Homozygous Factor V Leiden Thrombophilia in a Patient With Histologically Confirmed Thromboangiitis Obliterans.

Clinical Medicine Insights. Case Reports
Mussa MensaIain S Whitaker

Abstract

Thromboangiitis obliterans (TAO) is a vasculitis characterised by segmental occlusions of small to medium-sized arteries and superficial veins, and a curious predilection for young male smokers. The exact aetiology remains unknown. Current theories postulate it is an autoimmune endarteritis, triggered by some constituent of tobacco and occurring in genetically susceptible individuals. The disease can pose a diagnostic challenge, requiring a high degree of clinical suspicion, particularly in male smokers aged between 20-45 presenting with peripheral ischaemia. The fundamental principle of management is absolute tobacco abstinence. In this article, we report the case of a 27-year-old man who presented with infected, chronic wounds of his upper and lower extremities. He was initially treated with antibiotics and surgical debridement. Unfortunately he went on to develop a protracted course of complications due to poor wound healing ultimately leading to amputation of several digits. A diagnosis of TAO was suspected, and this was later confirmed histologically. Incidentally and of note, the patient was also found to be homozygous for factor V Leiden. An association between TAO and hypercoagulable states, specifically heterozygous fa...Continue Reading

References

Jul 11, 1998·Microvascular Research·P MerciéC Conri
Sep 6, 2000·Thrombosis Research·M BrodmannE Pilger
Sep 12, 2000·International Journal of Cardiology·R AdarJ Schneiderman
Dec 8, 2000·Thrombosis Research·F AvcuA Yalçin
Sep 17, 2003·Seminars in Vascular Surgery·Joseph L Mills
May 26, 2006·Orphanet Journal of Rare Diseases·Perttu E T Arkkila
Dec 1, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jody Lynn Kujovich
Jan 1, 2011·BMJ Case Reports·Vanda Cristina JorgeManuel Vaz Riscado

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Methods Mentioned

BETA
biopsy
amputation
amputations

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Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.

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