Diagnosis and treatment of acquired factor VIII deficiency: a case report and literature review

Abstract

Acquired haemophilia A (AHA) is a rare haemorrhagic disease characterized by spontaneous extensive subcutaneous haemorrhage and soft tissue haematoma. The activated partial thromboplastin time is significantly prolonged and cannot be corrected by normal plasma. Approximately 50% of AHA patients lack a specific aetiology, so this can easily result in a misdiagnosis. This current case report describes a 27-year-old male that presented with gingival bleeding, haematuria and haematochezia with no obvious cause. At first, it was thought that he might have experienced anticoagulant rodenticide poisoning, but the subsequent anticoagulant rodenticide test was negative. At the same time, the patient was screened for mutations associated with bleeding and coagulation diseases. Two mutations were identified: a p.Y471H mutation the plasminogen activator, tissue type (PLAT) gene; and a p.Y244Y mutation the serpin family E member 1 (SERPINE1) gene. It should be noted that patient had no previous history of thrombosis or haemorrhagic disease, which confused the diagnosis. A professional haemophilia research centre provided clarification of the diagnosis when anti-factor VIII antibodies were detected. The patient was treated with 30 mg/day prednisone orally. Multiple follow-up examinations showed continuous complete remission. No factor VIII antibodies were detected in his blood and coagulation factor VIII increased significantly.

Keywords: Bleeding disorders; acquired haemophilia A; anti-coagulation factor VIII antibody; coagulation factors; factor VIII.

Figure 1.

An initial physical examination of a 27-year-old male that presented with gingival bleeding, haematuria and haematochezia with no obvious cause showed that the leg circumference of the left thigh was greater than that of the right thigh.

Figure 2.

Computed tomography imaging of the lungs and abdomen of a 27-year-old male that presented with gingival bleeding, haematuria and haematochezia with no obvious cause showed double lung inflammation with bilateral pleural effusion and adjacent lung tissue insufflation (a); abdominal and pelvic effusion, thick peritoneum and omentum, and abdominal and pelvic wall oedema (b); bilateral femoral muscle space and subcutaneous fat and soft tissue oedema (obvious on the left) (c).

Figure 3.

A physical examination of a 27-year-old male that presented with gingival bleeding, haematuria and haematochezia with no obvious cause showed large areas of ecchymosis on the trunk, arms and tops of the thighs. The colour version of this figure is available at: http://imr.sagepub.com.

Figure 4.

Computed tomography imaging of the hip joints of a 27-year-old male that presented with gingival bleeding, haematuria and haematochezia with no obvious cause showed swelling of the left iliopsoas muscle, so bleeding could not be excluded.

Figure 5.

Treatment of acquired coagulation factor VIII (FVIII) deficiency.