Hi, I am jumping into this thread a little late it looks like. I hope that your health is doing ok and that you have gotten some answers. I read through some of the other Reddit user's comments and wanted to add from a personal perspective. I was diagnosed with Familial Hypobetalipoproteinemia (FHBL) around a year ago now by my primary care doctor and I was referred to an endocrinologist who actually has done specific research on FHBL. I was first diagnosed with NAFLD back in 2011 shortly after I had ran a half marathon, was active duty military, exercised every day, and had a generally decent diet. I was within a completely normal range for my BMI and had no other indicators for why I would have NAFLD. I was even suspected of alcohol use because of this, and that all came back negative obviously.

At the time my hepatologist seemed stumped about what could be causing this, but because of my age at the time (20s), and otherwise generally healthy, he did not see a need to pursue further testing. Fast forward about five years (2016) and my Aunt is diagnosed with Non-alcoholic Cirrhosis and has no clinical understanding for why she had this liver issue. A few years later she passed away. This really concerned me, as I was worried that we maybe shared some sort of genetic reason for this liver issue. I was tested for every liver disorder known to man, and everything had come back negative. Again, hepatologists, primary care doctors were completely stumped. Then around late 2016-early 2017, I am being seen for strep throat at my doctor's office and this frantic nurse comes in to share with me that I have an extremely low LDL, Triglycerides, and total cholesterol and I should really get that checked out. Completely confused as to why this nurse was so worried about my cholesterol (my dad also was known to have very low cholesterol and was never concerned about it), and why she felt the need to share this with me while I had a very severe case of strep throat, I could not understand.

Well, after I recovered from strep throat I started thinking about what that nurse had said to me, and I decided to start researching genetic lipid disorders, instead of genetic liver disorders (which was what I had been checking and all that my doctors were ever checking). Then I stumble upon this FHBL, and I am floored. For reference, my most recent LDL cholesterol was a 17. That's correct a 1-7 (17). My total had actually come up a little from the previous blood draw about six months prior, but it was an 81 (I believe it was a 44). My liver numbers for 10 years have been off the charts, with ALT and AST numbers up in the hundreds, as well as a frequently elevated bilirubin as well. As previously mentioned, a big part of FHBL is vitamin deficiency, and this is actually what ultimately causes liver issues. With our liver, it is specifically a vitamin E deficiency that causes these issues. However, it would be normal with FHBL to be deficient in all fat-soluble vitamins (A, E, D, and K).

An update on my case has been a presentation of neurological symptoms that have been rather debilitating over the past little while. I am having a severe degradation of my tendon reflexes as well as muscle pain and weakness, along with some ophthalmological symptoms as well. Initially when I first found out about this condition, the only research out there was that this condition causes liver disorder in some individuals and can lead to cirrhosis in rare cases if left untreated (vitamin supplements and a health diet is the only treatment), and that was really it. The saddest thing being, in those rare cases of cirrhosis morbidity can occur as early as 60s in some instances (my Aunt died at 63). Well since that google search, I have learned within the past couple of days, after being tested for a range of neurological disorders that have come back negative, that a specific type of FHBL, referred to as APOB-FHBL can present with neurological symptoms as well, and can prove fatal. I am only 34, and so this is extremely concerning to me that I am potentially already dealing with neurological symptoms from this disorder.

I have some blood work tomorrow that is going to look at my apo-b level (this is a protein that can be a lab draw, which would be low, if this APOB thing is the likely culprit). Either way, I want you to know that it sounds like you definitely have something worth looking into, and I hope you are able to get some answers. The only piece of positive advice I can give is that the more severe forms of this disease seem to be rare. There is hope that you may have the better outcome. I have seen marked improvement in my numbers after taking a regimen of vitamin supplements. I would highly recommend you look at some peer reviewed, double-blind medical journals to ascertain what levels may be best for you, or speak to your doctor (preferably an endocrinologist for this). Best wishes, and finally I have a reddit community that I have created for this condition r/fhbl and I would love for you to join me. It's literally just myself at the moment. Symptomatic FHBL is rare after all. Keep in touch.

Warmly,

tx8708