A case of a periosteal reaction in a patient with paroxysmal nocturnal haemoglobinuria newly diagnosed with acute myeloid leukaemia: A South African perspective

Abstract

Paroxysmal nocturnal haemoglobinuria is an orphan disease and is a deficiency in more than one GPI-linked protein on red cells which makes them vulnerable to complement mediated lysis. The availability of treatment for PNH in the form of eculizumab is currently not available in resource poor countries such as South Africa. The rare clinical manifestation of a periosteal bone reaction and upper limb swelling in a 28year-old male patient with an established diagnosis of PNH prompted exclusion of infectious and thrombotic causes for the presumed periostitis and swollen limb. Confounders in this case were the presence of splenomegaly – a rare finding in PNH. Further examinations of haematological parameters revealed the presence of blasts with flow cytometry confirming an acute myeloid leukaemia.