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Author: Dr Varitsara Mangkorntongsakul, Senior Medical Officer, Central Coast Local Health District, NSW, Gosford/Hamlyn Terrace, NSW, Australia. Dr Yi Jia Lee, Junior Medical Officer, North Metropolitan Health Service, WA, Perth, Australia. DermNet NZ Editor in Chief Adjunct A/Prof Amanda Oakley, Dermatologist, Hamilton, New Zealand. January 2020.
Ehlers–Danlos syndrome (EDS) is the name given to a group of inherited disorders that involve a genetic defect in collagen and connective tissue synthesis and structure . This results in:
The global frequency of EDS is about 1 in 5000. EDS may occur in males and females of all races and usually first appears in young adults.
EDS has autosomal dominant and autosomal recessive inheritance patterns.
Under the 2017 International Classification for Ehlers-Danlos Syndromes, there are thirteen subtypes of EDS, classified according to the clinical features, inheritance pattern and molecular genetic defects.
Each is a distinct disorder that ‘runs true’ in a family. This means that members of a family affected by EDS will share the same features. Some cases do not fit neatly into a known type of EDS, and a patient may show features of more than one type. Clinical manifestations and their severity can vary significantly, even within the same family.
Hypermobile EDS is the most common subtype of EDS, followed by classical EDS and vascular EDS. The other types of EDS are very rare.
See Subtypes of Ehlers–Danlos syndrome [view table in a new tab][2,3]
Collagen is one of the main building blocks of the body. It is a protein that is widely found in the structure of many tissues and organs of the body. 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.
A 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. The subtype of EDS depends on how collagen metabolism has been affected. For example, vascular EDS is caused by decreased or absent synthesis of type III collagen.
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.
Signs and symptoms differ in type and severity between the different types of EDS. Below is a summary of EDS clinical features based on systems.
Hypermobility in Ehlers–Danlos syndrome
Hyperextensibility in Ehlers–Danlos syndrome
Possible complications of Ehlers-Danlos syndrome include:
Suspicion of Ehlers-Danlos syndrome should lead to a careful history and examination. The definite diagnosis of specific variant usually requires tissue biopsy and molecular genetic analysis due to the vast variety of molecular defects and clinical overlap between EDS subtypes.
Detailed personal and family history of muscle, ocular, cutaneous, dental, cardiac, and respiratory conditions.
Molecular genetic testing confirms the diagnosis, except in the case of hypermobile EDS, which has an unknown genetic basis.
Diseases that may be confused with EDS include:
Management guidelines depend on the subtype of EDS.
The prognosis of patients with Ehlers-Danlos syndrome varies widely even within the same subtype. The majority of patients have a normal life expectancy and cognitive function. Individuals with vascular EDS may have a shorter life expectancy and are at higher risk of sudden death due to internal organ and major vessel rupture.
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