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VASCULAR EHLERS-DANLOS SYNDROME IN A 38-YEAR-OLD WOMAN

https://doi.org/10.51523/2708-6011.2018-15-1-20

Abstract

Vascular Ehlers-Danlos syndrome is a rare inherited autosomal dominant disorder of connective tissue caused by a mutation in the procollagen III gene (COL3A1 gene). Among all the types of the disease the vascular type involves ~5-10% of cases. The diagnosis is based on clinical criteria and mutations in the COL3A1 gene. The treatment of Ehlers-Danlos syndrome is symptomatic, there is no specific treatment.

About the Authors

E. G. Malayeva
Gomel State Medical University
Belarus


E. E. Karpenko
Gomel City Clinical Hospital No.1
Belarus


E. V. Tsitko
Gomel Central City Polyclinic
Belarus


References

1. The international consortium on the Ehlers-Danlos syndromes / L. Bloom [et al.] // Am. J. Med. Genet. C. Semin. Med. Genet. - 2017 Mar. - Vol. 175, № 1. - P. 5-7.

2. The 2017 international classification of the Ehlers-Danlos syndromes / F. Malfait [et al.] // Am. J. Med. Genet. C. Semin. Med. Genet. - 2017 Mar. - Vol. 175, № 1. - P. 8-26.

3. Адаскевич, В.П. Классический тип синдрома Элерса-Данло у 56-летнего пациента / В.П. Адаскевич, О.В. Морозова // Вестник ВГМУ. - 2017. - Т. 16, № 6. - С. 107-113.

4. Сосудистый тип синдрома Элерса-Данло / М. В. Губанова, Л.А. Добрынина, Л.А. Калашникова // Анналы неврологии. - 2016. - Т. 10. - С. 45-51.

5. Germain, D. P. Ehlers-Danlos syndrome type IV. Orphanet / D. P. Germain // J. Rare Dis. - 2007. - Т. 2. - С. 32.


Review

For citations:


Malayeva E.G., Karpenko E.E., Tsitko E.V. VASCULAR EHLERS-DANLOS SYNDROME IN A 38-YEAR-OLD WOMAN. Health and Ecology Issues. 2018;(1):105-108. (In Russ.) https://doi.org/10.51523/2708-6011.2018-15-1-20

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ISSN 2220-0967 (Print)
ISSN 2708-6011 (Online)