Treatment for HoFH Can Help Patients Live Longer, Healthier Lives

I just had my yearly physical and something weird (for me) popped up in the blood tests. My cholesterol level was up. Not through the roof, but enough to raise a red flag. Also, my blood pressure was higher than normal. So, tonight, when I get home, I’m going to fire up the treadmill and start walking for 30 minutes a night. I’m also going to stick with lean proteins, leafy greens, etc. Chances are, my cholesterol will come down. I’ll have it re-checked in three months (and I’ll let you know how it goes).

If I had a condition called homozygous familial hypercholesterolemia (HoFH) none of what I just described would help me get the bad number down and the good number up.

HoFH is an inherited disorder that prevents the body from breaking down lipids. Beginning in early childhood, fatty deposits begin building up in the person’s organs, arteries, and blood. If left untreated, the person is at an acutely elevated risk for early-onset coronary artery disease.

A visible symptom of the disease is called a xanthoma. Fatty deposits under the skin clump together and show up as yellow-ish bumps. Another visible symptom is the appearance of a corneal arcus. This is a greyish-white ring of cholesterol surrounding the iris of the eye.

The good news is over the past few decades, treatments for HoFH have greatly improved. So if you, or a loved one is affected by HoFH, talk to your doctor about your options.

Early treatment is critical to avoiding the devastating effects of HoFH. Luckily the FH Foundation is available to help by providing information, insight, and support.

Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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