One of the interesting tools I’ve built into my blog is the ability to see the search terms people use to find it. Often, they’ve plugged in some burning question about HPS, and likely not found it easily on this blog. I have no idea who they are or how to reach them to give them the answer.
So, here are answers to some of the questions people seem to have. Please keep in mind I’m not a doctor. I’m just a person with HPS.
1. Who should be tested for HPS?
I know there will be many that won’t agree, but in my ideal world testing for HPS would be done as a screening for all children with albinism. HPS is very rare. Most children with albinism would test negative. But, for those that test positive, they’d have the advantage of knowing and being able to take precautions. I feel this way because I’ve heard and seen too many stories about people that didn’t know and ended up in scary situations as a result.
2. How does one test for HPS?
If you’re interested in testing, contact the HPS Network. Click on the banner above. The test is a blood test. Currently, we have not found all of the genes that cause HPS, and not all the gene types have a test commercially available. Thus, genetic testing could easily be inconclusive. Instead, the platelets are viewed under an electron microscope. If they lack delta dense bodies, and the patient has albinism, they have HPS. Think of it like this. Delta dense bodies are like chocolate chips in a cookie. If you don’t have HPS your blood platelet cells will look like chocolate chip cookies under the microscope. But, if you have HPS, they’ll look like butter cookies – no chips.
3. Does everyone with HPS get pulmonary fibrosis?
No. Currently we know of eight types of HPS. So far, it seems that types 1 and 4 do cause pulmonary fibrosis, but the age of onset of these symptoms varies widely.
4. Does everyone with HPS have a bleeding disorder?
Yes. Because the definition is a lack of dense bodies, people with HPS do have a bleeding disorder. The severity of this bleeding disorder can vary, however. That’s why so many of us never get a diagnosis until adulthood. Many people with HPS do bruise easily, so easy bruising is a sign. But, some of us bruise more easily than others. Some people with HPS have nosebleeds, and some women with HPS have very heavy and long female cycles. But, this isn’t true for everyone.
5. Does everyone with HPS have digestive problems?
No. Estimates seem to range from 15 to 30 percent of people with HPS have some sort of digestive problems that can range from a mild kind of irritable bowel syndrome, to problems that very much look like Crohn’s disease and can become quite severe.
6. I’ve been told I have OCA, OA etc. So, that means I don’t have HPS right?
Find out how your type of albinism was diagnosed. Very often doctors make a diagnosis about the type of albinism one has based on visual observation alone. This is essentially a guess and won’t rule out HPS. People with HPS can look as though they have all types of albinism. Some have very light hair and skin. Others appear to have ocular albinism and can even have dark skin and black hair. So, unless you’ve been gene tested and confirmed to have some other type of albinism, you can’t rule out HPS.
7. Is there a cure for HPS?
Not at this time.
8. Are there any treatments?
As with all other types of albinism, the use of sunscreen can help prevent skin cancer and the use of low vision aids can help with vision.
The bleeding issues of HPS can be treated in a variety of ways depending on the nature of the bleeding. Doctors, however, must be informed about HPS and how it works. Often doctors will perform PT or PTT tests. These tests will often come back normal for someone with HPS.
The digestive problems associated with HPS can frequently be treated with medications. The success of these treatments varies, however. Some people with HPS require more aggressive treatment than others.
While there is no cure for the pulmonary fibrosis of HPS, there is much research underway and several investigational drugs in the works. For some with severe lung disease, a lung transplant may be an option. It is important for people with HPS to avoid things that may pose a risk to their lungs and accelerate the course of the disease – things like smoking, industrial chemical fumes etc. People with HPS should be very vigilant when it comes to colds and respiratory infections.
9. HPS is a Puerto Rican disease right – I’m not Puerto Rican so I can’t have it.
No, while HPS is much more common in Puerto Rico, it occurs in all nationalities all over the world. We have HPS’ers from England, Ireland, Brazil, India, Pakistan, Israel, Germany, Belgium, the Netherlands, Singapore, China, Japan, Uruguay, Iran and pretty much any where else you can think of.
So, here are answers to some of the questions people seem to have. Please keep in mind I’m not a doctor. I’m just a person with HPS.
1. Who should be tested for HPS?
I know there will be many that won’t agree, but in my ideal world testing for HPS would be done as a screening for all children with albinism. HPS is very rare. Most children with albinism would test negative. But, for those that test positive, they’d have the advantage of knowing and being able to take precautions. I feel this way because I’ve heard and seen too many stories about people that didn’t know and ended up in scary situations as a result.
2. How does one test for HPS?
If you’re interested in testing, contact the HPS Network. Click on the banner above. The test is a blood test. Currently, we have not found all of the genes that cause HPS, and not all the gene types have a test commercially available. Thus, genetic testing could easily be inconclusive. Instead, the platelets are viewed under an electron microscope. If they lack delta dense bodies, and the patient has albinism, they have HPS. Think of it like this. Delta dense bodies are like chocolate chips in a cookie. If you don’t have HPS your blood platelet cells will look like chocolate chip cookies under the microscope. But, if you have HPS, they’ll look like butter cookies – no chips.
3. Does everyone with HPS get pulmonary fibrosis?
No. Currently we know of eight types of HPS. So far, it seems that types 1 and 4 do cause pulmonary fibrosis, but the age of onset of these symptoms varies widely.
4. Does everyone with HPS have a bleeding disorder?
Yes. Because the definition is a lack of dense bodies, people with HPS do have a bleeding disorder. The severity of this bleeding disorder can vary, however. That’s why so many of us never get a diagnosis until adulthood. Many people with HPS do bruise easily, so easy bruising is a sign. But, some of us bruise more easily than others. Some people with HPS have nosebleeds, and some women with HPS have very heavy and long female cycles. But, this isn’t true for everyone.
5. Does everyone with HPS have digestive problems?
No. Estimates seem to range from 15 to 30 percent of people with HPS have some sort of digestive problems that can range from a mild kind of irritable bowel syndrome, to problems that very much look like Crohn’s disease and can become quite severe.
6. I’ve been told I have OCA, OA etc. So, that means I don’t have HPS right?
Find out how your type of albinism was diagnosed. Very often doctors make a diagnosis about the type of albinism one has based on visual observation alone. This is essentially a guess and won’t rule out HPS. People with HPS can look as though they have all types of albinism. Some have very light hair and skin. Others appear to have ocular albinism and can even have dark skin and black hair. So, unless you’ve been gene tested and confirmed to have some other type of albinism, you can’t rule out HPS.
7. Is there a cure for HPS?
Not at this time.
8. Are there any treatments?
As with all other types of albinism, the use of sunscreen can help prevent skin cancer and the use of low vision aids can help with vision.
The bleeding issues of HPS can be treated in a variety of ways depending on the nature of the bleeding. Doctors, however, must be informed about HPS and how it works. Often doctors will perform PT or PTT tests. These tests will often come back normal for someone with HPS.
The digestive problems associated with HPS can frequently be treated with medications. The success of these treatments varies, however. Some people with HPS require more aggressive treatment than others.
While there is no cure for the pulmonary fibrosis of HPS, there is much research underway and several investigational drugs in the works. For some with severe lung disease, a lung transplant may be an option. It is important for people with HPS to avoid things that may pose a risk to their lungs and accelerate the course of the disease – things like smoking, industrial chemical fumes etc. People with HPS should be very vigilant when it comes to colds and respiratory infections.
9. HPS is a Puerto Rican disease right – I’m not Puerto Rican so I can’t have it.
No, while HPS is much more common in Puerto Rico, it occurs in all nationalities all over the world. We have HPS’ers from England, Ireland, Brazil, India, Pakistan, Israel, Germany, Belgium, the Netherlands, Singapore, China, Japan, Uruguay, Iran and pretty much any where else you can think of.
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