Article
A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria.
Liver international : official journal of the International Association for the Study of the Liver - 1 Jul 2025
Merati Mohsen, Jayakumar Nanditha, Kapoor Yuvraaj, Naik Hetanshi, Balwani Manisha, Anderson Karl E, Bonkovsky Herbert L, Desnick Robert J, McGuire Brendan, Phillips John, Bissell D Montgomery, Wang Bruce
Abstract excerpt
BACKGROUND AND AIMS: This study aimed to characterise symptoms and assess the prevalence of elevated urine porphyrin precursors in first-degree relatives of acute hepatic porphyria (AHP) patients who have never experienced acute attacks and had no previous AHP genetic or biochemical testing. METHODS: 149 first-degree relatives of confirmed AHP patients, previously unscreened for the family mutation, were...
Topics
- Humans
- Female
- Male
- Adult
- Middle Aged
- Porphobilinogen
- Porphyrias, Hepatic
- Prospective Studies
- Aminolevulinic Acid
- Heterozygote
- Prevalence
- Surveys and Questionnaires