[Ehlers-Danlos syndrome--diagnosis and subclassification].
BACKGROUND
Ehlers-Danlos syndrome is the most frequent heritable connective tissue disorder, and a differential diagnosis to known disorders of the muscle and skeletal system. Defects in collagen fibres may lead to hyperelasticity and fragility of connective tissue, which again may result in joint problems, hernia, and rupture of blood vessels and inner organs.


METHODS
This review and discussion is based on articles identified by a PubMed search and personal clinical experience at rehabilitation and counselling departments.


CONCLUSIONS
Ehlers-Danlos syndrome has through the years been classified into different subtypes. Diagnostics is primarily a clinical task. The present diagnostic criteria for the syndrome and its subtypes are listed in the Villefranche nosology. According to this nosology, the hypermobility type is identical with the familial joint hypermobility syndrome. In the classical type, manifestations of the skin are important. The vascular type may result in fatal bleedings. Precise diagnostic criteria are important for differential diagnostics, rehabilitation, medical follow-up, and genetic counselling. We encourage use of the Villefranche classification and the associated criteria, although some of the manifestations could have been more accurately defined. Thorough examinations and accurate clinical descriptions of patients may enable studies of correlations between genotype and phenotype that could form the basis for use of molecular genetic diagnostics.
Rand-Hendriksen
Svend
S
TRS-kompetansesenter for sjeldne diagnoser, Sunnaas sykehus.
Wekre
Lena Lande
LL
Paus
Benedicte
B
D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D003094:Collagen / Q000737:chemistry / Q000235:genetics; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007593:Joint Instability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009154:Mutation
D003094:Collagen