Ehlers-Danlos Syndromes

Ehlers-Danlos Syndromes (EDS)

EDS was first described by Hippocrates in the year 400 B.C. when he noticed that there was a distinct group of people who presented with bruising and blood disorders. However, it gained part of its name in 1901 when Edvard Ehlers, a dermatologist from Denmark, described it as being a unique syndrome. In 1908 France, Henri-Alexandre Danlos noticed that fragile and hyperextensible skin should be a part of that syndrome [1] . Hence, Ehlers-Danlos Syndrome was officially born.

Most EDS types are considered rare and may affect an estimated 1 in 3,500 to <1 in 1,000,000 [2] individuals, based on which type (sometimes referred to as a “subtype”) an individual possesses. However, it has been proposed that the most common type, hypermobile EDS (hEDS) may affect as many as 1 in 500 and therefore is not rare, but rather rarely diagnosed [3] .

Connective tissue holds the body’s bones, muscles, organs, and other structures in place; hence, it is literally found everywhere in the human body. It is made up of two proteins: collagen and elastin [4]. Collagen is a fiber-like protein that is part of the body’s building blocks. It helps to make the body’s connective tissue strong, resilient, hydrated, and elastic, and it makes up 30% of the body’s total protein. It is found in the skin, bones, muscles, tendons, cartilage, and more. [5] Elastin is another protein, found in lungs, bladder, large blood vessels, ears’ cartilage, skin and ligaments. But, it is more of a stretchy fiber, like a rubber-band or hair “elastic” [6].

EDS is inherited in either an (a) autosomal dominant pattern or (b) an autosomal recessive pattern. An autosomal dominant pattern means that an individual has one copy of a mutated gene and one copy of a normal gene. So, this inheritance pattern needs just one parent to pass down the gene mutation [7]. An autosomal recessive pattern requires two mutated genes. Consequently, the biological parents must both have the genetic mutation and pass it down to the affected descendant [8]. Therefore, inheriting an autosomal recessive type of EDS is extraordinarily rare [9].

2017 International Diagnostic Criteria, Genetic Markers, Symptoms and Prevalence
As of 2017, there are 13 types of EDS, pursuant to research and discussion conducted by an international forum of EDS specialists from around the world [10]. The previous 1997 Villefranche Nosology [11] only categorized six main types with descriptive features (classical, vascular, hypermobile, arthrochalasis, kyphoscoliotic, and dermatosparaxis). The newer types include expanded forms of EDS and rarer forms that had been identified more recently, along with the major and minor diagnostic criteria, and the genetic markers responsible for each type.

EDS is usually diagnosed by a geneticist (or less often, a rheumatologist – depending on the country you live in) who has extensive knowledge about EDS, its types, symptoms, and diagnostic criteria. Doctors who wish to diagnose EDS must weigh both “major criteria” and “minor criteria” in assessing whether a patient has a particular form of EDS. In addition, there are genetic markers for all forms of EDS, except for Hypermobile EDS (hEDS) and certain Classical EDS (cEDS) patients. Therefore, other than hEDS most other suspected forms of EDS require molecular genetic testing to confirm accuracy.

This section focuses on information regarding the 13 types of EDS, the major and minor diagnostic criteria, genetic markers, prevalence, symptoms, and other useful information to help educate doctors, patients, loved ones, and others. This material, however, should not be used as a substitute for an official diagnosis by an experienced doctor.

More information on each type can be found below:
Classical EDS (cEDS)

Classical-like EDS (clEDS)

Cardiac-Valvular EDS (cvEDS)

Vascular EDS (vEDS)

Hypermobile EDS (hEDS)

Arthrochalasia EDS (aEDS)

Dermatosparaxis EDS (dEDS)

Kyphoscoliotic EDS (kEDS)

Brittle Cornea Syndrome (BCS)

Spondylodysplastic EDS (spEDS)

Musculocontractural EDS (mcEDS)

Myophatic EDS (mEDS)

Periodontal EDS (pEDS)

Sources

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[52] The Ehlers Danlos Society, “What is EDS?”, Online: https://www.ehlers-danlos.com/what-is-eds/ [Accessed November 11, 2023]

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