[Paroxysmal nocturnal hemoglobinuria--a rare disease with many faces].
BACKGROUND
Paroxysmal nocturnal haemoglobinuria (PNH) is a rare acquired clonal disorder of haematopoietic stem cells causing intravascular haemolysis, haemoglobinuria and occasionally severe venous thrombotic complications. PNH is associated with severe aplastic anaemia.


METHODS
A total of nine patients referred to and followed at Rikshospitalet University Hospital over a period of more than 20 years were evaluated and compared with other patient materials.


RESULTS
All patients are alive with a median observation time of 46 months (7-258 months). One patient has only limited clinical signs of PNH six years after diagnosis, one patient underwent allogenic bone marrow transplantation with an HLA-identical sibling and is healthy and free of disease nine and a half years posttransplant. Three patients have experienced severe thrombotic episodes, two with development of Budd-Chiari's syndrome despite anticoagulant treatment. Five patients including these two patients are being treated with anticoagulant therapy. Two patients probably having PNH have gone through pregnancies with normal delivery of healthy children.


CONCLUSIONS
These nine cases illustrate the many different aspects of this rare disease, including a relatively favorable prognosis with respect to survival.
Dalgaard
Jakob
J
Seksjon for blodsykdommer Medisinsk avdeling Rikshospitalet 0027 Oslo. jakob.dalgaard@rikshospitalet.no
Brinch
Lorentz
L
Tjønnfjord
Geir E
GE
D000293:Adolescent; D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D016026:Bone Marrow Transplantation; D006502:Budd-Chiari Syndrome / Q000209:etiology; D005260:Female; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis / Q000628:therapy; D011379:Prognosis
D000925:Anticoagulants
Paroksystisk nattlig hemoglobinuri--en sjelden sykdom med mange ansikter.