Sammanfattning
BACKGROUND Paroxysmal nocturnal haemoglobinuria (PNH) is a rare haematological disease characterised by chronic haemolysis, pancytopenia and
venous thrombosis. The condition is attributable to a lack of control of complement attack on erythrocytes, platelets and leucocytes, and can be diagnosed by
flow cytometry. In this quality assurance study, we have reviewed information from the medical records of all patients tested for PNH using flow cytometry at
our laboratory over a ten-year period.
MATERIAL AND METHOD In the period 2000 - 2010 a total of 28 patients were tested for PNH using flow cytometry at the Department of Immunology and
Transfusion Medicine, Oslo University Hospital. We have reviewed the results of these examinations retrospectively together with information from medical
records and transfusion data for the patients concerned.
RESULTS Flow cytometry identified 22 patients with PNH: four with classic disease and 18 with PNH secondary to another bone marrow disease. Five
patients had atypical thrombosis. Seventeen patients received anti-thymocyte globulin or drug treatment; of these, six recovered from their bone marrow
disease, while six died and five had long-term transfusion requirements. Five patients with life-threatening bone marrow disease underwent allogeneic stem
cell transplantation, three of whom died. Six of 22 patients received eculizumab; the need for transfusion has been reduced or eliminated in three patients
treated with eculizumab over a longer period.
INTERPRETATION Flow cytometry identified PNH in a majority of patients from whom we obtained samples. Most patients had a PNH clone secondary to bone
marrow failure. Atypical thrombosis should be borne in mind as an indication for the test. Treatment with eculizumab is relevant for selected patients with
PNH.