Right elbow arthropathy in a patient with severe haemophilia A

A 56‐year‐old male had been diagnosed with severe haemophilia A at the age of one year (missense mutation, exon 10, variant NM_000132.3c.1537+1G). He had been treated on demand with plasma‐derived factor VIII (pdFVIII) concentrate for most of his life; he was not compliant with prophylaxis and attended the clinic only when he thought it was strictly necessary. In April 2017 he underwent an orthopaedic assessment, which showed severe arthropathy of both elbows, knees and ankles. In August 2017, he attended the clinic with a major haemarthrosis of the right elbow, which had not resolved with self‐medication. On physical examination, the right elbow was deformed with multidirectional laxity; paradoxically the range of motion was preserved. An X‐ray of the right elbow showed severe arthropathy with complete joint dislocation (upper images). There were also widespread areas of erosion and absorption of the articular surfaces; these were confirmed on computed tomography (CT) scanning (lower left image). The patient was treated for six days with pdFVIII concentrate at a dosage of 50 U/kg/day, and then the frequency of infusions was decreased to every other day. After the acute phase, he continued with pdFVIII 40 U/kg every other day with continued clinical improvement. A peripherally inserted central catheter was used to improve compliance with intravenous infusions. In April 2018 a switch was made to extended half‐life FVIII concentrate (recombinant FVIII‐Fc fusion protein, rFVIII‐Fc, efmoroctocog alpha) to reduce the frequency of infusions. Thereafter the patient accepted prophylaxis with rFVIII‐Fc, at a dosage of 50 U/kg every 96 h, with a FVIII trough level of approximately 10% and stable joint status. Such severe joint damage is now uncommon in patients with haemophilia A. Our patient is a reminder of the possible consequences if prophylaxis is either unavailable or is not accepted by the patient.