Factor V deficiency with a unique genetic mutation presenting as post-circumcision bleeding in a neonate,...

Factor V deficiency is a rare bleeding disorder with varying presentations from minor mucosal bleeding to a life-threatening postoperative bleed. Currently, treatment is mainly supportive with Fresh Frozen Plasma.

A previously healthy 14-day-old male presented with an uncontrollable bleeding following a circumcision. Physical examination was normal. Investigations showed hemoglobin 15.5 g/dl, platelets 409000, Prothrombin Time 57 seconds, Partial-Thromboplastin-Time 120 seconds. Mixing study corrected the coagulation profile, and the factor assay showed factor V activity of 11%. Genetic testing showed a pathogenic frameshift mutation in the F5 gene p.(P927Lfs*7) causing premature termination after 7 codons thus the diagnosis of Factor V deficiency was made.

In this case, factor V deficiency presented as post-circumcision bleeding. For diagnosis, increased PT and PTT with normal thrombin time increases the index of suspicion for a bleeding disorder. Further testing with coagulation factors assays is required to make the final diagnosis. Factor V deficient patients undergoing surgery should be adequately prepared, and factor V activity level should be maintained at least at 25% of the normal activity level. The patient level prior to the circumcision was unknown, which led to the life threatening bleed.

One of the early presentations of factor V deficiency is a post-circumcision bleeding. Adequate preparation with laboratory tests before circumcision is therefore recommended, especially for high-risk individuals. More than 100 genetic mutations were detected; frameshift mutation involving F5 gene p.(P927Lfs*7) was seen in our case.