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Cholelithiasis in patients with variegate porphyria
A L Herrick1, M R Moore, G G Thompson
1University Department of Medicine and Therapeutics, Western Infirmary, Glasgow, United Kingdom.
Journal of Hepatology
|January 1, 1991
Summary
Patients with variegate porphyria (VP) have an increased risk of gallstones. Protoporphyrin in gallstones may indicate this risk, with surgery potentially triggering fatal attacks in undiagnosed cases.
Area of Science:
- Biochemistry
- Gastroenterology
- Genetics
Background:
- Variegate porphyria (VP) is a rare genetic disorder characterized by the overproduction of porphyrin precursors.
- Cholelithiasis, or gallstones, is a common gastrointestinal condition.
- The relationship between VP and cholelithiasis has not been extensively studied.
Observation:
- Four patients with VP presented with symptoms related to gallstones.
- Two patients with known VP underwent successful cholecystectomy.
- One patient, undiagnosed with VP at the time of surgery, experienced a fatal porphyric attack post-cholecystectomy.
Findings:
- Protoporphyrin, a major heme precursor overproduced in VP, was detected in gallstones from affected patients.
- This suggests a potential link between VP pathophysiology and gallstone formation.
- The presence of protoporphyrin in gallstones may serve as a biomarker for increased risk.
Implications:
- Patients with VP may have a higher predisposition to developing gallstones.
- Cholelithiasis management in VP patients requires careful consideration of their underlying condition.
- Undiagnosed VP poses a significant risk during surgical procedures like cholecystectomy, potentially precipitating life-threatening porphyric attacks.