For many people in the rare disease community, becoming a medical detective is a matter of necessity. You read everything you can get your hands on, then burn up the internet.

You also know that the more rare the disease, the harder it is to find creditable information–and Homozygous Familial Hypercholesterolemia, or HoFH, fits neatly into that category.

HoFH is an inherited disorder that causes cardiovascular disease as a result of abnormally high LDL cholesterol. Patients frequently have xanthomas, or yellow-colored fat deposits, under their skin, particularly in the eye area, and on the hands and ankles. Another visible symptom is a white crescent around the iris of a patient’s eye.

One of the challenges in treating HoFH is statins are highly ineffective, and must be used in conjunction with a low-fat eating plan, however, medications specific to HoFH are now on the market.

NORD Physician Guides provides excellent information, and as its name implies, it’s where the pros go find resources to read about research and treatment options, or to round out their knowledge base on HoFH and a host of other rare diseases.

For more information about HoFH, visit the National Institutes for Health.