Introduction
Heritable disorders of connective tissues can be distinguished easily by a phenotype that is characterized by aberrant functioning of the extra cellular connective tissue matrix. The Ehlers-Danlos family of disorders is a group of related conditions that share a common decrease in the tensile strength and integrity of the skin, joints, and other tissues. (Beighton P: The Ehlers-Danlos syndromes. In: McKusick VA, Beighton P, Eds. McKusick's Heritable Disorders of Connective Tissue. 5th ed. Mosby-Year Book; 1993: 189-93.)
EDS is a heterogeneous group of heritable disorders of connective tissue, characterized by skin extensibility, joint hyper mobility and tissue fragility. There are different types of EDS and these were reclassified in 1997 into six major types, they are classified according to their symptoms and signs with each type running true in a family thus an individual with one type will not have a child with a different type.
EDS is caused by a defect in the collagen (connective tissue), which is the main building block in the body. Collagen provides strength for the different parts of the body. Some types are firm to give support, others are elastic to allow movement and strength, and still others resemble glue-binding protein together. Consequently, if it is defective, it can produce many problems.
Prevalence
EDS is known to affect both males and females of all races and ethnic backgrounds.
Diagnosis
Diagnosis is based on the presenting symptoms and family history. Diagnosis can be delayed or overlooked in some cases, as they do not fit conveniently into a specific type. A skin biopsy may be taken to study the connective tissue. Specific tests are available for certain types of EDS.
Prognosis
The prognosis depends on the specific type of EDS. Life expectancy can be shortened in the Vascular Type (type lV) due to the rupture of vessels and organs. Pregnancy can be life threatening in the Classical and Vascular Types (types l, ll, lV).
