Ehlers-Danlos syndromes [47 genes]

Ehlers-Danlos syndrome (EDS) includes a group of clinically and genetically heterogeneous hereditary connective tissue disorders whose common characteristics are the presence of joint hypermobility, skin hyperextensibility, and tissue fragility.
According to the international classification of EDS, there are 13 subtypes of this syndrome, 12 of which have an associated genetic basis and whose inheritance patterns can be both dominant and recessive.

For classic Ehlers-Danlos syndrome, a prevalence of 1 / 20,000 is estimated. For other subtypes, however, at the moment there are no good data on prevalence estimates.

Genetic study in a suspected Ehlers-Danlos syndrome allows:

1. A diagnostic confirmation, which is often an important support in the differential diagnosis. Among the relevant pathologies for the differential diagnosis of Ehlers-Danlos syndromes are connective tissue pathologies and aortopathies (such as Marfan syndrome, Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome, or arterial tortuosity syndrome, among others), cutis laxa syndromes (type 1B is associated with defects in the EFEMP2 gene) and syndromes related to genetic defects in the FLNA and ATP7A genes.
2. The most precise study of a patient’s relatives so that carriers have access to an early/preclinical diagnosis and non-carriers can be safely discharged from cardiology consultations.
3. A prognostic approach, for each patient, depending on the type of genetic variant and the gene in which it is located.

This panel is indicated in the presence of data suggestive of connective tissue disease in individuals with joint hypermobility, skin hyperextensibility, and associated tissue fragility, in whom there is clinical suspicion of any of the subtypes of Ehlers-Danlos syndrome.

• Genes considered secondary within the Ehlers-Danlos syndrome panel are those involved in other connective tissue diseases that predispose to the development of vascular dilatation and/or rupture events.
• Among the relevant pathologies for the differential diagnosis of Ehlers-Danlos syndromes are connective tissue diseases and aortopathies (such as Marfan, Loeys-Dietz, Shprintzen-Goldberg, and arterial tortuosity syndromes, among others), cutis laxa syndromes (type 1B, associated with defects in the EFEMP2 gene), and syndromes associated with genetic defects in the FLNA and ATP7A genes.