An Unusual Presentation of Hemophilia A: Pseudotumor of Distal End Radius—Masquerading as Giant Cell Tumor

Abstract

Hemophilia is a coagulation defect caused by a functional or absolute deficiency of coagulation factors. Deficiency of factor VIII leads to hemophilia A; deficiency of factor IX causes hemophilia B. Pseudotumor may arise from hemorrhage into the muscle and within the subperiosteal space and can lead to destruction of the adjacent muscle, bone, nerves, and vessels. A 60-year-old man presented with the complaint of pain and swelling in right wrist. The patient consulted the general practitioner who misdiagnosed it as a case of giant cell tumor due to typical X-ray changes. Biopsy was done following which there was prolonged bleeding leading to worsening of clinical condition and the patient presented in our hospital with ulcerated swelling. Routine blood investigations were within normal limit. Prothrombin time was 12.1 seconds and activated partial thromboplastin time (aPTT) was 54.3 seconds. Raised aPTT led to suspicion of hemophilia, and factor VIII and IX levels were investigated. Factor IX level was within normal limit. Factor VIII level was 6.3%. The patient was managed conservatively. Factor VIII level was replaced according to standard protocol (40 IU/kg per dose thrice a week for 10 days). Daily dressing was done using tranexamic acid locally. Lesion healed completely in 6 months.

Keywords

factor VIII - factor IX - hemophilia A - hemorrhage

• References

• 1 Kamal AF, Sukrisman L, Dilogo IH, Priyamurti H, Qomaruzzaman MN. Pelvic haemophilic pseudotumour: a case report. J Orthop Surg (Hong Kong) 2014; 22 (02) 263-268
• 2 Rodriguez-Merchan EC, Goddard NJ. Muscular bleeding, haematomas, and pseudotumours. In: Rodriguez-Merchan EC, Goddard NJ, Lee CA. eds. Musculoskeletal Aspects of Hemophilia. Oxford, UK: Blackwell Science; 2000: 85-90
• 3 Rodriguez-Merchan EC. The haemophilic pseudotumour. Haemophilia 2002; 8 (01) 12-16
• 4 Rodriguez-Merchan EC. Haemophilic cysts (pseudotumours). Haemophilia 2002; 8 (03) 393-401
• 5 Hedner U, Ginsburg D, Lusher JM, High KA. Congenital hemorrhagic disorders: new insights into the pathophysiology and treatment of hemophilia. Hematology (Am Soc Hematol Educ Program). 2000: 241-265
• 6 Rodriguez MerchanEC. The haemophilic pseudotumour. Int Orthop 1995; 19 (04) 255-260
• 7 Kwon AY, Huh KH, Yi WJ. et al. Haemophilic pseudotumour in two parts of the maxilla: case report. Dentomaxillofac Radiol 2016; 45 (06) 20150440
• 8 Magallón M, Monteagudo J, Altisent C. et al. Hemophilic pseudotumor: multicenter experience over a 25-year period. Am J Hematol 1994; 45 (02) 103-108
• 9 Pennekamp PH, Strauss AC, Klein C. et al. Giant haemophilic pseudotumour of the pelvis: case report and literature review. Haemophilia 2015; 21 (06) e484-e486
• 10 Scott JP, Montgomery RR. Hereditary clotting factor deficiencies (bleeding disorders). In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. eds. Nelson Textbook of Pediatrics. Vol. 2. 18th ed.. Philadelphia, PA: Saunders; 2007: 2060-2071
• 11 Rodriguez-Merchan EC. Musculoskeletal complications of hemophilia. HSS J 2010; 6 (01) 37-42
• 12 Duthie RB, Bentley G. eds. Mercer’s Orthopaedic Surgery. 9th ed.. New York, NY: Oxford University Press; 1996: 836-837
• 13 World Federation of Hemophilia. Guidelines for the Management of Hemophilia. Montreal. Canada: World Federation of Hemophilia; 2005
• 14 Fernandez de ValderramaJA. Hemophilic blood cysts. In: Brinkhous KM, Hemker HC. eds. Handbook of Hemophilia. Amsterdam, The Netherlands: Excerpta Medica; 1975: 425
• 15 Mittal S, Arora S, Khanna S, Maini L, Gautam VK. An unusual presentation of hemophilia B: pseudotumor of proximal tibia. Am J Orthop 2011; 40 (07) E138-E140
• 16 Brant EE, Jordan HH. Radiologic aspects of hemophilic pseudotumors in bone. Am J Roentgenol Radium Ther Nucl Med 1972; 115 (03) 525-539
• 17 Stafford JM, James TT, Allen AM, Dixon LR. Hemophilic pseudotumor: radiologicpathologic correlation. Radiographics 2003; 23 (04) 852-856
• 18 Ahlberg AK. On the natural history of hemophilic pseudotumor. J Bone Joint Surg Am 1975; 57 (08) 1133-1136
• 19 van Ommeren JW, Mooren DW, Veth RP, Novakova IR, van de Kaa CA. Pseudotumor occurring in hemophilia. Arch Orthop Trauma Surg 2000; 120 (07) [phone]
• 20 Magallón M, Monteagudo J, Altisent C. et al. Hemophilic pseudotumor: multicenter experience over a 25-year period. Am J Hematol 1994; 45 (02) 103-108
• 21 Heim M, Luboshitz J, Amit Y, Martinowitz U. The management of giant haemophilic pseudotumours. In: Rodriguez-Merchan EC, Goddard NJ, Lee CA. eds. Musculoskeletal Aspects of Hemophilia. Oxford, UK: Blackwell Science; 2000: 105-111
• 22 García-Pérez R, Torres-Salmerón G, Sánchez-Bueno F, García-López A, Parrilla-Paricio P. Intraabdominal hemophilic pseudotumor: case report. Rev Esp Enferm Dig 2010; 102 (04) 275-280
• 23 Ker K, Beecher D, Roberts I. Topical application of tranexamic acid for the reduction of bleeding. Cochrane Database Syst Rev 2013; 7: CD010562
• 24 Shaheen S, Alasha E. Hemophilic pseudotumor of the distal parts of the radius and ulna. A case report. J Bone Joint Surg Am 2005; 87 (11) 2546-2549