Ieva Berankytė¹, Ignė Balsytė¹

¹Faculty of Medicine, Vilnius University, Vilnius, Lithuania

Abstract

Ehlers-Danlos syndrome is a rare genetic condition classified into 13 subtypes based on clinical presentation, genetic mutation type and inheritance pattern. The classical Ehlers-Danlos subtype is one of the most common and usually presents with skin hyperextensibility, joint hypermobility and various manifestations in other systems of the body. The diagnosis of classical Ehlers-Danlos subtype is based on clinical evaluation and genetic findings. The complexity of possible symptoms requires that clinicians of various specialties be able to recognize a possible Ehlers-Danlos patient and refer them to genetic testing. Management of such patients continues to be complicated due to lack of research and standardized guidelines, as the syndrome presents in multiple systems. This results in an individualized approach to each case as a core management principle.

Aim: To conduct a literature review on the classical subtype of Ehlers-Danlos syndrome.

Methods. A literature review on “PubMed” database was conducted using the keywords classical Ehlers-Danlos subtype, characteristics, treatment, and management. Full articles in English were analyzed. Due to limited existing data, no time restriction was applied to citations.

Keywords: classical Ehlers-Danlos subtype, characteristics, treatment, management.