Ehlers-Danlos syndrome is caused by a variety of gene mutations. These mutations lead to faulty collagen synthesis by altering the structure, production, or processing of collagen (or proteins interacting with collagen).
The inheritance pattern for Ehlers-Danlos syndrome varies for each type and may be inherited in an autosomal-dominant or autosomal-recessive pattern.
There are six types of Ehlers-Danlos, and they are each different in their combination of clinical effects, inheritance patterns and gene mutations. Hypermobility type is the most common. The classical type, which has joint and skin symptoms, is caused by a mutation in type V collagen. Vascular type, which causes vascular and organ rupturing, is due to a deficiency in type III collagen.
In hypermobility type Ehlers-Danlos, patients have joint hypermobility, which can manifest as joint instability and chronic musculoskeletal pain. They experience frequent joint dislocations and subluxations.
In classical Ehlers-Danlos, there is a defect in type V collagen, as well as type I. Patients have skin involvement, showing hyperextensible and elastic skin.
In one of the presentations of Ehlers-Danlos, the vascular type, patients have a defect in type III collagen synthesis. They have a propensity to bleed subcutaneously because blood vessels are prone to tearing, causing bruising without trauma (ecchymoses).
Patients with vascular type Ehlers-Danlos have a defect in type III collagen synthesis, leading to fragile organs and blood vessels, which are prone to rupturing. Patients are at high risk of developing aneurysms and organ ruptures.
This criteria suggests that to diagnose Ehlers-Danlos syndrome, patients must have two major criteria, one major and two minor criteria, or four minor criteria. Major criteria include a Beighton score of >4/9 and arthralgias for longer than three months and four or more joints. Some of the minor criteria include marfanoid habitus, abnormal skin, soft tissue rheumatism, and subluxation/dislocation in one or more joints.
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