June 21, 2011
By Donna Peck
|Patrick Moriarty, MD|
It is one of the most common genetic disorders, but many people don't know they have it until they suffer a stroke or heart attack at a younger age than normal.
Familial hyper-cholesterolemia (FH) is an inherited form of high low-density lipoprotein (LDL) cholesterol. Because it can lead to early heart attack and death, the National Lipid Association is now recommending cholesterol testing at the age of two for toddlers with a family history of early heart disease. The organization is also recommending that all children be tested by the age of eleven.
The co-author of the new recommendations is Patrick M. Moriarty, MD, a professor of medicine at the University of Kansas Medical Center and director of the medical center's Atherosclerosis and LDL-Apheresis Center. Moriarty says FH affects more than 600,000 Americans, but it often goes undiagnosed.
"FH is more prevalent than cystic fibrosis, Down's syndrome and type 1 diabetes, but it remains under-diagnosed and under-treated," Moriarty says. "Statistics indicate that only about 20 percent of patients with FH are properly diagnosed and of that 20 percent, fewer than half are receiving appropriate treatment."
Moriarty says diagnosis at an early age is critical because early changes in diet and eating habits can help reduce the impact of FH later in life. He says treatment is more effective when started early, before cholesterol deposits in blood vessels become too advanced.
FH can often be successfully treated with statins, a class of drugs used to lower cholesterol levels by inhibiting the enzyme HMG-CoA reductase. With more serious cases, patients can undergo LDL apheresis, which filters LDL from the bloodstream in a process reminiscent of dialysis. The process can reduce cholesterol levels by 80 percent in just three hours. KU Medical Center has the largest LDL-apheresis center in North and South America.
"Although FH is a life-threatening condition, it is treatable," Moriarty says. "Our hope is that if we can get these new screening recommendations to at-risk families, it will make a real difference in helping FH patients get the early intervention they need."