February 29th is Rare Disease Day. In the hopes of raising awareness I pledged to write one post each day of the month of February about a different rare disease. This is the fifteenth installment.
Here I get to explain a bit about another connective tissue disorder that in certain areas also closely mimics my own symptoms. Some doctors I’ve seen have thought that perhaps EDS was the disorder I suffer from.
Day 15 – Ehlers-Danlos Syndrome
What is it? Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder. The degree in which a person suffers from the disorder can vary significantly from one individual to the next. There are also several different types of EDS, each one with a different potential severity and probable outcome. Each type also differs in prevalence. The classical type occurs in approximately 1 in 20,000-50,000 people, the hyper-mobility type about 1 in 10,000-15,000, the vascular type; 1 in 100,000 to 250,000, the kyphoscoliosis type; fewer than 60 cases ever reported, the arthrochalasis type; only around 30 known cases, and the rarest of all; dermatosparaxis, with only 10 recorded cases.
What effects does it have on the body? When you take into account the different body systems containing connective tissue along with each different type of EDS you get a wide range of possible effects. The most prevalent and characteristic features of EDS are extreme joint hyper-mobility along with multiple joint dislocations, skin that is often stretchy, translucent, silky, and/or easily bruised, scoliosis, low muscle tone, as well as possible eye problems such as dislocated lenses. Those with the vascular form of EDS are at a high risk of multiple artery and bowel ruptures, a dangerous, potentially fatal manifestation of the disorder.
How is it diagnosed? EDS is generally diagnosed by clinical findings along with the patient’s family history (though, not all cases are inherited, some are sporadic). In certain types of EDS a skin biopsy can be used to detect malformations of the connective tissue therefore aiding in diagnosis.
Did you know? Certain variations of EDS have been know to appear in animals such as himalayan cats, specific domestic short haired cats, and even in some breeds of cattle. It can also occur as a spontaneous condition in domestic dogs and has been found to be very similar to a disorder affecting horses known as degenerative suspensory ligament desmitis.
Where can I learn more? To learn more visit The Ehlers-Danlos National Foundation‘s website.