Ehlers-Danlos Syndrome Overview

 

Ehlers-Danlos Syndrome (frequently referred to as EDS) is a group of heritable connective tissue disorders caused by a mutation in one of several genes controlling collagen production (a structural protein that accounts for 40% of all proteins produced in the body). It is estimated that the combined frequency of all the types of EDS is 1 in every 5,000 people (approximately 0.02% of the population).

 

EDS was first recognized as a distinct disorder in 1902 by Edvard Ehlers, and defined by Henri-Alexandre Danlos in 1908. In the 1930s, the syndrome was named Ehlers-Danlos after the two men that described it. EDS was first organized into types in the 1960s and there were originally 10 recognized subtypes of EDS. In 1997, EDS was reclassified into six major types with descriptive names in an attempt to standardize diagnosis: arthrochalasia, classic, dermatosparaxis, hypermobile, and vascular. Although the types are classified separatly, cases may not fall distinctly into one type, leading to variations in diagnostic practices.

 

The hallmark symptoms of EDS are stretchy, fragile skin, hypermobile joints (appears as “double-jointedness”), easy bruising, and abnormal scarring, although symptoms vary greatly from person to person. Each subtype has a different subset of symptoms, but many symptoms are common to all the types. Although EDS can affect both males and females equally, females are generally more severely affected than males, likely due to the effect that estrogen has on collagen production.

 

EDS can be hard to diagnose because the abundance of collagen in the body can lead to scattered, seemingly unconnected symptoms and the severity of the disorder varies from person to person, even within families. Diagnosis of EDS is mainly contingent on physical examination of the patient and family history. Genetic testing is available for some types, although is currently relatively inaccurate as definitive diagnostic tool.