Ehlers-Danlos Syndrome

- See: Marfan's Syndrome:

- Discussion:
    - autosomal dominant disorder characterized by hyperextensibility of "cigarette paper" skin joint hypermobility and dislocation, soft 
            tissue/bony fragility, and soft tissue calcification;
    - joint effusions and arthralgias are common, and children are often misdiagnosed with forms of arthritis;
    - all forms the disease may cause skin fragility, bruising, scarring, joint discomfort and osteoarthritis;
    - cutaneous manifestations are present in all forms;
            - skin is soft, velvety, and may be abundant over hands & feet;
            - it is hyperextensible, but returns immediately to normal configuration when released;
            - it may be extremely fragile, splitting after insignificant trauma;
            - wounds are characterized by minor bleeding and dehiscence;
            - sutures may pull out of surgical wounds;

    - subtypes:
            - some forms are produced by mutations in genes for type I or type III procollagens, but others are produced by defects
                    in enzymes (lysine hydroxylase deficiency) required for the assembly or processing of procollagens;
            - marked heterogeneity (differing mutations in the same genes causing the same disease w/ varying degrees of clinical
            - type II is most common and least disabling;
            - type IV:
                    - the vascular type, which causes severe and often fatal rupture of the bowel, other organs, and large arteries;
                    - is rare but very severe form of syndrome in that it frequently produces rupture of large arteries and hollow organs;
                    - defect of type III procollagen in Ehlers-Danlos syndrome;
                    - in the study by Pepin M, et al. (2000), the authors reviewed the clinical and family histories of and medical and surgical
                            complications in 220 index patients with biochemically confirmed Ehlers-Danlos syndrome type IV and 199 of their
                                     affected relatives;
                            - COL3A1 mutation was found in 135 index patients.
                            - 25 % of the index patients had a first complication by the age of 20 years;
                            - more than 80 percent had had at least one complication by the age of 40;
                            - calculated median survival of the entire cohort was 48 years;
                            - most deaths resulted from arterial rupture;
                            - bowel rupture, which often involved the sigmoid colon, accounted for about a quarter of complications but
                                     rarely led to death;
                            - complications of pregnancy led to death in 12 of the 81 women who became pregnant;
                    - Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

- Treatment:
    - consists of PT, orthotics, & arthrodesis;
    - soft tissue procedures fail 

Medical Progress: Heritable Diseases of Collagen.

Spontaneous gluteal artery rupture resulting in compartment syndrome and sciatic neuropathy. Report of a case in Ehlers-Danlos syndrome.

Spinal deformity in Ehlers-Danlos syndrome. Five patients treated by spinal fusion.

Ehlers-Danlos Syndrome

Original Text by Clifford R. Wheeless, III, MD.

Last updated by Data Trace Staff on Monday, May 7, 2018 4:49 am