Factor V Deficiency in a Patient with Polycythemia Vera and Huntington’s Chorea

Factor V deficiency is a very rare congenital disorder of blood coagulation, which was initially described by Owren in 1947. Ever since it is estimated that approximately 150 cases have been reported worldwide. We describe a case of a 31-year-old female, who was referred to the hemostasis unit of our clinic for investigation of a prolonged prothrombin time (PT) [PT: 14.8″ (control 12″)], along with a prolonged activated partial thromboplastin time (aPTT) [aPTT: 41.9″ (control 31.5″)]. These disorders were discovered in a pre-operating check-up, before being subjected to a removal of a thyroid gland node. Her medical history revealed that she had been diagnosed with polycythemia vera 6 years before, as well as Huntington’s chorea almost a decade earlier. The patient was under phlebotomy therapy once or twice a month, with no other specific treatment. She received acetylsalicylic acid (100mg/day), because of polycythemia vera, which had to be discontinued, due to mild ecchymoses and menometrorrhagia. Apart from the bleeding tendency mentioned above (attributed to administration of acetylsalicylic acid), no other hemorrhagic manifestations arose from her whole medical history. Her hematological profile was as follows: WBC: 7500/μl, Hb: 14,4 g/l, PLT: 710.000/μl. The patient’s hepatic and renal examination was normal. Repeat PT and aPTT after mixing with normal plasma gave normal results, thereby excluding the presence of a coagulation inhibitor and indicating deficiency of a factor in the common pathway. Factor V assay was done and it was found to be 15%. The examination of the rest coagulation factors was within normal range. The possible association of such a coagulation disorder with the aforementioned diseases has not been established until today. We therefore consider interesting the case described, not only because of its rarity, but also because of its underlying pathology and concomitant disease.