HPS is a type of albinism. In other words, not everyone with albinism is at risk for HPS. Albinism is sort of an umbrella word for a big collection of genes that can cause albinism. OCA1, OCAIA, OCAIB, OCA2, OCA3, OCA4 etc. HPS 1, or 2, or 3 and so on, are just other genes that cause albinism. It's a matter of having the gene or not. It isn't something that someone with another type of albinism could develop later. It's something people with albinism should be tested for because typically people don't know what gene causes their albinism.
Everyone with HPS type 1 and 4 develops pulmonary fibrosis - not just most as I stated incorrectly in my video. It is not understood yet as to why one person in their 20s gets pulmonary fibrosis, and another doesn't show signs until their 70s, or why the average is 30s. But, there are some trigger going on. Staying away from toxins such as cigarette smoke and keeping on top of colds etc. can make a difference.
Everyone with HPS has a bleeding disorder. One may not have the GI issue, or have lung issues, but everyone has the bleeding disorder. Because some of us are worse bleeders than others, some people think that if they haven't ever had a bad bleed, they're mild and don't need to be concerned. This is not the case.
This holds true for me. Although I do not show any of the symptoms for bleeding I am extra careful during my pregnancy and am seeing a high risk ObGyn.
for more information contact the
Hermansky-Pudlak Syndrome Network
1 (800) 789-9HPS
www.hermansky-pudlak.org
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