Diagnosis
The diagnosis is based on the clinical appearance, symptoms, and is supplemented by a family examination (family history). In addition, a skin biopsy can be performed, in which the removed skin tissue is examined with an electron microscope and its collagen structure is assessed. Differentiation into the different types of Ehlers-Danlos syndrome is done by sequence analysis of DNA.
ClassificationTypes
Type I,II: Classic type; Heredity: autosomal dominant; Main symptoms: Hyperelasticity and fragility of the skin, atrophic scarring, joint hypermobility; Cause: collagen V formation disorder Type III: Hypermobile type; Heredity: autosomal dominant; Main symptoms: generalized joint hypermobility, skin involvement (hyperelasticity and/or soft vulnerable skin); Cause: Collagen V formation disorder type IV: vascular type; Heredity: autosomal dominant; Main symptoms: thin translucent skin, ruptures of the arteries, intestines and uterus, pronounced tendency to hematoma; Cause: collagen III formation disorder type V: corresponds to type I type VI: kyphoscoliotic type; Heredity: autosomal recessive; Main symptoms reduced tension of the musculature already at birth (“floppy-infant”), delayed development of holding and supporting reflexes, lateral bending of the spine (scoliosis); Cause: lack of lsysl hydroxylase Type VII A/B: arthrochalastic type; Heredity: autosomal dominant; Main symptoms severe generalized hypermobility of the joints with repeated dislocations, congenital, bilateral hip dislocation; cause: disturbance in collagen formation Type I Type VII C: dermatosparactic type; inheritance: autosomal dominant; main symptoms: pronounced skin fragility, pendulous skin, cause: lack of N-terminal procollagen I peptidase
Therapy and Prophylaxis
Neither a causal nor a symptomatic therapy is currently possible, therefore the prophylaxis of consequential damages is in the foreground. Injuries and greater stress on the joints should be avoided. For example, certain sports that are associated with an increased risk of injury should not be practiced.
Due to the increased risk of complications during pregnancy and birth in types I, II, IV and VI, close monitoring is necessary. Similarly, cough-suppressant therapy and general regulation of stool consistency should be considered for colds, as this can prevent colon rupture and pneumothorax. Through early physiotherapy, especially in children, a stabilization of the overstretchable joints can be achieved, which leads to an alleviation of the complaints of the entire locomotor system. Wounds must be cared for with particular care and operations should only be performed in emergencies, because wound healing takes 3 to 4 times longer than usual.
