An unusual Hemophilia: Acquired Coagulation Factor Inhibitor Le Yen Ly Nguyen, Pragti Garg, Arshdeep Singh, Amanpreet Kaur, Akhilesh Sharma, Matthew B Maturasingh, Dileep Duggineni, Dolshi Bhatia, Kanish Chandrashekhar, Daniela Benitez, Fabian Andres Lituma Orellana, Ratesh Khillan MD

Background Acquired Factor V deficiency (AFVD) is an exceedingly rare coagulation disorder, usually caused by development of an inhibitor, that may directly affect Factor V/V activity (FVa) or storage and processing of the protein. Only approximately 200 case reports or case series describing this disorder have been reported in the literature. Presenting symptoms include bleeding from gastric, urinary, and respiratory mucosa, post-surgical bleeding, hematoma, intracranial and retroperitoneal bleeding with hematuria being the most common. Several diagnoses may be postulated for patients affected by bleeding i.e., platelet deficiency or deficiency of coagulation factors. AFVD should also be considered in patients who present with bleeding after ruling out more common bleeding conditions. With the fact that AFVD is an extremely rare disorder, the optimal treatment of patients with factor V inhibitors is uncertain with no Factor V concentrates available. In this study, we present a unique case of an 81-year-old African American male with AFVD without any history of autoimmune diseases, surgery, malignancy, exposure to bovine thrombin or recent antibiotics use.

Case presentation An 81-year-old African American male presented to our clinic in 2013 after being admitted to hospital with chest pain, where he subsequently developed a hematoma on his lower abdomen and bilateral thighs, painless macrohematuria, anemia, and swelling of left extremities. The bloodwork showed hemoglobin 6.0, INR 6.7, aPTT >100.0, and normal coagulation factor activity except for FVa <1.5%. Mixing studies showed presence of Factor V inhibitor. Following discharge, he experienced recurrent painless macrohematuria. The patient was started on oral prednisone, and the dose was adjusted according to FVa. 4 cycles of Rituximab were also given. In subsequent years, he developed recurring painless superficial bruises on elbows, abdomen, back and thighs, microhematuria and epistaxis. The patient was given 4 cycles of Cytoxan along with Prednisone, a few months later followed by Dexamethasone pulse therapy to maintain FVa levels. Presently, the patient’s FVa is at 80%, and he has been taking oral Prednisone daily for the past 11 years.

Discussion Acquired hemophilia is a rare hematological disorder mostly affecting Factors VIII or IX due to a clotting factor inhibitor. Although inhibitors may affect any clotting factors, Factor V inhibitor is exceedingly rare, making treatment challenging with no standards. Our patient responded to cyclophosphamide and prednisone. His treatment course included a drop in factor V levels without bleeding, managed by increasing steroid doses.