Hypermobile Ehlers-Danlos Syndrome (hEDS) is the most common heritable connective tissue disorder.
There is no genetic test at this time (with the exception of about 5% of patients with TNXB); the diagnosis is still made clinically.
No specialist is required. See my What's In a Name? blog post for further diagnostic details regarding the 2017 updates to the hEDS Nosology.
"Ehlers– Danlos syndrome type III, Ehlers– Danlos syndrome hypermobility type, hypermobility syndrome, joint hypermobility syndrome, and benign joint hypermobility syndrome. All these names are considered outdated and their use should be discouraged."
Castori M, Tinkle B, Levy H, Grahame R, Malfait F, Hakim A. 2017. A framework for the classification of joint hypermobility and related conditions. Am J Med Genet Part C Semin Med Genet 9999C:1–10.
Differential: hEDS is the most common heritable connective tissue disorder, but if there is reason to suspect another disorder, those should be ruled out by a geneticist.
Some with Ehlers-Danlos have skeletal features of Marfan, another heritable connective tissue disorder, known as Marfan (or Marfanoid) habitus, which can include some or all of features such as (but not limited to):
- long fingers and toes (arachnodactyly, "spider fingers")
- abnormally long and slim limbs (dolichostenomelia)
- abnormally long wing span, arms are longer than total body height
- disproportionate upper body:lower body sitting ratio
Disorders presenting diagnostic challenge and significant overlap include:
Pyeritz RE. 2012. Evaluation of the adolescent or adult with some features of Marfan syndrome. American College of Medical Genetics, Genetics in Medicine, for the Professional Practice and Guidelines Committee, ACMG, Vol 14, No 1, 171-177. DOI: 10.1038/gim.2011.48.
- Hypermobile Ehlers-Danlos Syndrome (hEDS)
- Marfan Syndrome (MFS)
- Familial thoracic aortic aneurysm and dissection
- Loeys-Dietz Syndrome (LDS) and other disorders of TGFβ Receptors
- Congenital contractural arachnodactyly (CCA)
- Familial Arterial Tortuosity Syndrome
- Familial Mitral Valve Prolapse (MVP)
- Familial Ectopia Lentis
- Bicuspid Aortic Valve Sequence
- Familial Tall Stature
- Familial Pectus Excavatum
- Familial Scoliosis
- Stickler Syndrome
Overviews of Ehlers-Danlos Syndrome (including all types). Articles may contain references to out-of-date diagnostics.
- Shirley ED, DeMaio M, Bodurtha J. 2012. Ehlers-Danlos Syndrome in Orthopaedics: Etiology, diagnosis, and treatment. Sports Health, Vol 4, No 5, 394-403. DOI: 10.1177/1941738112452385.
Veritas Genetics: Whole Genome Sequencing (Veritas currently does not read results for any type of EDS except Vascular)
- Stivers T, Timmermans S. 2016. Negotiating the diagnostic uncertainty of genomic test results. Social Psychology Quarterly, Vol 79, Issue 3, 199-221. DOI: 10.1177/0190272516658770.
- Gratten J, Visscher PM. 2016. Genetic pleiotropy in complex traits and diseases: implications for genomic medicine. Genome Medicine, 8(78). DOI: 10.1186/s13073-016-0332-x.
The following articles are considered out-of-date and are no longer applicable to diagnostics. If any doctor uses these mechanisms for diagnosing, they are incorrect to do so.
- Tinkle BT, Bird HA, Grahame R, Lavallee M, Levy HP, Sillence D. 2009. The lack of clinical distinction between the hypermobility type of Ehlers–Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). American Journal of Medical Genetics Part A 9999:1-3.
- Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup R. 1997. Ehlers-Danlos Syndromes: Revised Nosology, Villefranche. American Journal of Medical Genetics, 77:31-37.
- chronic illness
- drug reaction
- immune reaction
- mast cell
- mental illness
- pelvic floor dysfunction
- quality of life
- spoon theory
- Stevens-Johnson Syndrome