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Ehlers-Danlos Syndrome: A Multidisciplinary Approach
Generalized hypermobility has been known since ancient times, and a clinical description of Ehlers-Danlos syndrome (EDS) is said to have first been recorded by Hippocrates in 400 BC. Hypermobility syndromes occur frequently, but the wide spectrum of possible symptoms, coupled with a relative lack of awareness and recognition, are the reason that they are frequently not recognized, or remain undiagnosed. This book is an international, multidisciplinary guide to hypermobility syndromes, and EDS in particular. It aims to create better awareness of hypermobility syndromes among health professionals, including medical specialists, and to be a guide to the management of such syndromes for patients and practitioners. It is intended for use in daily clinical practice rather than as a reference book for research or the latest developments, and has been written to be understandable for any healthcare worker or educated patient without compromise to the scientific content. The book is organized as chapters on classifications and genetics are followed by chapters on individual types, organ (system) manifestations and complications, and finally ethics and therapeutic strategies, with an appendix on surgery and the precautions which should attend it. A special effort has been made to take account of the perspective of the patient; two of the editors have EDS. The book will be of interest to patients with hypermobility syndromes and their families, as well as to all those healthcare practitioners who may encounter such syndromes in the course of their work.
357 pages, Unknown Binding
Published April 1, 2020
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September 5, 2024
This book is open source and available here for free:
https://ebooks.iospress.nl/book/ehler...
Good for various clinicians as a starting reference for dealing with EDS patients, but of limited value to patients who will typically know most of the information relevant to them already.
Below are most of the highlights I made while reading, due either to something being interesting, good to know (primarily from a hEDS perspective), or relevant as a reference in discussions (there are a few points of contention in the EDS community regarding diagnostic criteria of hEDS, poor recognition of HSD, etc.)
in the March 2017 issue of the American Journal of Medical Genetics Part C ... the most striking changes [included]:
- Deciding - not unexpectedly though - that EDS hypermobility type and benign joint hypermobility syndrome are in fact part of one and the same clinical spectrum ranging from apparently symptomatic generalized joint hypermobility to the most disabled individuals fitting the new diagnostic criteria.
- These new criteria are more strict than the Villefranche criteria and the Brighton criteria for BJHS in order to define a homogeneous phenotype for management and scientific purposes. Its name is hypermobile EDS.
-----
(Regarding the criteria for assessing skin hyperextensibility), The upper limit of normal for the forearm and dorsum of the hand is about 1.5 cm.
-----
In mild cases of the classical type (partial expression), differentiation from the hypermobile type might be difficult, if not impossible
-----
(Regarding) vascular EDS ... recently, Frank et al. showed that the type of COL3A1 mutation is associated with the phenotype and severity: patients with glycine substitutions and splice-site and in-frame insertions-deletions have a more severe phenotype, including digestive events, compared to e.g. mutations leading to non-glycine missense variants or haplo-insufficiency, due to a null allele. The latter may delay onset of complications by almost 2 decades.
-----
Recently, also cardiovascular dysautonomia (mainly postural tachycardia syndrome = POTS), functional gastro-intestinal manifestations, sleep disturbance, fatigue, depression and anxiety disorders have been attributed to hypermobile EDS
-----
(Regarding diagnosis of EDS)
History taking ... specific questions should elucidate the presence or absence of:
- Hypermobility and/or (sub)luxations.
- Painful joints
- Temporomandibular joint problems
- Problems with bursae/tendons
- (Spontaneous) fractures
- Skin fragility and abnormal wound healing with wide atrophic scars
- Surgery ... complications?
- Easy bruising and/or abnormal menstrual bleeding
- Abnormal exercise tolerance and/or fatigue
- Pneumothorax (lung collapse)
- Cardiac problems? Cardiovascular autonomic dysfunction?
- Genito-urinary tract problems, e.g. uterine prolapse, voiding dysfunction
- Gastro-intestinal tract problems, e.g. constipation, diverticula, rectal prolapse
- For female patients with children: pregnancy and delivery problems
- Rupture of internal organs (arteries, lungs, intestines, spleen uterus)
- Psychiatric problems, like anxiety, depression, ADHD
- Neurological problems ... headache/migraine
- Eye problems, e.g. refractive errors, abnormal vision
- Hearing
- Growth
- Motor and cognitive development
- Miscellaneous: Gingivitis, varicose veins, abnormal effect of local anaesthesia
The physical examination is focused on signs relevant for connective tissue disorders:
- Build and biometry: height, weight, span and others when indicated. Marfanoid?
- Facial features: among others, Gorlin sign? High palate? Absence of subcutaneous fat? Prominent eyes? Thin, "pinched" nose? Normal earlobes? Epicanthic folds? Low-set ears? Midfacial hypoplasia? Micrognathia? Down-slanting palpebral fissures? Gingival recession?
- Teeth: dental crowding? Discoloured? Dysplastic? Periodontitis?
- Thorax: deformity?
- Back: kypho(scoliosis?
- Extremities: Beighton score,; Bulbena score; arachnodactyly? Brachydactyly? Clinodactyly? Contractures? Flat feet? Joints? Muscle strength? Edema? Hallux valgus?
- Skin: extensibility? Texture? Thickness and venous pattern? Striae distensae? Varicose veins? Piezogenic papules? Molluscoid pseudotumors? Spheroids? Scars? Herniae?
Eyes: Blue sclerae? Microcornea? Strabismus? Clouded cornea? Glaucoma? Scleral/ocular fragility? Keratoconus?
- Neurological examination: muscle weakness? Reduction in fibration sense? Reduction of rendon reflexes?
-----
Areas of uncertainties/research agenda:
- An international consensus on methods for measuring joint hypermobility and on more accurate tools for classifying patients with hypermobile EDS is needed
- Controlled studies are needed to establish whether hypermobile EDS is a multisystem disorder, including among others cardiovascular dysautonomia, functional gastro-intestinal manifestations, sleep disturbance, fatigue, depression and anxiety disorders. If that is the case, diagnostic criteria need to be adjusted.
- Education of the general public and health care providers is needed to increase awareness of EDS with early diagnosis and proper management as a consequence. Particularly, it is important to understand that hypermobile EDS and benign joint hypermobility syndrome are one and the same disorder.
-----
Tenascin-X has also been implicated in some EDS types (classic-like and hypermobile EDS).
...
Carriership of mutations in tenascin-X have been identified in a small subset (~5%) of patietns with hypermobile EDS.
-----
Also mutations were identified in non-collagenous proteins, showing that EDS can also be caused by defects in proteins other than collagen.
-----
Also sunlight causes collagen-fibres to decrease and degenerate. This effect is magnified in classical and other EDS types, in which the underlying collagen is already abnormal. Sun protection is therefore particularly important in EDS patients.
-----
(Regarding joint hypermobility) A scoring system ideally accounting for all variables has not yet been developed and scoring with available tools is influenced by the practitioner's experience.
-----
There seems to be a primary involvement of muscle in hypermobile EDS: muscle weakness has been found in the absence of reduced muscle mass, which would have been present if muscle weakness was the result of reduced physical activity only.
-----
Given the overlap of the former EDS hypermobility type and BJHS, many clinicians considered these two disorders one and the same, sometimes referred to with the acronym (B)JHS/EDSht. This approach has been demonstrated realistic in familial cases with a convincing Mendelian pattern of inheritance, although doubts still remain for sporadic/simplex cases.
-----
The Beighton score only proves the existence of generalised hypermobility. However, the diagnosis of EDS remains exclusive to those patients with hypermobility that is accompanied by abnormalities of the skin.
-----
Many patients with hypermobile EDS have relatively few symptoms and do not require any treatment at all
-----
EDS patients must continue to walk as much as possible as this (more than any other activity) helps to maintain good physical condition.
-----
De Wandele et al. by carrying out a questionnaire study on 78 HEDS/HSDS adults, found three phenotypic clusters by an agglomerative hierarchical cluster analysis. GI complaints occurred more commonly in cluster 2, which showed the highest rate of fatigue, sleeping disorders, orthostatic intolerance, thermoregulatory problems, inflammatory signs and cardiovascular symptoms, as well as the largest functional impairment and the most severe pain. In a further work, the group compared the rate and impact on quality of life of selected "autonomic" complaints in hEDS/HSDs with classical and vascular EDS, fibromyalgia and healthy controls. Among the EDS groups, hEDS/HSDs showed the highest rate of autonomic features, and the burder was comparable with fibromyalgia.
-----
A more recent study found swallowing difficulties in 39% of 411 EDS patients affected by the types I and II (classical EDS), III (hEDS/HSDs), IV (vascular EDS), and VI (kyphoscoliotic EDS).
-----
A defect of the extracellular matrix in the lamina propria and secondary alterations of luminal microbiota may affect permeability of gut mucosa, a mechanism which may explain, in part, the associations with celiac disease, Crohn disease, and eosinophilic esophagitis.
-----
The tight relationship between GI involvement and additional dysautonomic complaints strongly suggests an influence of autonomic disturbance in the onset and/or manifestations of various functional GI complaints.
-----
Many invasive procedures are considered relatively safe in these patients (classical and hEDS/HSDs), with the exception of colonoscopy, which should be considered potentially dangerous in all EDS patients.
-----
Drugs that interfere with the haemostatic process should be avoided by patients with any type of EDS. Drugs that interfere with platelet function include aspirin, dipyridamole, clopidogrel, and non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen and diclofenac.
Paracetamol and COX-1 sparing NSAIDs do not influence haemostasis and can be considered safe, albeit that COX-1 sparing NSAIDs increase the risk of cardio-vascular disease.
-----
Atzinger et al, did a ... study in 252 patients and similarly concluded that, although aortic root size is increased and mitral valve prolapse is more frequent in patients with classical and hypermobile EDS, they tend to be of little clinical consequence.
-----
Now, the existence of a continuous spectrum ranging from isolated, non-syndromic generalized joint hypermobility to hEDS is recognized. Within the spectrum, the term hEDS is now restricted to the most systemic/Mendelian phenotypes, while the term hypermobility spectrum disorders (HSDs) is introduced to fill the gap between the two ends.
-----
They also found POTS as the most prevalent autonomic profile in hEDS/HSDs and identified sympathetic neurogenic dysfunction as the most likely explanation for dysautonomia in this condition.
-----
Patients with joint hypermobility syndrome present with greater prevalence of panic disorder and agoraphobia.
-----
Although EDS-HT/BJHS is traditionally viewed as a disease with primary locomotor complaints, in some patients multi-systemic symptoms dominate the symptom profile.
https://ebooks.iospress.nl/book/ehler...
Good for various clinicians as a starting reference for dealing with EDS patients, but of limited value to patients who will typically know most of the information relevant to them already.
Below are most of the highlights I made while reading, due either to something being interesting, good to know (primarily from a hEDS perspective), or relevant as a reference in discussions (there are a few points of contention in the EDS community regarding diagnostic criteria of hEDS, poor recognition of HSD, etc.)
in the March 2017 issue of the American Journal of Medical Genetics Part C ... the most striking changes [included]:
- Deciding - not unexpectedly though - that EDS hypermobility type and benign joint hypermobility syndrome are in fact part of one and the same clinical spectrum ranging from apparently symptomatic generalized joint hypermobility to the most disabled individuals fitting the new diagnostic criteria.
- These new criteria are more strict than the Villefranche criteria and the Brighton criteria for BJHS in order to define a homogeneous phenotype for management and scientific purposes. Its name is hypermobile EDS.
-----
(Regarding the criteria for assessing skin hyperextensibility), The upper limit of normal for the forearm and dorsum of the hand is about 1.5 cm.
-----
In mild cases of the classical type (partial expression), differentiation from the hypermobile type might be difficult, if not impossible
-----
(Regarding) vascular EDS ... recently, Frank et al. showed that the type of COL3A1 mutation is associated with the phenotype and severity: patients with glycine substitutions and splice-site and in-frame insertions-deletions have a more severe phenotype, including digestive events, compared to e.g. mutations leading to non-glycine missense variants or haplo-insufficiency, due to a null allele. The latter may delay onset of complications by almost 2 decades.
-----
Recently, also cardiovascular dysautonomia (mainly postural tachycardia syndrome = POTS), functional gastro-intestinal manifestations, sleep disturbance, fatigue, depression and anxiety disorders have been attributed to hypermobile EDS
-----
(Regarding diagnosis of EDS)
History taking ... specific questions should elucidate the presence or absence of:
- Hypermobility and/or (sub)luxations.
- Painful joints
- Temporomandibular joint problems
- Problems with bursae/tendons
- (Spontaneous) fractures
- Skin fragility and abnormal wound healing with wide atrophic scars
- Surgery ... complications?
- Easy bruising and/or abnormal menstrual bleeding
- Abnormal exercise tolerance and/or fatigue
- Pneumothorax (lung collapse)
- Cardiac problems? Cardiovascular autonomic dysfunction?
- Genito-urinary tract problems, e.g. uterine prolapse, voiding dysfunction
- Gastro-intestinal tract problems, e.g. constipation, diverticula, rectal prolapse
- For female patients with children: pregnancy and delivery problems
- Rupture of internal organs (arteries, lungs, intestines, spleen uterus)
- Psychiatric problems, like anxiety, depression, ADHD
- Neurological problems ... headache/migraine
- Eye problems, e.g. refractive errors, abnormal vision
- Hearing
- Growth
- Motor and cognitive development
- Miscellaneous: Gingivitis, varicose veins, abnormal effect of local anaesthesia
The physical examination is focused on signs relevant for connective tissue disorders:
- Build and biometry: height, weight, span and others when indicated. Marfanoid?
- Facial features: among others, Gorlin sign? High palate? Absence of subcutaneous fat? Prominent eyes? Thin, "pinched" nose? Normal earlobes? Epicanthic folds? Low-set ears? Midfacial hypoplasia? Micrognathia? Down-slanting palpebral fissures? Gingival recession?
- Teeth: dental crowding? Discoloured? Dysplastic? Periodontitis?
- Thorax: deformity?
- Back: kypho(scoliosis?
- Extremities: Beighton score,; Bulbena score; arachnodactyly? Brachydactyly? Clinodactyly? Contractures? Flat feet? Joints? Muscle strength? Edema? Hallux valgus?
- Skin: extensibility? Texture? Thickness and venous pattern? Striae distensae? Varicose veins? Piezogenic papules? Molluscoid pseudotumors? Spheroids? Scars? Herniae?
Eyes: Blue sclerae? Microcornea? Strabismus? Clouded cornea? Glaucoma? Scleral/ocular fragility? Keratoconus?
- Neurological examination: muscle weakness? Reduction in fibration sense? Reduction of rendon reflexes?
-----
Areas of uncertainties/research agenda:
- An international consensus on methods for measuring joint hypermobility and on more accurate tools for classifying patients with hypermobile EDS is needed
- Controlled studies are needed to establish whether hypermobile EDS is a multisystem disorder, including among others cardiovascular dysautonomia, functional gastro-intestinal manifestations, sleep disturbance, fatigue, depression and anxiety disorders. If that is the case, diagnostic criteria need to be adjusted.
- Education of the general public and health care providers is needed to increase awareness of EDS with early diagnosis and proper management as a consequence. Particularly, it is important to understand that hypermobile EDS and benign joint hypermobility syndrome are one and the same disorder.
-----
Tenascin-X has also been implicated in some EDS types (classic-like and hypermobile EDS).
...
Carriership of mutations in tenascin-X have been identified in a small subset (~5%) of patietns with hypermobile EDS.
-----
Also mutations were identified in non-collagenous proteins, showing that EDS can also be caused by defects in proteins other than collagen.
-----
Also sunlight causes collagen-fibres to decrease and degenerate. This effect is magnified in classical and other EDS types, in which the underlying collagen is already abnormal. Sun protection is therefore particularly important in EDS patients.
-----
(Regarding joint hypermobility) A scoring system ideally accounting for all variables has not yet been developed and scoring with available tools is influenced by the practitioner's experience.
-----
There seems to be a primary involvement of muscle in hypermobile EDS: muscle weakness has been found in the absence of reduced muscle mass, which would have been present if muscle weakness was the result of reduced physical activity only.
-----
Given the overlap of the former EDS hypermobility type and BJHS, many clinicians considered these two disorders one and the same, sometimes referred to with the acronym (B)JHS/EDSht. This approach has been demonstrated realistic in familial cases with a convincing Mendelian pattern of inheritance, although doubts still remain for sporadic/simplex cases.
-----
The Beighton score only proves the existence of generalised hypermobility. However, the diagnosis of EDS remains exclusive to those patients with hypermobility that is accompanied by abnormalities of the skin.
-----
Many patients with hypermobile EDS have relatively few symptoms and do not require any treatment at all
-----
EDS patients must continue to walk as much as possible as this (more than any other activity) helps to maintain good physical condition.
-----
De Wandele et al. by carrying out a questionnaire study on 78 HEDS/HSDS adults, found three phenotypic clusters by an agglomerative hierarchical cluster analysis. GI complaints occurred more commonly in cluster 2, which showed the highest rate of fatigue, sleeping disorders, orthostatic intolerance, thermoregulatory problems, inflammatory signs and cardiovascular symptoms, as well as the largest functional impairment and the most severe pain. In a further work, the group compared the rate and impact on quality of life of selected "autonomic" complaints in hEDS/HSDs with classical and vascular EDS, fibromyalgia and healthy controls. Among the EDS groups, hEDS/HSDs showed the highest rate of autonomic features, and the burder was comparable with fibromyalgia.
-----
A more recent study found swallowing difficulties in 39% of 411 EDS patients affected by the types I and II (classical EDS), III (hEDS/HSDs), IV (vascular EDS), and VI (kyphoscoliotic EDS).
-----
A defect of the extracellular matrix in the lamina propria and secondary alterations of luminal microbiota may affect permeability of gut mucosa, a mechanism which may explain, in part, the associations with celiac disease, Crohn disease, and eosinophilic esophagitis.
-----
The tight relationship between GI involvement and additional dysautonomic complaints strongly suggests an influence of autonomic disturbance in the onset and/or manifestations of various functional GI complaints.
-----
Many invasive procedures are considered relatively safe in these patients (classical and hEDS/HSDs), with the exception of colonoscopy, which should be considered potentially dangerous in all EDS patients.
-----
Drugs that interfere with the haemostatic process should be avoided by patients with any type of EDS. Drugs that interfere with platelet function include aspirin, dipyridamole, clopidogrel, and non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen and diclofenac.
Paracetamol and COX-1 sparing NSAIDs do not influence haemostasis and can be considered safe, albeit that COX-1 sparing NSAIDs increase the risk of cardio-vascular disease.
-----
Atzinger et al, did a ... study in 252 patients and similarly concluded that, although aortic root size is increased and mitral valve prolapse is more frequent in patients with classical and hypermobile EDS, they tend to be of little clinical consequence.
-----
Now, the existence of a continuous spectrum ranging from isolated, non-syndromic generalized joint hypermobility to hEDS is recognized. Within the spectrum, the term hEDS is now restricted to the most systemic/Mendelian phenotypes, while the term hypermobility spectrum disorders (HSDs) is introduced to fill the gap between the two ends.
-----
They also found POTS as the most prevalent autonomic profile in hEDS/HSDs and identified sympathetic neurogenic dysfunction as the most likely explanation for dysautonomia in this condition.
-----
Patients with joint hypermobility syndrome present with greater prevalence of panic disorder and agoraphobia.
-----
Although EDS-HT/BJHS is traditionally viewed as a disease with primary locomotor complaints, in some patients multi-systemic symptoms dominate the symptom profile.
June 3, 2023
This book is open source and available here for free:
https://ebooks.iospress.nl/book/ehler...
Good for various clinicians as a starting reference for dealing with EDS patients, but of limited value to patients who will typically know most of the information relevant to them already.
Below are most of the highlights I made while reading, due either to something being interesting, good to know (primarily from a hEDS perspective), or relevant as a reference in discussions (there are a few points of contention in the EDS community regarding diagnostic criteria of hEDS, poor recognition of HSD, etc.)
in the March 2017 issue of the American Journal of Medical Genetics Part C ... the most striking changes [included]:
- Deciding - not unexpectedly though - that EDS hypermobility type and benign joint hypermobility syndrome are in fact part of one and the same clinical spectrum ranging from apparently symptomatic generalized joint hypermobility to the most disabled individuals fitting the new diagnostic criteria.
- These new criteria are more strict than the Villefranche criteria and the Brighton criteria for BJHS in order to define a homogeneous phenotype for management and scientific purposes. Its name is hypermobile EDS.
-----
(Regarding the criteria for assessing skin hyperextensibility), The upper limit of normal for the forearm and dorsum of the hand is about 1.5 cm.
-----
In mild cases of the classical type (partial expression), differentiation from the hypermobile type might be difficult, if not impossible
-----
(Regarding) vascular EDS ... recently, Frank et al. showed that the type of COL3A1 mutation is associated with the phenotype and severity: patients with glycine substitutions and splice-site and in-frame insertions-deletions have a more severe phenotype, including digestive events, compared to e.g. mutations leading to non-glycine missense variants or haplo-insufficiency, due to a null allele. The latter may delay onset of complications by almost 2 decades.
-----
Recently, also cardiovascular dysautonomia (mainly postural tachycardia syndrome = POTS), functional gastro-intestinal manifestations, sleep disturbance, fatigue, depression and anxiety disorders have been attributed to hypermobile EDS
-----
(Regarding diagnosis of EDS)
History taking ... specific questions should elucidate the presence or absence of:
- Hypermobility and/or (sub)luxations.
- Painful joints
- Temporomandibular joint problems
- Problems with bursae/tendons
- (Spontaneous) fractures
- Skin fragility and abnormal wound healing with wide atrophic scars
- Surgery ... complications?
- Easy bruising and/or abnormal menstrual bleeding
- Abnormal exercise tolerance and/or fatigue
- Pneumothorax (lung collapse)
- Cardiac problems? Cardiovascular autonomic dysfunction?
- Genito-urinary tract problems, e.g. uterine prolapse, voiding dysfunction
- Gastro-intestinal tract problems, e.g. constipation, diverticula, rectal prolapse
- For female patients with children: pregnancy and delivery problems
- Rupture of internal organs (arteries, lungs, intestines, spleen uterus)
- Psychiatric problems, like anxiety, depression, ADHD
- Neurological problems ... headache/migraine
- Eye problems, e.g. refractive errors, abnormal vision
- Hearing
- Growth
- Motor and cognitive development
- Miscellaneous: Gingivitis, varicose veins, abnormal effect of local anaesthesia
The physical examination is focused on signs relevant for connective tissue disorders:
- Build and biometry: height, weight, span and others when indicated. Marfanoid?
- Facial features: among others, Gorlin sign? High palate? Absence of subcutaneous fat? Prominent eyes? Thin, "pinched" nose? Normal earlobes? Epicanthic folds? Low-set ears? Midfacial hypoplasia? Micrognathia? Down-slanting palpebral fissures? Gingival recession?
- Teeth: dental crowding? Discoloured? Dysplastic? Periodontitis?
- Thorax: deformity?
- Back: kypho(scoliosis?
- Extremities: Beighton score,; Bulbena score; arachnodactyly? Brachydactyly? Clinodactyly? Contractures? Flat feet? Joints? Muscle strength? Edema? Hallux valgus?
- Skin: extensibility? Texture? Thickness and venous pattern? Striae distensae? Varicose veins? Piezogenic papules? Molluscoid pseudotumors? Spheroids? Scars? Herniae?
Eyes: Blue sclerae? Microcornea? Strabismus? Clouded cornea? Glaucoma? Scleral/ocular fragility? Keratoconus?
- Neurological examination: muscle weakness? Reduction in fibration sense? Reduction of rendon reflexes?
-----
Areas of uncertainties/research agenda:
- An international consensus on methods for measuring joint hypermobility and on more accurate tools for classifying patients with hypermobile EDS is needed
- Controlled studies are needed to establish whether hypermobile EDS is a multisystem disorder, including among others cardiovascular dysautonomia, functional gastro-intestinal manifestations, sleep disturbance, fatigue, depression and anxiety disorders. If that is the case, diagnostic criteria need to be adjusted.
- Education of the general public and health care providers is needed to increase awareness of EDS with early diagnosis and proper management as a consequence. Particularly, it is important to understand that hypermobile EDS and benign joint hypermobility syndrome are one and the same disorder.
-----
Tenascin-X has also been implicated in some EDS types (classic-like and hypermobile EDS).
...
Carriership of mutations in tenascin-X have been identified in a small subset (~5%) of patietns with hypermobile EDS.
-----
Also mutations were identified in non-collagenous proteins, showing that EDS can also be caused by defects in proteins other than collagen.
-----
Also sunlight causes collagen-fibres to decrease and degenerate. This effect is magnified in classical and other EDS types, in which the underlying collagen is already abnormal. Sun protection is therefore particularly important in EDS patients.
-----
(Regarding joint hypermobility) A scoring system ideally accounting for all variables has not yet been developed and scoring with available tools is influenced by the practitioner's experience.
-----
There seems to be a primary involvement of muscle in hypermobile EDS: muscle weakness has been found in the absence of reduced muscle mass, which would have been present if muscle weakness was the result of reduced physical activity only.
-----
Given the overlap of the former EDS hypermobility type and BJHS, many clinicians considered these two disorders one and the same, sometimes referred to with the acronym (B)JHS/EDSht. This approach has been demonstrated realistic in familial cases with a convincing Mendelian pattern of inheritance, although doubts still remain for sporadic/simplex cases.
-----
The Beighton score only proves the existence of generalised hypermobility. However, the diagnosis of EDS remains exclusive to those patients with hypermobility that is accompanied by abnormalities of the skin.
-----
Many patients with hypermobile EDS have relatively few symptoms and do not require any treatment at all
-----
EDS patients must continue to walk as much as possible as this (more than any other activity) helps to maintain good physical condition.
-----
De Wandele et al. by carrying out a questionnaire study on 78 HEDS/HSDS adults, found three phenotypic clusters by an agglomerative hierarchical cluster analysis. GI complaints occurred more commonly in cluster 2, which showed the highest rate of fatigue, sleeping disorders, orthostatic intolerance, thermoregulatory problems, inflammatory signs and cardiovascular symptoms, as well as the largest functional impairment and the most severe pain. In a further work, the group compared the rate and impact on quality of life of selected "autonomic" complaints in hEDS/HSDs with classical and vascular EDS, fibromyalgia and healthy controls. Among the EDS groups, hEDS/HSDs showed the highest rate of autonomic features, and the burder was comparable with fibromyalgia.
-----
A more recent study found swallowing difficulties in 39% of 411 EDS patients affected by the types I and II (classical EDS), III (hEDS/HSDs), IV (vascular EDS), and VI (kyphoscoliotic EDS).
-----
A defect of the extracellular matrix in the lamina propria and secondary alterations of luminal microbiota may affect permeability of gut mucosa, a mechanism which may explain, in part, the associations with celiac disease, Crohn disease, and eosinophilic esophagitis.
-----
The tight relationship between GI involvement and additional dysautonomic complaints strongly suggests an influence of autonomic disturbance in the onset and/or manifestations of various functional GI complaints.
-----
Many invasive procedures are considered relatively safe in these patients (classical and hEDS/HSDs), with the exception of colonoscopy, which should be considered potentially dangerous in all EDS patients.
-----
Drugs that interfere with the haemostatic process should be avoided by patients with any type of EDS. Drugs that interfere with platelet function include aspirin, dipyridamole, clopidogrel, and non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen and diclofenac.
Paracetamol and COX-1 sparing NSAIDs do not influence haemostasis and can be considered safe, albeit that COX-1 sparing NSAIDs increase the risk of cardio-vascular disease.
-----
Atzinger et al, did a ... study in 252 patients and similarly concluded that, although aortic root size is increased and mitral valve prolapse is more frequent in patients with classical and hypermobile EDS, they tend to be of little clinical consequence.
-----
Now, the existence of a continuous spectrum ranging from isolated, non-syndromic generalized joint hypermobility to hEDS is recognized. Within the spectrum, the term hEDS is now restricted to the most systemic/Mendelian phenotypes, while the term hypermobility spectrum disorders (HSDs) is introduced to fill the gap between the two ends.
-----
They also found POTS as the most prevalent autonomic profile in hEDS/HSDs and identified sympathetic neurogenic dysfunction as the most likely explanation for dysautonomia in this condition.
-----
Patients with joint hypermobility syndrome present with greater prevalence of panic disorder and agoraphobia.
-----
Although EDS-HT/BJHS is traditionally viewed as a disease with primary locomotor complaints, in some patients multi-systemic symptoms dominate the symptom profile.
https://ebooks.iospress.nl/book/ehler...
Good for various clinicians as a starting reference for dealing with EDS patients, but of limited value to patients who will typically know most of the information relevant to them already.
Below are most of the highlights I made while reading, due either to something being interesting, good to know (primarily from a hEDS perspective), or relevant as a reference in discussions (there are a few points of contention in the EDS community regarding diagnostic criteria of hEDS, poor recognition of HSD, etc.)
in the March 2017 issue of the American Journal of Medical Genetics Part C ... the most striking changes [included]:
- Deciding - not unexpectedly though - that EDS hypermobility type and benign joint hypermobility syndrome are in fact part of one and the same clinical spectrum ranging from apparently symptomatic generalized joint hypermobility to the most disabled individuals fitting the new diagnostic criteria.
- These new criteria are more strict than the Villefranche criteria and the Brighton criteria for BJHS in order to define a homogeneous phenotype for management and scientific purposes. Its name is hypermobile EDS.
-----
(Regarding the criteria for assessing skin hyperextensibility), The upper limit of normal for the forearm and dorsum of the hand is about 1.5 cm.
-----
In mild cases of the classical type (partial expression), differentiation from the hypermobile type might be difficult, if not impossible
-----
(Regarding) vascular EDS ... recently, Frank et al. showed that the type of COL3A1 mutation is associated with the phenotype and severity: patients with glycine substitutions and splice-site and in-frame insertions-deletions have a more severe phenotype, including digestive events, compared to e.g. mutations leading to non-glycine missense variants or haplo-insufficiency, due to a null allele. The latter may delay onset of complications by almost 2 decades.
-----
Recently, also cardiovascular dysautonomia (mainly postural tachycardia syndrome = POTS), functional gastro-intestinal manifestations, sleep disturbance, fatigue, depression and anxiety disorders have been attributed to hypermobile EDS
-----
(Regarding diagnosis of EDS)
History taking ... specific questions should elucidate the presence or absence of:
- Hypermobility and/or (sub)luxations.
- Painful joints
- Temporomandibular joint problems
- Problems with bursae/tendons
- (Spontaneous) fractures
- Skin fragility and abnormal wound healing with wide atrophic scars
- Surgery ... complications?
- Easy bruising and/or abnormal menstrual bleeding
- Abnormal exercise tolerance and/or fatigue
- Pneumothorax (lung collapse)
- Cardiac problems? Cardiovascular autonomic dysfunction?
- Genito-urinary tract problems, e.g. uterine prolapse, voiding dysfunction
- Gastro-intestinal tract problems, e.g. constipation, diverticula, rectal prolapse
- For female patients with children: pregnancy and delivery problems
- Rupture of internal organs (arteries, lungs, intestines, spleen uterus)
- Psychiatric problems, like anxiety, depression, ADHD
- Neurological problems ... headache/migraine
- Eye problems, e.g. refractive errors, abnormal vision
- Hearing
- Growth
- Motor and cognitive development
- Miscellaneous: Gingivitis, varicose veins, abnormal effect of local anaesthesia
The physical examination is focused on signs relevant for connective tissue disorders:
- Build and biometry: height, weight, span and others when indicated. Marfanoid?
- Facial features: among others, Gorlin sign? High palate? Absence of subcutaneous fat? Prominent eyes? Thin, "pinched" nose? Normal earlobes? Epicanthic folds? Low-set ears? Midfacial hypoplasia? Micrognathia? Down-slanting palpebral fissures? Gingival recession?
- Teeth: dental crowding? Discoloured? Dysplastic? Periodontitis?
- Thorax: deformity?
- Back: kypho(scoliosis?
- Extremities: Beighton score,; Bulbena score; arachnodactyly? Brachydactyly? Clinodactyly? Contractures? Flat feet? Joints? Muscle strength? Edema? Hallux valgus?
- Skin: extensibility? Texture? Thickness and venous pattern? Striae distensae? Varicose veins? Piezogenic papules? Molluscoid pseudotumors? Spheroids? Scars? Herniae?
Eyes: Blue sclerae? Microcornea? Strabismus? Clouded cornea? Glaucoma? Scleral/ocular fragility? Keratoconus?
- Neurological examination: muscle weakness? Reduction in fibration sense? Reduction of rendon reflexes?
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Areas of uncertainties/research agenda:
- An international consensus on methods for measuring joint hypermobility and on more accurate tools for classifying patients with hypermobile EDS is needed
- Controlled studies are needed to establish whether hypermobile EDS is a multisystem disorder, including among others cardiovascular dysautonomia, functional gastro-intestinal manifestations, sleep disturbance, fatigue, depression and anxiety disorders. If that is the case, diagnostic criteria need to be adjusted.
- Education of the general public and health care providers is needed to increase awareness of EDS with early diagnosis and proper management as a consequence. Particularly, it is important to understand that hypermobile EDS and benign joint hypermobility syndrome are one and the same disorder.
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Tenascin-X has also been implicated in some EDS types (classic-like and hypermobile EDS).
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Carriership of mutations in tenascin-X have been identified in a small subset (~5%) of patietns with hypermobile EDS.
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Also mutations were identified in non-collagenous proteins, showing that EDS can also be caused by defects in proteins other than collagen.
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Also sunlight causes collagen-fibres to decrease and degenerate. This effect is magnified in classical and other EDS types, in which the underlying collagen is already abnormal. Sun protection is therefore particularly important in EDS patients.
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(Regarding joint hypermobility) A scoring system ideally accounting for all variables has not yet been developed and scoring with available tools is influenced by the practitioner's experience.
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There seems to be a primary involvement of muscle in hypermobile EDS: muscle weakness has been found in the absence of reduced muscle mass, which would have been present if muscle weakness was the result of reduced physical activity only.
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Given the overlap of the former EDS hypermobility type and BJHS, many clinicians considered these two disorders one and the same, sometimes referred to with the acronym (B)JHS/EDSht. This approach has been demonstrated realistic in familial cases with a convincing Mendelian pattern of inheritance, although doubts still remain for sporadic/simplex cases.
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The Beighton score only proves the existence of generalised hypermobility. However, the diagnosis of EDS remains exclusive to those patients with hypermobility that is accompanied by abnormalities of the skin.
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Many patients with hypermobile EDS have relatively few symptoms and do not require any treatment at all
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EDS patients must continue to walk as much as possible as this (more than any other activity) helps to maintain good physical condition.
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De Wandele et al. by carrying out a questionnaire study on 78 HEDS/HSDS adults, found three phenotypic clusters by an agglomerative hierarchical cluster analysis. GI complaints occurred more commonly in cluster 2, which showed the highest rate of fatigue, sleeping disorders, orthostatic intolerance, thermoregulatory problems, inflammatory signs and cardiovascular symptoms, as well as the largest functional impairment and the most severe pain. In a further work, the group compared the rate and impact on quality of life of selected "autonomic" complaints in hEDS/HSDs with classical and vascular EDS, fibromyalgia and healthy controls. Among the EDS groups, hEDS/HSDs showed the highest rate of autonomic features, and the burder was comparable with fibromyalgia.
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A more recent study found swallowing difficulties in 39% of 411 EDS patients affected by the types I and II (classical EDS), III (hEDS/HSDs), IV (vascular EDS), and VI (kyphoscoliotic EDS).
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A defect of the extracellular matrix in the lamina propria and secondary alterations of luminal microbiota may affect permeability of gut mucosa, a mechanism which may explain, in part, the associations with celiac disease, Crohn disease, and eosinophilic esophagitis.
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The tight relationship between GI involvement and additional dysautonomic complaints strongly suggests an influence of autonomic disturbance in the onset and/or manifestations of various functional GI complaints.
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Many invasive procedures are considered relatively safe in these patients (classical and hEDS/HSDs), with the exception of colonoscopy, which should be considered potentially dangerous in all EDS patients.
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Drugs that interfere with the haemostatic process should be avoided by patients with any type of EDS. Drugs that interfere with platelet function include aspirin, dipyridamole, clopidogrel, and non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen and diclofenac.
Paracetamol and COX-1 sparing NSAIDs do not influence haemostasis and can be considered safe, albeit that COX-1 sparing NSAIDs increase the risk of cardio-vascular disease.
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Atzinger et al, did a ... study in 252 patients and similarly concluded that, although aortic root size is increased and mitral valve prolapse is more frequent in patients with classical and hypermobile EDS, they tend to be of little clinical consequence.
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Now, the existence of a continuous spectrum ranging from isolated, non-syndromic generalized joint hypermobility to hEDS is recognized. Within the spectrum, the term hEDS is now restricted to the most systemic/Mendelian phenotypes, while the term hypermobility spectrum disorders (HSDs) is introduced to fill the gap between the two ends.
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They also found POTS as the most prevalent autonomic profile in hEDS/HSDs and identified sympathetic neurogenic dysfunction as the most likely explanation for dysautonomia in this condition.
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Patients with joint hypermobility syndrome present with greater prevalence of panic disorder and agoraphobia.
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Although EDS-HT/BJHS is traditionally viewed as a disease with primary locomotor complaints, in some patients multi-systemic symptoms dominate the symptom profile.
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