Commonest group of disorders in the family of genetically determined heritable disorders of connective tissues. There are 6 types, of which the hypermobility type (III) is the most common.
Many affected people do not develop symptoms, or they develop only minor symptoms during their lifetime. Most hypermobile people are not aware of the fact and assume that everyone is as flexible as they are.
Apart from joint hypermobility, skin manifestations provide an important clue and include soft, silky skin texture, semi-transparent dermis, and hyperelasticity. Furthermore, patients commonly demonstrate easy bruising, scarring, and poor wound healing.
In addition to musculoskeletal and skin manifestations, cardiovascular and GI features, autonomic dysfunction, and features of chronic pain syndrome and marfanoid habitus are often present.
Diagnosis is clinical. There is no genetic test that can confirm or refute the diagnosis of the hypermobility type. However, collagen gene testing for the classic and vascular types is available.
Recommendations are based on expert opinion. Therapy is tailored to individual need. Multidisciplinary input may be necessary.
Many patients live healthy, unaffected lives. The vascular type is associated with a shortened lifespan due to susceptibility to arterial or visceral rupture.
Ehlers-Danlos syndrome (EDS) is the commonest group of disorders in the family of genetically determined heritable disorders of connective tissues. Caused by mutations affecting genes encoding for or modifying collagen, fibrillin, and/or other matrix proteins (e.g., tenascin), these disorders have similar phenotypes with varying degrees of expression that may include joint hypermobility, skin hyperelasticity, easy bruising, atrophic scars, and marfanoid habitus. There are numerous types of EDS, of which EDS III, or hypermobility type, is the most common.  Many clinicians consider it synonymous with benign joint hypermobility syndrome, sharing debilitating, yet often overlooked, associations with autonomic dysfunction, chronic pain, anxiety/phobic states, GI dysmotility, and chronic fatigue (much in the same way as with cases of fibromyalgia).  EDS IV, or vascular type, is associated with blood vessel rupture and visceral perforation, and may have severe life-threatening consequences.
Director, Adult Genetics
Department of Molecular & Human Genetics
Baylor College of Medicine
Chief, Section of Genetic Medicine
Michael E. Debakey Veterans Affairs Medical Center
SD declares that she has no competing interests.
Dr Shweta Dhar would like to gratefully acknowledge Dr Rodney Grahame and Dr Alan Hakim, the previous contributors to this monograph. RG and AH are authors of several references cited in this monograph.
Division of General Internal Medicine
Department of Medicine
McKusick-Nathans Institute of Genetic Medicine
Johns Hopkins University
HPL is an author of a number of references cited in this monograph.
Fund for Scientific Research
Flanders Centre for Medical Genetics
Ghent University Hospital
BC declares that he has no competing interests.
Professor of Pharmacological Rheumatology
University of Leeds
Chapel Allerton Hospital
HB declares that he has no competing interests.
Use of this content is subject to our disclaimer