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- haemophilic pseudotumour
- definite diagnosis
- surgical treatment
- perioperative management
A 37-year-old man with a 30-year history of haemophilia A presented to our institution with intensifying abdominal pain. The patient gave a history of paroxysmal and severe abdominal pain for approximately 2 years and stated that he had a family history of haemophilia A. No other relevant family or personal history was identified. Ultrasonography demonstrated severe hydronephrosis of the right kidney and a giant 20×15 cm retroperitoneal mass. His medical treatment included administration of recombinant factor VIII concentrate of 800 IU almost once a week for some years and analgesics. On further questioning, the patient stated the haemophilia A had been relatively well controlled on the maintenance dose of recombinant factor VIII prior to his admission. No major bleeding complications had occurred in the 6 months before admission. Laboratory tests revealed normal prothrombin time (11.1 s, normal: 10.4–12.6 s), normal factor VIII activity (103.3%, normal: 50.0%–150.0%), normal haemoglobin (160 g/L, normal: 120–160 g/L), creatinine (71 μmol/L, normal: 59–104 μmol/L) and no acquired antibodies. The patient denied experiencing any other constitutional symptoms and had no history of trauma, use of anticoagulant drugs or surgery during the past few years. A computed tomographic scan of the abdomen also demonstrated severe hydronephrosis of the right kidney and what were presumed to be multiple giant retroperitoneal haemophilic pseudotumours growing from the lower edge of the L1 vertebral body to the right femoral head (figure 1A,B). The presumed pseudotumours seemed to be composed of multiple cystic and solid components with an uneven thickness of the cystic walls and local areas of calcification. Abdominal enhanced MRI showed further irregularities, including significant compression of the adjacent right ureter and enlargement of the right kidney (figure 1C). Irregular cystic hypointense signals on T1-weighted image and hyperintense signals on T2-weighted image were seen in the retroperitoneum. Compression and stenosis of the middle segment of the right ureter, severe dilatation and hydronephrosis, enlargement of the right kidney and thinning of the renal parenchyma were also evident. After detailed analysis, the patient underwent surgical excision of the giant haemophilic pseudotumours while receiving perioperative coagulation factor replacement therapy. Complete excision of the haemophilic pseudotumours was performed to alleviate the patient’s abdominal symptoms and to prevent exacerbation of the right-sided hydronephrosis. During the operation, the right kidney was seen to have been displaced to a higher position by the mass; the right iliac artery was also compressed. The biggest abdominal haemophilic pseudotumour was about 20×15×15 cm with distinct boundaries, a fixed base, poor mobility and a hard, firm texture. The tumours contained several cysts containing large amounts of dark brown and chocolate-like viscous liquid. The operative specimen, which comprised all the tumours, was sent for pathological examination. Because of the size, location and extent of the tumours, the risk of surgical intervention was exceedingly high; therefore, extensive assessment of preoperative cardiovascular functions and intraoperative monitoring were implemented. At the 3-year follow-up visit, he reported significant pain relief, no other symptoms and no perioperative complications.
Haemophilic pseudotumours, a rare complication that occurs in some patients with severe haemophilia, result from multiple episodes of bleeding into bones and soft tissues.1 Most of the morbidity from haemophilic pseudotumours is attributable to their compression of the surrounding structures, especially in the case of abdominal lesions.1 2 Giant abdominal haemophilic pseudotumours are highly unusual; thus, no standard curative management has yet been established. Because of their rarity and high risks, treatments for abdominal haemophilic pseudotumours are still the subject of research. Possible treatments include medications, radiation therapy, ultrasound-guided puncture, vascular embolisation and surgical excision. Surgical treatment has been recommended for progressively enlarging haemophilic pseudotumours and lesions resulting in haemodynamic deterioration or occurrence of other complications.1 2 In general, both major neurovascular involvement and distortion of anatomy caused by these lesions often prevent performance of a safe and complete operative procedure. The risk of surgical bleeding can be minimised by rational administration of factor VIII at induction, during and after the surgery under the close supervision of haematologists.2 3 Frequent monitoring to maintain adequate levels of factor VIII makes surgical procedures much safer. In the case of our patient, continuous factor VIII replacement therapy was effective in preventing bleeding complications during the operation and subsequent prolonged hospitalisation. To summarise, on the day of and the first day after the operation, the dose of factor VIII should be 50 IU/kg three times a day; on the second and third postoperative days, it should be 30–40 IU/kg two times per day; on the fourth through seventh postoperative days, it should be 20–30 IU/kg two times per day; and from the eighth through 14th postoperative days, it should be 15–20 IU/kg two times per day. These doses can be modified according to the patient’s actual situation postoperatively. After discharge from the hospital, abdominal ultrasound should be performed regularly, and coagulation factor VIII should be infused appropriately to prevent recurrence of symptoms and to continue treatment of the primary haemophilia. The objective of this report was to present a rare case of hydronephrosis caused by giant abdominal haemophilic pseudotumours that were successfully managed by a combination of surgical procedures together with perioperative medical management. Our focus is to emphasise the importance of considering abdominal haemophilic pseudotumour in the differential diagnosis of patients with known haemophilia A and suggestive symptoms and to describe the optimal perioperative management strategy.
Contributors SL wrote the first draft of the manuscript and submitted the manuscript. XZ, AS and ZH were in charge of the patient and collected the data, SL and YL did the follow-up of the patient, and YW and YL critically revised the manuscript. YW and YL contributed equally to this paper. All authors approved the final version. All the listed authors contributed significantly to the manuscript preparation.
Funding This study was funded by Peking Union Medical College Graduate Student Innovation Fund.
Competing interests None declared.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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