Volume : IX, Issue : III, March - 2019

A case report of combined factor V and factor VIII deficiency

Dr K Arunajyoti, Dr R Murarji, Dr S Padmapriya

Abstract :

Combined deficiency of factor V (FV) and factor VIII (FVIII) (F5F8D, or FV+FVIII) is a autosomal recessive bleeding disorder which is caused by mutations in genes encoding two components of the endoplasmic reticulum (ER)–Golgi intermediate compartment (ERGIC–53), that is, lectin mannose binding protein (LMAN1) and multiple coagulation factor deficiency 2 (MCFD2), involved in the FV and FVIII intracellular transport rather than by DNA defects in the genes that encode the corresponding coagulation factors. F5F8D is estimated to be extremely rare (1:1,000,000) in the general population, but an increased frequency is observed in regions where consanguineous marriages are practiced. F5F8D is characterized by concomitantly low levels (usually between 5% and 20%) of both FV and FVIII and is associated with a mild to moderate bleeding tendency(1). We described a case of 8 months old male child who presented with prolonged bleeding with minor trauma, and echymotic patches. On evaluation there is increased clotting time, PT, APTT, INR with normal platelet counts and LFTs and decreased levels of both factor V and VIII. Child was given factor VIII concentrate and FFP which normalizes coagulation profile and symptomatic improvement.

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Article: Download PDF   DOI : 10.36106/ijar  

Cite This Article:

A CASE REPORT OF COMBINED FACTOR V AND FACTOR VIII DEFICIENCY, Dr K Arunajyoti, Dr R Murarji, Dr S Padmapriya INDIAN JOURNAL OF APPLIED RESEARCH : Volume-9 | Issue-3 | March-2019

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