NORD publishes guide to promote physician awareness of rare metabolic disorder, homozygous familial hypercholesterolemia

The National Organization for Rare Disorders (NORD) has published a Physician Guide to Homozygous Familial Hypercholesterolemia (HoFH) to promote awareness of this rare inherited metabolic disorder among physicians and other medical professionals.

The guide is free and available to all at www.NORDPhysicianGuides.org, a website hosted by NORD to promote earlier diagnosis and treatment for patients with rare diseases. The guide can also be accessed from NORD's own website at www.rarediseases.org.

"We're pleased to announce this newest addition to our Physician Guide series," said NORD President and CEO Peter L. Saltonstall. "NORD began publishing the guides because it still takes far too long for people with rare diseases to obtain an accurate diagnosis."

Since NORD created the free physician guide website two years ago, the site has received approximately 25,000 visits from healthcare professionals in 162 countries.

NORD is publishing the guide just in time for FH Awareness Day, which takes place on Sept. 24th and focuses attention on this disorder, which can lead to premature and life-threatening cardiovascular disease.

The Physician Guide to HoFH was written by Dr. Dirk Blom, Head, Division of Lipidology, University of Cape Town, South Africa, a noted authority on the topic. It covers signs and symptoms, causes, diagnosis, treatment, investigational therapies, and clinical centers and medical experts. It also provides information about resources, such as the FH Foundation, for physicians to share with their patients.

With the help of the FH Foundation, a nonprofit organization representing patients and families affected by FH, NORD has also recently updated its Rare Disease Database report for patients on this topic.

FH (familial hypercholesterolemia) is an inherited condition that causes high levels of LDL or "bad" cholesterol from birth and heart attacks at an early age. HoFH is a rare type of FH in which the gene mutation is inherited from both parents. It is a more severe form of the disease, with heart attack and death often occurring before age 30.

As the primary nonprofit organization representing Americans with rare diseases, NORD established its Online Physician Guides website to promote awareness of rare diseases among pediatricians, family physicians, and other healthcare professionals. Each online guide is written by a medical expert on that topic.

Other recent guides in the series include ones on infantile spasms, Pompe disease, and Gaucher disease. The HoFH guide was made possible by an educational grant from Aegerion Pharmaceuticals. NORD and the author are solely responsible for the content.