Liver transplantation for acute intermittent porphyria: a viable treatment?
BACKGROUND
Acute intermittent porphyria (AIP) is the most common hepatic porphyria. Its clinical presentation includes severe disabling and life-threatening neurovisceral symptoms and acute psychiatric symptoms. These symptoms result from the overproduction and accumulation of porphyrin precursors, 5-aminoleuvulinic acid (ALA) and porphobilinogen (PBG). The effect of medical treatment is transient and is not effective once irreversible neurological damage has occurred. Liver transplantation (LT) replaces hepatic enzymes and can restore normal excretion of ALA and PBG and prevent acute attacks.


METHODS
Two cases of LT for AIP were identified retrospectively from a prospectively maintained LT database.


RESULTS
LT was successful with resolution of AIP in two patients who suffered from repeated acute attacks.


CONCLUSIONS
LT can correct the underlying metabolic abnormality in AIP and improves quality of life significantly.
King's College London School of Medicine at King's College Hospital, Institute of Liver Studies, King's College Hospital, Denmark Hill, Camberwell, London SE5 9RS, United Kingdom.
Faisal S
FS
Dar
Koji
K
Asai
Ali Raza
AR
Haque
Thomas
T
Cherian
Mohamed
M
Rela
Nigel
N
Heaton
D000328:Adult; D005260:Female; D006801:Humans; D008099:Liver / Q000201:enzymology; D016031:Liver Transplantation; D017094:Porphyrias, Hepatic / Q000601:surgery*; D011788:Quality of Life; D012189:Retrospective Studies; D016896:Treatment Outcome