What are the clinical features of Ehlers–Danlos syndrome? There are some types of EDS that are a result of other extracellular matrix disorders and its components (such as glycosaminoglycans) and of defects in intracellular processing. For example, vascular EDS is caused by decreased or absent synthesis of type III collagen. The subtype of EDS depends on how collagen metabolism has been affected. Several types of collagen exist, each with differing properties. Collagen can provide strength and firm support, it can be elastic to allow movement, or it can be used to bind things together.Ī genetic defect can cause reduced amounts of collagen, collagen disorganisation (collagen is usually organised into bundles), and alterations in the size and shape of collagen. It is a protein that is widely found in the structure of many tissues and organs of the body. See Subtypes of Ehlers–Danlos syndrome Ĭollagen is one of the main building blocks of the body.
Hypermobile EDS is the most common subtype of EDS (MIM 130020), followed by classical EDS (MIM 130000) and vascular EDS (MIM 130050). Clinical manifestations and their severity can vary significantly, even within the same family. Some cases do not fit neatly into a known type of EDS, and a patient may show features of more than one type. This means that members of a family affected by EDS will share the same features. The 2017 International Classification for Ehlers-Danlos Syndromes, describes thirteen subtypes of EDS, classified according to the clinical features, inheritance pattern, and molecular genetic defects.Įach is a distinct disorder that ‘runs true’ in a family. The autosomal recessive disease requires two copies of an abnormal gene to cause disease therefore, a child of two carrier parents is at 25% and 50% risk of developing the disease and being the carrier of a disease, respectively.There is a 50% chance that an offspring will inherit the abnormal gene from an affected parent. The autosomal dominant disease occurs when only one copy of an abnormal gene is required to cause a condition.EDS may occur in males and females of all races and usually first becomes apparent in childhood and young adult life.ĮDS has autosomal dominant and autosomal recessive inheritance patterns. The global frequency of EDS is about 1 in 5000.
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