The Long Journey to HoFH
Well, it has been a long journey, of about 36 years, to diagnose me with the correct kind of FH. 36 years. I have thought that I have known everything there is to know about this disease, and definitely everything there is to know about my disease. But as so many times before – there is still so much more to find out. As I have said before, it boggles my mind how misdiagnosed or undiagnosed FH is when it is so easy to test for it. I knew I had FH at the age of 8, which is relatively early, so I have always considered myself one of the lucky ones: I have known to keep an eye on my numbers, on what is new in medicine and on all the other diseases that are triggered by it. But there was at least one more ‘x’ in the equation which was not solved till last week: I have, in fact, Homozygous Familial Hypercholesterolemia (or HoFH: https://thefhfoundation.org/about-fh/homozygous-familial-hypercholesterolemia – this link will explain what it is and why it is different than the other type of FH, the Heterozygous kind, or HeFH). Over the years, there have been guesses. About 50% of my doctors have told me that I might be HoFH, and yet another 50% were sure I was HeFH. The difference in their opinion was usually explained like this: because my levels were very high when unmedicated (730mg/dl when I was a kid, 520-600 mg/dl as a young adult), some doctors were sure I am HoFH. They generally believe that HeFH levels don’t usually go above 400mg/dl. For the other group of medics who believed I am HeFH, the reason for their picking that form of FH instead was that I was responding somewhat to medication. Some people believe that HoFH patients don’t respond as well, or at all to medication. Although my cholesterol has yet to be truly “normal” (the LDL was still 150 mg/dl last time we checked) now that I take several medications (http://livingwithfh.blogspot.com/2016/07/my-current-drug-regimen-and-diet.html), it has gotten down a lot over the years. I also have never done apheresis. For this reason, some doctors believed I had the HeFH form of FH. Why is it important to find out?! Because it can make a difference in your treatment. There are medications that are approved only for HoFH patients that I have never been exposed to, nor talked about to, because there was no clear evidence that is my kind of FH. I have known for a while that the only positive way to know the kind of FH you have is by ordering a genetic test. This is not as routine as your cholesterol check, as you can imagine. You would have to work with your cardiologist or lipidologist and they usually work with a genetic lab that can perform the test. I looked into it with my own cardiologist (who is also a lipidologist) and he referred me to this genetic lab for the test. So, for my unsatisfied curiosity, and possibly for a more accurate treatment, I researched the options I had for a genetic test with him and the lab. And, last week I got my result and at the top of the page it’s clear as day: “The individual is homozygous for the p.A540T likely pathogenic variant in the LDLR gene.” Apparently, I got this particular gene from both my parents, as I have 2 identical ones (as I understand it) that are ‘sick’: p.A540T. The results go into more details about which exon of the gene is affected and which nucleotide position, as well as what other names this mutation is known by. If this all sounds like Greek to you, know that it does to me, too. I am taking baby steps to figure out what it all means, exactly. You can then take all this information to Google and find out more about the research done on your specific mutation. The process to being here today, with the diagnosis in hand, was a bit lengthy for an impatient human like me, but … I would recommend it to anyone that has access to it, as it can be well worth it for the accuracy of your treatment. It started, like I said, with me bringing it up to my cardiologist. He was in the HoFH camp, and he agreed that he would be curious to know for sure, too. Doctors don’t typically recommend the genetic test, I believe, because this test is mostly not covered by insurances and it is not cheap. So, they don’t bring it up with patients because they know people won’t most likely pay for it. The doctor called the genetic testing company, and I got a phone call from them after about a week from my phone call to the doctor, to confirm my address. After about another week, they sent me a package with a couple of things inside:
- A test tube where my sample of saliva would go
- Instructions about how to safely obtain a sample
- A FedEx self-addressed envelope to return the sample to them
- A form where I specified what gene I want them to test (I wrote in “familial hypercholesterolemia” – I am always sure not many people even in the medical field know or refer to it as “FH”), some other personal information, and my health insurance information.
- National Society of Genetic Counselors (www.nsgc.org)
- Canadian Association of Genetic Counselors (www.cagc-accg.ca)
- The FH Foundation (www.thefhfoundation.org)
- Genetic Information Nondiscrimination Act (GINA) (www.ginahelp.org)
To view original post visit: http://livingwithfh.blogspot.com/2017/08/the-long-journey-to-hofh.html
Blog Post by A.W. About this Blog
In this blog I will follow my everyday journey of living with familial hypercholesterolemia (or FH). I am sharing my own experience with this inherited disorder, and how I manage it daily – from what literature I read on the topic and what my doctors say to how I live my life (what I eat, what medicine I take, how I exercise, etc). This is solely a personal account that might or might not offer some insight on what to expect when diagnosed with this condition. This blog does not offer advice, in any way, to anyone suffering from this disease.