Progress in diagnosis and treatment of acute intermittent porphyria in gynecology
10.3969/j.issn.1672-8467.2024.05.025
- VernacularTitle:急性间歇性卟啉病在妇科领域的诊治进展
- Author:
Yue WANG
1
;
Ke-Qin HUA
;
Wei-Juan XIN
Author Information
1. 复旦大学附属妇产科医院妇科 上海 200090;上海市女性生殖内分泌相关疾病重点实验室 上海 200011
- Keywords:
acute intermittent porphyria(AIP);
hydroxymethylbilane synthase(HMBS);
heme biosynthesis;
gonadotropin-releasing hormone agonists(GnRH-a);
gynecology
- From:
Fudan University Journal of Medical Sciences
2024;51(5):813-819
- CountryChina
- Language:Chinese
-
Abstract:
Acute intermittent porphyria(AIP)is a rare metabolic disorder primarily caused by a deficiency in hydroxymethylbilane synthase(HMBS),which severely impairs heme biosynthesis.AIP is characterized by severe abdominal pain and neurological symptoms,with acute attacks potentially leading to serious complications and life-threatening conditions.Although the prevalence of AIP is low,patients experience a significant decline in quality of life and bear considerable psychological burden,warranting close clinical attention.Diagnosis of AIP primarily relies on laboratory testing.Preventive and therapeutic strategies include avoidance of triggering factors,heme replacement therapy,and hormonal regulation.gonadotropin-releasing hormone agonists(GnRH-a)and hormone replacement therapy have shown efficacy in managing AIP attacks associated with the menstrual cycle,but close monitoring is necessary to mitigate adverse effects.This article reviews the pathophysiology,clinical features,and diagnostic approach of AIP,and explores its prevention and treatment strategies.
