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  • WJPPS SEPTEMBER ISSUE PUBLISHED
  • SEPTEMBER 2020 Issue has been successfully launched on 1 September 2020.

Abstract

EHLER DANLOS SYNDROME

*H. Mehnaaz Anjum, A. S. Ezhilarasi, Jesipher C. Hannah, K. Kanagarani, Dr. Samhitha Chetty

ABSTRACT

Ehlers Danlos Syndrome is likely the most common, though the least recognized, heritable heterogeneous group of connective tissue disorder, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs with easy bruising and poor healing of wounds. It is now emerging as a multi-systemic disorder with widespread manifestations. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Medical intervention should be focused on symptomatic treatment and prophylactic measures. Life threatening complications require immediate hospitalization with continuous observation in an intensive care unit. Yet Surgery may be required to treat potentially fatal complications. Apparently, the non surgical approach is mostly applied to improve the condition.

Keywords: Ehler Danlos Syndrome, Pathophysiology, Diagnosis, Complication, Management.


[Full Text Article]

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