Causative & risk factors
Ehlers-Danlos syndrome is a genetic disorder that is passed on from the parents.
Clinical presentation
Different individuals with Ehlers-Danlos syndrome will show varying symptoms. The skin, blood vessels and joints are the main sites of affection. The skin becomes excessively stretchy and soft. The skin is fragile and wounds will not heal properly. Due to looseness of the connective tissue, the joints become excessively flexible. Small growths of fatty tissue are observed on knees, elbows or other joints.
Patients with a vascular form of Ehlers-Danlos syndrome have translucent skin and characteristic facial features such as prominent eyes, a slender nose and upper lip and very small earlobes.
The blood vessels of arteries become weakened, making them prone to rupture.
Complications include scarring of the skin, joint dislocation, arthritis and rupture of blood vessels or organs.
Investigations
The diagnosis of Ehlers-Danlos syndrome can be made on the basis of a positive family history and physical examination.
Genetic testing can be done to confirm the diagnosis.
Treatment
Ehlers-Danlos syndrome is an incurable condition. Treatment is aimed at relieving the symptoms.
Analgesic drugs are prescribed to relieve the pain. Anti-hypertensive drugs are given in order to maintain a low blood pressure.
Physiotherapy is recommended to maintain the joint structure and function.
Sometimes surgical intervention may be necessary to repair a damaged joint.
