Paroxysmal nocturnal hemoglobinuria in Budd-Chiari syndrome: findings from a cohort study.
OBJECTIVE
A well recognized cause of Budd-Chiari syndrome (BCS) is paroxysmal nocturnal hemoglobinuria (PNH). PNH is an acquired disorder of hematopoietic stem cells, characterized by intravascular hemolysis and venous thrombosis. Testing for this hematological disorder should be considered in all BCS patients.


METHODS
Using data from the EN-Vie study, a multi-center study of 163 patients with BCS, we investigated the relationship between BCS and PNH in 15 patients with combined disease and compared the results to 62 BCS patients in whom PNH was excluded.


RESULTS
Median follow-up for the study group (n=77) was 20 months (range 0-44 months). BCS patients with PNH presented with a significantly higher percentage of additional splanchnic vein thrombosis (SVT) as compared to BCS patients without PNH (47% vs. 10%, p=0.002). During follow-up, type and frequency of interventions for BCS was similar between both groups. Six patients with BCS and PNH were successfully treated with a transjugular intrahepatic portosystemic shunt (TIPS). Of 15 patients with PNH, six underwent allogenic stem cell transplantation after diagnosis of BCS. PNH was successfully cured in five cases. There was no significant difference in survival between BCS patients with and without PNH.


CONCLUSIONS
This study shows that despite a higher frequency of additional SVT, short-term prognosis of BCS patients with PNH does not differ from BCS patients without PNH. Treatment with TIPS can be safely performed in patients with PNH. Stem cell transplantation appears to be a feasible treatment option for PNH in BCS patients.
Hoekstra
Jildou
J
Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center Rotterdam, 's Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands.
Leebeek
Frank W G
FW
Plessier
Aurelie
A
Raffa
Sebastian
S
Darwish Murad
Sarwa
S
Heller
Jörg
J
Hadengue
Antoine
A
Chagneau
Carine
C
Elias
Elwyn
E
Primignani
Massimo
M
Garcia-Pagan
Juan-Carlos
JC
Valla
Dominique C
DC
Janssen
Harry L A
HL
D000293:Adolescent; D000328:Adult; D000368:Aged; D000925:Anticoagulants / Q000627:therapeutic use; D006502:Budd-Chiari Syndrome / Q000150:complications* / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D015331:Cohort Studies; D005060:Europe; D005260:Female; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D008875:Middle Aged; D019168:Portasystemic Shunt, Transjugular Intrahepatic; D011379:Prognosis; D011446:Prospective Studies; D033581:Stem Cell Transplantation; D014184:Transplantation, Homologous; D016896:Treatment Outcome; D055815:Young Adult
D000925:Anticoagulants