A Rare Case of Deep Vein Thrombosis Secondary to Protein S Deficiency and Antithrombin III Deficiency with MTHFR (C677T) Heterozygous Mutation, and Crohn’s Disease

Abstract

Deep vein thrombosis is a condition wherein a thrombus develops in the deep veins of the body, most commonly in the legs, due to increasing tendency of the blood to coagulate. One such reason is the MTHFR gene mutation, wherein an increase in homocysteine levels causes irritation of the blood vessel endothelium, causing a disturbance in Virchow’s triad, hence triggering clot formation. [1] The MTHFR gene is responsible for instructing the body to produce an enzyme called methylene tetrahydrofolate reductase(MTHFR) [2]. MTHFR gene mutations can lead to a wide range of disorders, either as a result of the elevated levels of homocysteine in the blood, or due to folate deficiency. In about 25% of individuals globally, there is a mutation of MTHFR. The MTHFR 677C\u3eT mutation is predominantly seen in the Hispanic ethnicity, whereas the MTHFR 128A\u3eC is predominantly seen in the ethnicity groups belonging to south east Asia. In the Indian population, the MTHFR mutation prevails a low frequency of 2.9%. Diagnosis and treatment are required only in cases where secondary diseases occur as a result of MTHFR polymorphism, or if there is significant family history [4]. The treatment is along the same lines as that of another diagnosed individual without the mutation. In this case, the correlation between a genetic mutation of the MTHFR gene and Protein S and Antithrombin III deficiency, along with Crohn\u27s disease, which resulted in the development of DVT in a middle aged, male individual and its management is discussed