In 1901 Dr Edvard Lauritz Ehlers, a Danish dermatologist working in Copenhagen, published the case of a patient with hypermobile joints, knee subluxation, hyperelastic skin and easy bruising. By the end of the first decade of the 20th century, additional cases had been described by a number of people including Dr Henri-Alexandre Danlos, a Parisian dermatologist. The term ‘Ehlers-Danlos Syndrome’ was first used in 1936 by Dr Frederick Parkes Weber, a British dermatologist based in London whose name is in fact associated with a number of (different) genetic conditions.
In truth, the first descriptions of what we now know as Ehlers-Danlos syndrome (EDS) predate Dr Ehlers’ description by up to 2000 years.
In the late 1960s, Dr Victor McKusick, a clinical geneticist based at the Johns Hopkins Hopsital in Baltimore (and generally known as the father of clinical genetics), and his research fellow Dr Peter Beighton (born in Lancashire and eventually Professor of Medical Genetics at the University of Cape Town), were the first to start to classify the different sub-types of EDS.
Types of EDS
Most types of EDS are known to result from inherited abnormalities in genes which control the structure and maintenance of connective tissue. Their symptoms are often very different from each other, although many share a common symptom: hypermobility.
The most recent international classification (2017) recognises 13 different sub-types of EDS, most of which are very rare. This replaced a number of previous classification systems which, until the late 1990s, used numbers (for example, Hypermobile EDS was once called type III EDS).
- Classic
- Classic-like
- Cardiac-valvular
- Vascular Hypermobile
- Arthrochalasia
- Dermatosparaxis
- Kyphoscoliotic
- Spondylodysplastic
- Musculocontractural
- Myopathic
- Periodontal
- Brittle cornea syndrome
The gene(s) responsible for most sub-types of EDS have been identified and in most cases these genes can be tested in a diagnostic laboratory. The only sub-type of EDS which remains completely unexplained is hypermobile EDS (hEDS); for this reason, there is currently no laboratory test for hEDS and it remains a clinical diagnosis.