In an age when big data can expand the reality of precision health, it helps if you have precise data. Those who study and treat the potentially-lethal genetic disorder familial hypercholesterolemia, or FH, have long been distressed by the lack of precision in an important data tool: the International Statistical Classification of Diseases and Related Health Problems, known as the ICD code.
The code, written by the World Health Organization but managed in the United States by the Centers for Disease Control and Prevention, had a classification for FH, but it was lumped in with other, non-genetic forms of high cholesterol. That categorization meant that FH, which is one of the most common genetic disorders and that carries a risk of early heart disease and heart attacks, was left without an important public health data tool, Cat Davis Ahmed, director of outreach for the FH Foundation, told me. Stanford cardiologist Josh Knowles, MD, PhD, the foundation’s chief medical adviser, also pointed out that the ICD had a code for death by airplane engine, but not for FH, a condition that the foundation estimates is likely to have been diagnosed in only one in 10 of those who have it.
Now, that FH coding imprecision has finally changed. After a presentation in 2014 to the CDC’s ICD Coordination and Maintenance Committee by Ahmed and Knowles, federal officials approved two new codes for FH in the 10th edition of the ICD. One code will cover the condition and the other will cover taking a family history of FH.
Having those codes sends an important message to patients, said Knowles: “We believe this will allow people with FH to get the care they need and deserve.” Data gathered by tracking the use of the more precise FH ICD codes will become part of the foundation’s own registry of FH patients and their families. And that, Ahmed said, “will give us the data we need to deepen our understanding of FH, to find people at high risk for early heart disease, and encourage optimal management and family screening while there is still time for prevention.”
The new ICD FH codes go into effect Oct. 1.
Previously: Familial hypercholesterolemia: A genetic disease in need of early testing, Cholesterol testing recommended for all, says Stanford cardiologist and Precision health in action - The hunt for families with a high-cholesterol disorder
Photo by jfcherry