Ehlers-Danlos syndrome classic type

Ehlers-Danlos syndrome, type 1, Ehlers-Danlos syndrome, type 2

Overview

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 classic type (formerly EDS type I and II) noticeably affects the skin. The skin is usually smooth, velvety, abnormally stretchy (hyperelastic), and very fragile; it tends to tear with minor trauma, especially over pressure points (knees, elbows). Wounds may heal slowly and split open with little bleeding, leaving thin and wide “cigarette paper” scars (atrophic scars). Babies may appear “floppy” due to low muscle tone (hypotonia), and may take longer to develop motor skills. About half of those with classical type EDS have mitral valve prolapse, which affects blood flow between the chambers of the heart. Less common but severe complications include spontaneous ruptures of large arteries.

Other symptoms, similar to hypermobility type, may include easy bruising, joints that dislocate easily, joint pain, fatigue, and muscle cramping. There is no cure for classical type EDS; it is a life-long condition that requires close monitoring. Management includes physiotherapy, padding, lifestyle changes, plus yearly echocardiograms for people with related heart complications.

Classical type EDS is usually passed through families in an autosomal dominant manner, meaning only one copy of the changed or mutated gene is needed to have the condition. About 50% of people with the condition are the first in their families to have the genetic mutation. If you or your child has been diagnosed with classical type EDS, 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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