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Semiological questioning: Ehlers-Danlos, an ignored stiff or steep syndrome?

The role of hypermobility in the diagnosis of the disease/syndrome of Ehlers-Danlos

A necessary reality check facing the observation of the clinical facts

September 2012


The absence of genetic tests, the non-specificity of the results of biopsies, the random aspect that are given by the results of Collagen cultures, make it so that currently the diagnosis of Ehlers-Danlos Syndrome solely rests on clinical criteria. These criteria are sufficient to affirm with certainty, the diagnosis.

Among these criteria, one of the most probing and best recognised by the medical community, is the articular hypermobility (or hyperlaxity). Since a few years this criterion has largely supplanted the excessive irritability of the skin on which Danlos accentuated much of his diagnosis, a criterion that is now recognised as often absent.

On the other hand, setting into the background a number of often revealing signs, such as bleeding, fatigue, diffused and rebel pains, the tendency that we are currently observing is one that aims at making hypermobility an indispensable criterion to fix the diagnostic.

This attitude isn’t realistic. Indeed, in many cases we find hypermobility in childhood with aptitudes like doing a “facial split”, putting one’s foot behind the head, or, when laid on one’s stomach, to touch the occiput with one’s heels. However 20 or 30 years later such things are no longer possible and an individual diagnosed with Ehlers-Danlos cannot even touch the ground with the tip of his hands! Hypermobility can diminish with aging. It can also be difficult to appreciate and observe in phases of pain and/or muscular tensions that are frequent in this patient who is diagnosed with all the other SED signs whilst existing in other members of the family.

It is also necessary to try and study the measurement methods of hypermobility. One test is now generally used, the Beighton evaluation. It consists in a score on a total of nine points, established by recording the hypermobility of 5 articulations (wrists, metacarpophalangeal of the fifth fingers, elbows, knees and hips during the forward flexing to touch the ground with the palm of one’s hands). This test was strongly criticised during the first international symposium, organised at Ghent (Belgium) in September 2012. The results varied from one examiner to the other, their way of administering the test isn’t identical. The choice of articulations to be tested is also questionable. The absence of the shoulder, one of the most problematic articulations is difficult to accept. Especially considering the fact that the attentive examination of the articular mobility of the lower limb puts in evidence musculotendinous retractions (knees and heels) in a majority of patients diagnosed with Ehlers-Danlos syndrome, added to which a frequent corollary is the negative response to the ‘palm to the ground’ test and to the hyper-extension of the knees.

These observations question the validity of the Beighton test and, more generally, the fact that hypermobility is an “inescapable” characteristic of the Ehlers-Danlos syndrome since the muscular-tendinitis retraction is one of its near to constant manifestations.

Found in 88% of cases on the occasion of a first study that we presented to the first international symposium on the Ehlers-Danlos syndrome in Ghent, the 8-9th of September 2012, it is now confirmed by a new study on 232 cases that finds the same prevailing number of 86%. These retractions are premature (59% in the group of children aged ten years and below). This changes completely the perception so far on this disease and opens perspectives for the research of its physiopathologic mechanisms.

The consequences on the semiology and therefore the diagnosis of the disease is considerable: A Beighton score deemed insufficient must not eliminate the diagnostic if other probing signs are present and that we may find such similarities in a family context, that is thus genetic. Moreover, a retraction in a young child must systematically incite us to look for other signs of the Ehlers-Danlos disease.

References: Cl. Hamonet, E. Vlamynck, N. Serre. Rétractions des muscles ischio-jambiers et syndrome d’Ehlers-Danlos hypermobile. Conséquences sur la mesure du test de Beighton. Discussion sur la valeur diagnostique de ce test. A propos de 119 cas. Premier symposium international sur le syndrome d’Ehlers-Danlos, 8-12 septembre 2012, Gand, Belgique.