Alcohol intolerance testing
Question:
10/17/2024
I am seeing a 35-year-old, white, female who complains of excessive flushing and some hives when she drinks any kind of alcohol. She does not have rosacea. Is there any lab that you know of that can provide tests for enzymes associated with alcohol metabolism or genetic testing to help evaluate this problem?
Answer:
Morozova and coauthors noted in their 2014 review that the primary pathway of ethanol metabolism is in the liver and involves conversion of ethanol to acetaldehyde by alcohol dehydrogenase (ADH). Acetaldehyde plays a major role in mediating aversive and rewarding effects of ethanol. Acetaldehyde is oxidized further to acetate by aldehyde dehydrogenase (ALDH). While there are 18 genes encoding members of the ALDH enzyme family, located on chromosome 4q, only ALDH2 plays a major role in oxidizing acetaldehyde in the liver.
The ALDH2*2 allele (Glu504Lys), which is also common in East Asia, is associated with aversive reactions to alcohol consumption, such as facial flushing, hypotension, headaches and nausea.
Morozova TV, Mackay TF, Anholt RR. Genetics and genomics of alcohol sensitivity. Mol Genet Genomics. 2014 Jun;289(3):253-69.
It is possible to determine ALDH2 function via acetaldehyde breath testing or by ethanol patch testing.
Aoyama I, Ohashi S, Amanuma Y, et al. Establishment of a Quick and Highly Accurate Breath Test for ALDH2 Genotyping. Clin Transl Gastroenterol. 2017 Jun 8;8(6):e96.
Matsuse H, Shimoda T, Fukushima C, et al. Screening for acetaldehyde dehydrogenase 2 genotype in alcohol-induced asthma by using the ethanol patch test. J Allergy Clin Immunol. 2001 Nov;108(5):715-9.
A number of firms sell over-the-counter genetic testing kits to screen for ALDH gene variants.
Eric Macy, MD, MS, FAAAAI