EDS hypermobile type


Invisible Illnesses awareness week 2015

In March 2017 a new term has been introduced: hypermobile Ehlers-Danlos syndrome (hEDS). We mainly discuss this EDS type here since it is the most common that occurs with a variety of comorbidities, for example cervical spine instabilities.

HEDS is supposed to be the least threatening type. The main feature is hypermobility of the joints that lead to subluxations and dislocations. However, since hEDS commonly occurs with comorbidities like cranio-cervical instability, serious complications do happen and are not rare at all. Cervical spine instabilities make surgical treatment significantly more difficult and reduce the chances of success.

HEDS is diagnosed through clinical examination by a geneticist using the Beighton Score and new criteria that can be found here. Hypermobility is defined by a Beigthon score of 5 and higher.

At the moment hEDS is the only type that does not have a clear genetic cause. There is a small percentage of patients that harbor a TNXB (Tenascin XB) mutation but the significance of those mutations has not been scientifically proven.

 

(New! 2016 another potential gene has been identified: TPSAB1 )

There are a lot of comorbidities associated with EDS, especially with the hEDS. For example:

POTS (Postural Orthostatic Tachycardia Syndrome)
MCAS (Mastcell Activation Syndrome)
Chiari Malformation
CCI (cranio-cervical instability)
Gastrointestinal problems (like irritable bowel disease)
Mitralvalve regurgitation and insufficiency

The symptom complex HEDS + MCAS + POTS seems to occur together a lot and is now focus of some research projects.

Furthermore, it can come to chronic pain, fatigue, muscle weakness, early arthrosis, neuropathy, bleeding disorders, osteoporosis and myopathy.

More information about

Diagnostic

TNXB

 TPSAB1 

EDS comorbidities