Title Klasikinis Ehlers Danlos sindromas: etiologija, simptomai ir gydymas. Literatūros apžvalga /
Translation of Title Classical Ehlers-Danlos syndrome: etiology, presentation and management. Literature review.
Authors Berankytė, Ieva ; Balsytė, Ignė
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Is Part of Medicinos mokslai = Journal of medical sciences.. Kėdainiai : VšĮ Lietuvos sveikatos mokslinių tyrimų centras. 2021, t. 9, Nr. 4, p. 90-101.. eISSN 2345-0592
Keywords [eng] classical Ehlers-Danlos subtype ; characteristics ; treatment ; management
Abstract [eng] 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 key-words 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.
Published Kėdainiai : VšĮ Lietuvos sveikatos mokslinių tyrimų centras
Type Journal article
Language Lithuanian
Publication date 2021
CC license CC license description