1. PAROXYSMAL NOCTURNAL HEMOGLOBINURIA AND LIVER TRANSPLANTATION, A NEW PARADIGM
- Author
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Ana Sánchez Martínez, Jose Antonio Morilla Fernandez, and José Antonio Pons Miñano
- Subjects
Hemolytic anemia ,medicine.medical_specialty ,business.industry ,medicine.medical_treatment ,Hemoglobinuria, Paroxysmal ,Gastroenterology ,Thrombosis ,General Medicine ,Budd-Chiari Syndrome ,Eculizumab ,Liver transplantation ,medicine.disease ,Chronic liver disease ,Hemolysis ,Liver Transplantation ,Transplantation ,Internal medicine ,medicine ,Paroxysmal nocturnal hemoglobinuria ,Humans ,Hemoglobinuria ,business ,Contraindication ,medicine.drug - Abstract
Paroxysmal nocturnal hemoglobinuria (PNH) is a type of hemolytic anemia acquired by the PIG-A gene mutation. This causes a deficiency of a complement regulatory protein, the CD59, which results in hemolysis, hemoglobinuria and thrombosis (due to the release of procoagulant factors). Budd-Chiari syndrome is characteristic in these patients and has classically been considered a contraindication for liver transplantation (LT) due to post-transplant recurrence. Since the approval of eculizumab for the treatment of PHN, disease control is possible and therefore the post-transplant recurrence of thrombotic phenomena involving the liver is avoided. Our patient is a 53-year-old man, with no relevant medical history, diagnosed in 1993 with hemolytic anemia (Coombs-, Ham-) and discharged with immunosuppressive and corticosteroid therapy, who was unable to suspend due to repeated hemolytic crisis. In 2004, abdominal ultrasound and abdominal CT were performed due to dyspeptic symptoms, showing stigmas of chronic liver disease, signs of portal hypertension and portal cavernomatosis secondary to Budd-Chiari syndrome. In 2006, the first clonality study was carried out, being conclusive with PHN. In January 2009, treatment with eculizumab was started and disease control was achieved without the need for corticosteroids. In 2018, he presented two episodes of hematemesis due to esophageal varices, so he was included on the waiting list for LT. Finally in February 2019 TH is carried out without complications. Eculizumab has changed the paradigm of this patient because it supposes a complete control of the hematological disease. In this way, liver cirrhosis secondary to PNH with secondary Budd-Chiari syndrome, goes from being a contraindication for LT to being one of the indications for it. There are few reported cases of transplantation in these patients, but they report good results as in this case(2-3).
- Published
- 2020
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