Epidemiology
The combined prevalence of the acute porphyrias is approximately 5 per 100,000 population.[6] It is more common in women than in men. Prevalence of AIP is greater in northern Sweden (approximately 100 per 100,000 population) due to a founder effect.
Studies of genomic databases suggest that only about 1% of people with one likely-pathogenic hydroxymethylbilane synthase (HMBS) variant experience AIP attacks. Most heterozygotes do not develop symptoms and are therefore not diagnosed. Unknown modifying genes may be important in determining the penetrance of HMBS gene mutations.[2][7]
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