Liver transplantation as a cure for acute intermittent porphyria.
Acute intermittent porphyria occasionally causes frequent and crippling acute neurovisceral attacks associated with increased hepatic production of porphyrin precursors, resulting in long-term damage, poor quality of life, and shortened life expectancy. There has been no cure for this condition, but replacement of deficient hepatic enzymes might restore excretion of porphyrin precursors to normal and prevent acute attacks. We aimed to treat severe acute intermittent porphyria in a 19-year-old woman by liver transplantation. After the transplant, concentrations of haem precursors in the patient's urine returned to normal, and 1.5 years later her quality of life was good. Our report suggests some hope of cure for selected patients with severe forms of this disease.
Liver Transplant Unit, Nuffield House, Queen Elizabeth Hospital, Birmingham B15 2TH, UK.
Zahir F
ZF
Soonawalla
Taner
T
Orug
Michael N
MN
Badminton
George H
GH
Elder
Jonathan M
JM
Rhodes
Simon R
SR
Bramhall
Elwyn
E
Elias
D000328:Adult; D000622:Aminolevulinic Acid / Q000652:urine; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D016031:Liver Transplantation / Q000379:methods; D017118:Porphyria, Acute Intermittent / Q000601:surgery* / Q000652:urine; D011788:Quality of Life; D016896:Treatment Outcome; D014577:Uroporphyrinogens / Q000652:urine
D014577:Uroporphyrinogens; D000622:Aminolevulinic Acid