Ehlers-Danlos syndrome vascular type

Ehlers-Danlos syndrome, type 4


Type of disease: Rare conditions

Ehlers-Danlos syndrome (EDS) is a rare tissue disorder that has six specific types. EDS affects a person’s connective tissue, which separates, connects and supports different organs in the body. People with EDS usually cannot make enough normal collagen, a connective tissue protein.

Ehlers-Danlos syndrome vascular type (EDS IV, EDS type 4) is considered a more serious type of EDS because blood vessels and organs tend to be fragile and tear easily (rupture). The bowels and large arteries are prone to spontaneous rupture. In addition to loose joints and very stretchy skin, common symptoms include thin, translucent skin, characteristic facial features (large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears), small, slim build, easy bruising, bruising without trauma, and fragile arteries, intestine, and/or uterus. Pregnancy increases the likelihood of ruptures in the uterus or arteries. Babies with EDS IV may be born with hip dislocations and club foot (the foot is turned inward and downward).

EDS IV affects approximately 1 in 100,000 to 250,000 people and represents 5 to 10% of all EDS cases. There is no cure for EDS IV; it is a life-long condition that requires close monitoring. Management includes screenings by magnetic resonance imaging (MRI) or computed tomographic imaging (CT). Treatment may include surgery for arterial or bowel complications/rupture.

EDS IV is passed through families in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the defective gene in order to develop the disorder. It is caused by mutations in the COLA3A1 gene, which affects how collagen is made in the body. If you or your child has been diagnosed with EDS IV, talk to your doctor about the most current treatment options. A genetic counselor can be helpful to discuss inheritance and risks to other family members. Support groups are also available for more resources and information.

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