血液疾患と輸血ジャーナル

概要

Variable Manifestations of Severe Hypoprothrombinemia (Factor II Deficiency): 2 Cases

Sirisha Rani S, Darshak Makadia, Lokesh Lingappa, Nikit Shah and Ramesh Konanki

Case 1 is a 28 months female child, who has been symptomatic from 8 month of age with multiple, painful bruises over legs once in 5 to 6 weeks. Her complete blood picture was normal.PT and APTT were prolonged with normal fibrinogen and liver function. Case 2, became symptomatic from day 2 of life. He was treated for blood stained vomiting and black coloured stool and severe anaemia. Second episode was subdural hemorrhage and seizures. Investigations revealed abnormal PT and APTT with normal fibrinogen and liver function. Hereditary prothrombin deficiency is one of the rare congenital coagulation defect encountered in clinical practice. High index of suspicion is required to diagnose this condition with systematic approach as the facility to check factor 2 levels are not freely available in many centres. Bleeding manifestations are dependent on factor level. Children with severe deficiency are prone for life threatening bleeds. We report couple of children who had severe form of hereditary prothrombin deficiency with variable clinical manifestations. In both the cases, coagulation profile was suggestive of common pathway defect, PT and APTT were prolonged. Fibrinogen and Liver function tests were normal. No evidence of sepsis, no response to vitamin K. Further evaluation revealed low prothrombin activity (<1%). Factor v and x were normal.