Novel Heterozygous Mutations of Congenital Thrombotic Thrombocytopenic Purpura: A Rare Case Report

Raj K Yadav, Kishore K Ariga, Arunkumar Subbiah, Soumita Bagchi, Sandeep Mahajan, Dipankar Bhowmik, Sanjay K Agarwal 
 Department of Nephrology, All India Institute of Medical Sciences (AIIMS), New Delhi, India

Correspondence Address:
Raj K Yadav
Department of Nephrology, 4^th Floor, Teaching Block, AIIMS, New Delhi - 110 029
India

Hereditary thrombotic thrombocytopenic purpura (TTP) is a genetic condition caused by mutations in ADAMTS13 gene, leading to very low levels of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type I domain 13) activity. It is a rare condition associated with multiple reported mutations. Here, we describe a case of hereditary TTP with a compound novel heterozygous mutation along with secondary focal segmental glomerulosclerosis. The patient responded clinically to plasma infusions with resolution of thrombocytopenia, stabilization of renal function, and control of blood pressures. Genetic analysis of the entire family helped in the characterization of the inheritance of this mutation. Our case illustrates the need for focused genetic analysis in a subset of patients presenting with features of TTP to decide the therapeutic plan and manage accordingly.