Once every month or two I do a pretty exhaustive hunt for any papers published anywhere in the world on Hermansky-Pudlak Syndrome. Often I don’t understand them, but we as the Network try to track these things. We want to know who is researching what, and we try to keep a database going.
Mostly the research is science that at best is over my head and requires me to do a lot of looking things up and studying to even understand. I look forward to my visits to the NIH so I can sit down with someone like Dr. Markello and get a science lesson!
On my most recent search, however, I found a few interesting tidbits – well, interesting to me as an HPS’er, but not necessarily huge medical breakthroughs from a scientific point of view. They are rather perhaps the sorts of things we should be aware of as advocates in our outreach work.
1. We do have some African-Americans with an HPS diagnosis but they are very few. This is perhaps more to do with a lack of outreach among African-Americans with albinism than it is lack of occurrence. In fact, in my outreach work I’ve run into the incorrect myth that African –Americans with albinism don’t carry any of the HPS genes. That is, in fact, not true. NIH just published a case study of two African-American brothers with HPS. I don’t know them personally, but I bring it up because it’s solid medical documentation. It does happen and it’s just as important for the African-American community to be aware of HPS as any other.
2. HPS occurs at a greater rate of frequency among people with albinism from Japan or a Japanese background. It isn’t at as high a rate as in Puerto Rico, but it is far above the average. So far all of the known cases of HPS in people of Japanese background have been HPS type 1. It stands to reason that people with HPS with Japanese heritage would be at the same risk for the bowel disease associated with the syndrome, but I’d never seen it documented in the medical literature. (Maybe I’ve missed it since I don’t read Japanese.) This month there’s a case report out of Japan about a 30-year-old man who developed the Crohn’s-like issues of HPS. He’s been successfully treated with Remicade. (A few months ago there was another such case report from Italy and Remicade was used.) So, this isn’t exactly big news – but just a little back-up for a point we’re already trying to make. (If you’re a newbie to HPSland with the digestive issues, please consult with your doc before jumping to Remicade. It’s a heavy-duty drug, and depending on the severity of your disease, there are other things that can be tried first.)
3. There is also a new paper out from NIH about HPS in people of Indian (from India, not Native Americans) decent. According to this paper the NIH went on record saying they believe HPS may be very under diagnosed in this ethnic group. So far there is not enough data to support coming out and saying there’s another genetic isolate in India – but from the Network’s standpoint I think we’re up to nine people of Indian background – and I’m aware of three others mentioned in the literature. (Not counting other cases from the region such as places like Sri-Lanka and Pakistan.) When you consider we’re talking about a region with a billion plus people, this isn’t exactly staggering. Still, it is documented that albinism occurs in greater frequency in India than in some other places in the world – and these are all cases of people who were diagnosed here. In fact, most of the Indian HPS’ers on our registry are children adopted from India. We could be just touching the edge of something. It’s also worth noting that so far those who have been able to be type tested from India have all been type 1 or type 4. (This does not mean that there aren’t other types in India – only that these are the cases that have come to our attention and have been able to be type tested, which isn’t easy.)
The overall big take-away here isn’t news – it’s just reinforcement. While HPS may be more common in people from Puerto Rico, it DEFINITELY isn’t exclusively a Puerto Rican disorder. Everyone in the albinism community needs to be educated about HPS.
Mostly the research is science that at best is over my head and requires me to do a lot of looking things up and studying to even understand. I look forward to my visits to the NIH so I can sit down with someone like Dr. Markello and get a science lesson!
On my most recent search, however, I found a few interesting tidbits – well, interesting to me as an HPS’er, but not necessarily huge medical breakthroughs from a scientific point of view. They are rather perhaps the sorts of things we should be aware of as advocates in our outreach work.
1. We do have some African-Americans with an HPS diagnosis but they are very few. This is perhaps more to do with a lack of outreach among African-Americans with albinism than it is lack of occurrence. In fact, in my outreach work I’ve run into the incorrect myth that African –Americans with albinism don’t carry any of the HPS genes. That is, in fact, not true. NIH just published a case study of two African-American brothers with HPS. I don’t know them personally, but I bring it up because it’s solid medical documentation. It does happen and it’s just as important for the African-American community to be aware of HPS as any other.
2. HPS occurs at a greater rate of frequency among people with albinism from Japan or a Japanese background. It isn’t at as high a rate as in Puerto Rico, but it is far above the average. So far all of the known cases of HPS in people of Japanese background have been HPS type 1. It stands to reason that people with HPS with Japanese heritage would be at the same risk for the bowel disease associated with the syndrome, but I’d never seen it documented in the medical literature. (Maybe I’ve missed it since I don’t read Japanese.) This month there’s a case report out of Japan about a 30-year-old man who developed the Crohn’s-like issues of HPS. He’s been successfully treated with Remicade. (A few months ago there was another such case report from Italy and Remicade was used.) So, this isn’t exactly big news – but just a little back-up for a point we’re already trying to make. (If you’re a newbie to HPSland with the digestive issues, please consult with your doc before jumping to Remicade. It’s a heavy-duty drug, and depending on the severity of your disease, there are other things that can be tried first.)
3. There is also a new paper out from NIH about HPS in people of Indian (from India, not Native Americans) decent. According to this paper the NIH went on record saying they believe HPS may be very under diagnosed in this ethnic group. So far there is not enough data to support coming out and saying there’s another genetic isolate in India – but from the Network’s standpoint I think we’re up to nine people of Indian background – and I’m aware of three others mentioned in the literature. (Not counting other cases from the region such as places like Sri-Lanka and Pakistan.) When you consider we’re talking about a region with a billion plus people, this isn’t exactly staggering. Still, it is documented that albinism occurs in greater frequency in India than in some other places in the world – and these are all cases of people who were diagnosed here. In fact, most of the Indian HPS’ers on our registry are children adopted from India. We could be just touching the edge of something. It’s also worth noting that so far those who have been able to be type tested from India have all been type 1 or type 4. (This does not mean that there aren’t other types in India – only that these are the cases that have come to our attention and have been able to be type tested, which isn’t easy.)
The overall big take-away here isn’t news – it’s just reinforcement. While HPS may be more common in people from Puerto Rico, it DEFINITELY isn’t exclusively a Puerto Rican disorder. Everyone in the albinism community needs to be educated about HPS.
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