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Ehlers-Danlos Syndrome (EDS)

Written by Bryan on February 2nd, 2010 in Health.

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Ehlers-Danlos Syndrome is an inherited abnormality that occurs about 1 in 5000 births worldwide. It equally affect across the genders and races. Most commonly occurring type is the hyper mobility type. It can be diagnosed early in life through DNA testing such as skin biopsy.

Mutations in the following can cause Ehlers-Danlos syndrome: (from Wikipedia)

Fibrous proteins: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, and TNXB
Enzymes: ADAMTS2, PLOD1

There is currently no cure for EDS and usually the doctors can prescribe various orthopedic devices to help support the hyper mobile joints. Also, one diagnosed with EDS may need to reduce or eliminate the activities that cause joints to over extend or lock in occasions.

There are several different classifications to EDS (from Wikipedia)

Name	Number	Description	OMIM	Gene(s)
Hypermobility	type 3	Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant or autosomal recessive mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant. Extreme flexibility is the hallmark of this type.	130020	COL3A1, TNXB
Classical	types 1 & 2	Affects approximately 2 to 5 in 100,000 people. It is caused by autosomal dominant mechanism and affects type-V collagen, as well as type I. Type 1 typically presents with severe skin involvement, and type 2 presents with mild to moderate skin involvement.	130000, 130010	COL5A1, COL5A2, COL1A1
Vascular	type 4	Is an autosomal dominant defect in the type-III collagen synthesis; affecting approximately 1 in 100,000 to 250,000 people. The vascular type is considered one of the more serious forms of Ehlers-Danlos syndrome because blood vessels and organs are more prone to tearing (rupture). Patients with EDS type 4 often express a characteristic facial appearance (large eyes, small chin, thin nose and lips, lobeless ears), have a small stature with a slim build, and typically have thin, pale, translucent skin (veins can usually be seen on the chest and abdomen). About one in four people with vascular type EDS develop a significant health problem by age 20 and more than 80 percent develop life-threatening complications by age 40.	130050	COL3A1
Kyphoscoliosis	type 6	Is an autosomal dominant defect due to deficiency of an enzyme called lysyl hydroxylase; it is very rare, with fewer than 60 cases reported. The kyphoscoliosis type is characterised by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness.	225400, 229200	PLOD1
Arthrochalasis	types 7A & B	Is also very rare, with about 30 cases reported. It affects type-I collagen. The arthrochalasia type is characterised by very loose joints and dislocations involving both hips.	130060	COL1A1, COL1A2
Dermatosparaxis	type 7C	Also very rare, with about 10 cases reported. The dermatosparaxis type is characterised by extremely fragile and sagging skin.	225410	ADAMTS2