I was 38 years old when I found out that I have FHBL, after taking an out-of-pocket cholesterol gene panel from Invitae Genetic Testing. The test identified 2 heterozygous variants in APOB, 1 pathogenic/1 uncertain.
After graduating college in the early 2000’s and doctoring yearly, I was frustrated at the lack of concern/curiosity that my total cholesterol levels were quite low (45-75 mg/dL range) and my LDL usually around 20 mg/dL, and sometimes untraceable. My triglycerides were also consistently very low (low 20s). I think every general physician I’ve ever met with said it’s the lowest they’ve ever seen but none of them seemed concerned, and all legitimately don’t know if there is a need to be and don’t feel the need to follow up on anything. I don’t have negative symptoms that I am aware of, I eat sensibly, and rarely eat red meat any more. I usually complete 30+ minutes of some kind of daily exercise. I am consistently around 25lb overweight by BMI standards. There is almost nothing I can do to lose weight outside of dedicating a few hours a day to the gym. I have always had fasting blood glucose in the 100-120 range no matter what intake/activity levels are (though I have a strong male family history of Diabetes). I had a great-grandmother who lived to 107, and I have read there can be a link between FHBL and longevity so, sorry great-grandma but please don’t let that happen to me! Overall, I feel great! I’m just hoping to find some kind of intake and activity plan that can work with these variants to allow me to thrive at a more reasonable weight. And I will tell you that applying for life insurance is really fun when you have FHBL … they don’t know what to think of it either!