Advances in Clinical and Experimental Medicine

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Advances in Clinical and Experimental Medicine

2010, vol. 19, nr 4, July-August, p. 537–542

Publication type: review article

Language: English

Ehlers-Danlos Syndrome

Zespół Ehlersa-Danlosa

Izabela Dereń-Wagemann1,, Małgorzata Kuliszkiewicz-Janus1,, Joanna Schiller1,

1 Department of Hematology, Blood Neoplasms and Bone Marrow Transplantation, Wroclaw Medical University, Poland

Abstract

Ehlers-Danlos syndrome (EDS) is a group of genetically determined vascular purpura. The pathological changes mainly involve joints, skin and the vascular wall. The incidence of the EDS is 1 per 20 000–100 000 births. The defects involve the structure of collagen as well as other enzymes associated with it. Today there are the following types of EDS: classical, hypermobility, vascular, kyphoscoliotic, arthrochalasia and dermatosparaxis. The individual types of EDS are accompanied by complications of heart muscle, respiratory system, gastrointestinal tract, eyes, teeth, periodontal tissues and obstetric problems. The current paper presents issues relating to epidemiology, pathogenesis, clinical manifestations and treatment of various forms of Ehlers-Danlos syndrome.

Streszczenie

Zespół Ehlersa-Danlosa (ZED) to grupa genetycznie uwarunkowanych skaz naczyniowych. Zmiany dotyczą głównie stawów, skóry i ścian naczyń krwionośnych. Częstość występowania zespołu wynosi 1/20 000–100 000 urodzeń. Defekty dotyczą budowy kolagenu oraz związanych z nim enzymów. Obecnie rozróżnia się następujące postacie zespołu: klasyczną, z nadmierną ruchomością stawów, naczyniową, kyfoskoliotyczną, z wiotkością stawów oraz skórną. Poszczególnym postaciom ZED towarzyszą powikłania ze strony mięśnia sercowego, układu oddechowego, przewodu pokarmowego, oczu, zębów, tkanek okołozębowych oraz problemy położnicze. W pracy przedstawiono problemy dotyczące epidemiologii, patogenezy, objawów klinicznych oraz leczenia poszczególnych postaci zespołu Ehlersa-Danlosa.

Key words

Ehlers-Danlos syndrome, classification, symptoms

Słowa kluczowe

zespół Ehlersa-Danlosa, klasyfikacja, objawy

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