FOUR CASES OF CHOLESTATIC LIVER FAILURE IN ERYTHROPOIETIC PROTOPORPHYRIA - VARYING CLINICAL COURSE AND EXAMPLE OF EFFECTIVE MEDICAL TREATMENT

 

Staffan Wahlin1, Ulrika Broomé1, Pauline Harper2

 

1Department of Gastroenterology and Hepatology, 2Porphyria Centre Sweden, Karolinska University Hospital at Huddinge, Stockholm, Sweden

 

In the last decade, four Swedish patients with EPP have presented with cholestatic liver failure. All were male with several similarities in medical history. Liver histology differed, as did the clinical course, which may be described as acute, insidious and chronic liver failure, respectively. The first three had a fatal outcome, one after liver transplantation. When in cholestatic liver failure, the time window where treatment is meaningful is often short.

The fourth patient presented with acute onset cholestasis, reduced faecal protoporphyrin (PP) excretion and elevated urinary copropophyrin excretion. During transplant work up treatment was initiated aiming at; 1. reducing PP production, 2. reducing PP in transit, 3. reducing hepatic PP production and ameliorating heme deficiency by haemarginate infusions, 4. reducing hepatic PP toxicity, 5. inducing bile flow and 6. interrupting enterohepatic circulation. The condition was successfully reversed, resulting in complete normalization of liver function test within 80 days. Afterwards, treatment was de-escalated and the patient is doing well 6 months after onset of liver failure. Around 10% of all EPP patients diagnosed in Sweden present with life threatening cholestatic liver failure. We report the characteristics of four patients and an example of successful treatment of severe cholestatic liver failure in EPP.