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. METHOD: Two cases of LT for AIP were identified retrospectively from a prospectively maintained LT database. RESULT: LT was successful with resolution of AIP in two patients who suffered from repeated acute attacks. CONCLUSION: LT can correct the underlying metabolic abnormality in AIP and improves quality of life significantly.
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. METHOD: Two cases of LT for AIP were identified retrospectively from a prospectively maintained LT database. RESULT: LT was successful with resolution of AIP in two patients who suffered from repeated acute attacks. CONCLUSION: LT can correct the underlying metabolic abnormality in AIP and improves quality of life significantly.
Authors: Makiko Yasuda; Angelika L Erwin; Lawrence U Liu; Manisha Balwani; Brenden Chen; Senkottuvelan Kadirvel; Lin Gan; M Isabel Fiel; Ronald E Gordon; Chunli Yu; Sonia Clavero; Antonios Arvelakis; Hetanshi Naik; L David Martin; John D Phillips; Karl E Anderson; Vaithamanithi M Sadagoparamanujam; Sander S Florman; Robert J Desnick Journal: Mol Med Date: 2015-06-05 Impact factor: 6.354
Authors: Joanna K Dowman; Bridget K Gunson; Darius F Mirza; Simon R Bramhall; Mike N Badminton; Philip N Newsome Journal: Liver Transpl Date: 2012-02 Impact factor: 5.799
Authors: Pascal Frei; Elisabeth I Minder; Natascia Corti; Beat Muellhaupt; Andreas Geier; Heiner Adams; Jean-Paul Dutertre; Alain Rudiger; Philipp Dutkowski; Marco Maggiorini; Christoph C Ganter Journal: Case Rep Gastroenterol Date: 2012-04-19
Authors: Helene J Bustad; Juha P Kallio; Marta Vorland; Valeria Fiorentino; Sverre Sandberg; Caroline Schmitt; Aasne K Aarsand; Aurora Martinez Journal: Int J Mol Sci Date: 2021-01-12 Impact factor: 5.923