Background. Paroxysmal nocturnal haemoglobinuria (PNH) is a rare acquired clonal disorder of hematopoietic stem cells involving all blood cells. Erythrocytes have increased susceptibility to
complement-mediated
haemolysis.
Thrombosis is the leading cause of mortality and follows episodes of acute
hemolysis.
Eculizumab, a
monoclonal antibody blocking activation of
complement C5 is currently used in the treatment of PNH. Recent results demonstrated that
eculizumab effectively reduces
thrombosis. Description of case. We present a 30-year-old male patient admitted with abdominal and lumbar
pain. Thorough investigation revealed severe
hemolytic anemia requiring transfusions and hepatosplenomegaly. Imaging findings were compatible with a
Budd-Chiari syndrome. Flow cytometry confirmed the PNH diagnosis. Due to refractory
ascites he underwent a transjugular intrahepatic portal-systemic shunt (
TIPS) and
eculizumab administration was started. Results. He has already completed three years of
eculizumab treatment and he is transfusion independent. There is also a significant reduction in
fatigue with improvement in his quality of life. Doppler scans of his
TIPS persistently show it to be patent. Conclusions. Classical PNH patients with
thrombosis and severe
intravascular hemolysis are particularly challenging to manage. For these patients,
eculizumab is a reasonable therapeutic option, expecting that by decreasing the risk for
thrombosis, life expectancy may be increased.