The haemophilic pseudotumour

Abstract

The orthopaedic management of severe haemophilia is mainly concerned with intra-articular and intramuscular bleeding. Pseudotumour is a serious, but very rare, complication; it is a progressive cystic swelling involving muscle, produced by recurrent bleeding and accompanied by radiographic evidence of bone involvement. Ultrasonography, CT scan, MRI and vascular injection studies should be undertaken, but preoperative biopsy is contraindicated. Most pseudotumours are seen in adults and occur near the large bones of the proximal skeleton. However, a number develop distal to the wrist and ankle in younger patients before skeletal maturity. If untreated, proximal pseudotumours will destroy soft tissues, erode bone and produce vascular or neurological lesions. Surgical removal is the treatment of choice when it can be carried out in major haemophilia centres, and has a mortality rate of 20%. Regression, but not a true cure, may occur with long term replacement therapy and immobilisation; this conservative treatment is not recommended except in patients with high-titre inhibitors in whom operation is not a possibility. In these cases, percutaneous evacuation and filling with a fibrin seal or cancellous bone, depending on the size of the cavity, should be carried out. Distal pseudotumours should be treated primarily with long term factor replacement and cast immobilisation because they may respond to many modalities of conservative management. The presence of one or more progressively enlarging masses in the limbs or pelvis of a haemophiliac should raise the suspicion of a pseudotumour, although chondrosarcoma and liposarcoma have occurred in such patients.

Excision of a haeophilic pseudotumour of the ilium, complicated by fistulation

“…With improved substitution therapy, haeophilic pseudotumours are less frequently seen than in the past [ 3]. Our patient, who received adequate substitution therapy for many years, nevertheless developed a large destructive pseudotumour which increased dramatically within 4 years maximally.…”

“…Pseudotumours localized in the pelvis have a potentially fatal course [ 1]. In patients with progressive, symptomatic pseudotumour of the ilium, en ‐ bloc excision is recommended, but has a high complication rate caused by infection and chronic fistulation [ 1–3].…”

Haemophilic pseudotumour involving the right second metacarpal bone in a 5‐year‐old boy, treated by ray amputation

“…Although pseudotumour is common around the proximal (axial) skeleton, it has also been described distal to the wrist and ankle in children before skeletal maturity. A response to conservative management has been identified in one study [5]. Pseudotumour of the second metacarpal bone in this child did not regress with conservative management and was eventually managed with ray amputation of the index finger which is hitherto not reported.…”

Nacionalna priporočila za obravnavo bolnikov s hemofilijo

“…Potrebno je 6-tedensko nadomestno zdravljenje s koagulacijskimi faktorji, spremljanje s slikanjem z MR ter ob izboljšanju še nadaljevanje nadomestnega zdravljenja (167,168).…”