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by scellus 605 days ago
Although not probable in this case as far as I know: if vegetable oils seem to cause problems for you, you should be aware of sitosterolemia (phytosterolemia), caused by rare mutations in genes ABCG5 and ABCG8. It needs to be homozygous for symptoms.

(I have it, discovered by a full-genome sequencing by myself, accidentally around the age of 50.)

1 comments

wow, that's extremely useful and interesting! Can you say more about your condition? Did you have any symptoms? Which company did you use for the full-genome sequencing?

It looks like the treatment involves avoiding vegetable oils, but in her case there are no visible xanthomas.