Alcohol and Indian porphyrics

Area of Science:

• Biochemistry
• Genetics
• Internal Medicine

Background:

• Acute intermittent porphyria (AIP) is a rare genetic disorder affecting heme biosynthesis.
• Identifying triggers for AIP attacks is crucial for patient management.
• Alcohol is a suspected, but not definitively proven, trigger in diverse populations.

Purpose of the Study:

• To investigate the role of alcohol as a precipitating factor for acute attacks in Indian patients with acute intermittent porphyria (AIP).
• To assess the diagnostic utility of the Watson-Schwartz test following alcohol challenge in AIP patients.
• To determine the percentage of AIP patients at risk of acute attacks upon alcohol ingestion.

Main Methods:

• A cohort of 34 teetotal AIP patients in remission was administered 60 ml of 30% ethanol.
• The Watson-Schwartz test was performed before and within 24 hours after alcohol ingestion.
• Clinical attacks were monitored, with particular attention to patients with pre-existing positive tests.

Main Results:

• The Watson-Schwartz test became positive in 50% (16/32) of patients within 24 hours post-ethanol.
• A clinical AIP attack was precipitated in 23.5% (8/34) of patients.
• Patients with a baseline positive Watson-Schwartz test were also susceptible to alcohol-induced attacks.

Conclusions:

• Alcohol significantly precipitates acute attacks in a considerable percentage of Indian patients with acute intermittent porphyria.
• The presence of porphobilinogen in urine indicates a higher risk of developing an acute attack after alcohol consumption.
• This study provides the first evidence from India and is likely the first globally to demonstrate alcohol's role in precipitating AIP attacks.