Do you have Ehlers-Danlos Syndrome? Based on real cases at SSMI

Ehlers-Danlos Syndrome is a term used to describe a group of genetic disorders related to the synthesis and processing of the different types of collagen. There are 6 major types: classic, hypermobile, vascular, kyphoscoliosis, arthrochalasia, and dermatosparaxis. The vascular type is the most serious because patients have a higher chance of rupturing their aorta or viscera. Common findings in EDS are joint pain or instability, joint dislocation, tissue fragility (translucent skin, poor wound healing, easy bruising, and unusual scar), pes planus (flat feet), hyperelastic thin skin, and mitral valve prolapse.

The diagnosis of EDS is based on clinical presentation, family history, and genetic testing. Along with major and minor criterias for identification, genetic testing exists to diagnose the specific type of EDS. Of the 6 types, classic and hypermobile are the most common.

To diagnosis the classical type, a patient must fulfill the major criteria of skin hyperextensibility and widened atrophic papyraceous, or cigarette paper-like scars with poor wound healing, joint hypermobility and joint hypermobility, in addition to 3 or more minor criteria: soft doughy skin, easy bruising, fragile skin, molluscoid pseudotumors, subcutaneous spheroids, complications of joint hypermobility, epicanthal folds, hernias, and a positive family history. The diagnosis can also be confirmed by DNA sequencing of COL5A1 and COL5A2.

In the hypermobile type a diagnosis is made clinically based on 2017 international diagnostic criteria for hypermobile EDS in which 3 criteria are all present:

  1. Generalized joint hypermobility
  2. 2 or more of from below: 
  • Five or more of the following: soft velvety skin; mild skin hyperextensibility; striae (without weight gain or loss); bilateral piezogenic heel papules; multiple abdominal hernias; atrophic scarring; prolapse of pelvic floor, rectum or uterus; dental crowding and high palate; arachnodactyly (positive wrist and/or thumb sign); arm-span-to-height ratio >1.05; mitral valve prolapse or aortic root dilatation
  • Positive family history in first-degree relatives diagnosed with these criteria
  • Daily musculoskeletal pain in two or more extremities for at least three months or chronic pain for three months or more, recurrent joint dislocations, or atraumatic joint instability

       3. No evidence of skin fragility or other connective tissue disorders.

            Patients with EDS require special considerations from professionals that participate in their healthcare. An example would be patients with EDS undergoing  surgery may have vascular, dermatologic, and infectious complications. If a patient is not diagnosed, serious complications may ensue. EDS may present in many ways and can affect multiple systems in the body, so it is crucial to get diagnosed to prevent complications and injuries. If you are concerned that you may be experiencing some of the listed signs and symptoms please contact Dr. Carfagno at the Scottsdale Sports Medicine Institute for a consultation.

Citations

Beighton P, De Paepe A, Steinmann B, et al. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998; 77:31.

De Paepe A, Malfait F. The Ehlers-Danlos syndrome, a disorder with many faces. Clin Genet 2012; 82:1.

Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175:8.

Steinmann B, Royce PM, Superti-Furga A. The Ehlers-Danlos syndrome. In: Connective Tissue and its Heritable Disorders: Molecular, Genetic and Medical Aspects, 2nd, Royce PM, Steinmann B (Eds), Wiley Liss, New York 2002. P.431.

Colombi M, Dordoni C, Chiarelli N, Ritelli M. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. Am J Med Genet C Semin Med Genet 2015; 169C:6.