FH Foundation: CDC approves diagnosis codes for Familial Hypercholesterolemia

Diagnosis codes will help identify population at high risk for early heart attacks, encourage optimal management and family screening while there is still time for prevention

News provided by

The FH Foundation

Jul 05, 2016, 01:20 ET

PASADENA, Calif., July 5, 2016 /PRNewswire-USNewswire/ -- The FH Foundation announced today that two distinct ICD-10 Codes for Familial Hypercholesterolemia (FH) were approved by the ICD-10 Coordination and Maintenance Committee of the Center for Medicare and Medicaid Services (CMS) and the Centers for Disease Control and Prevention's (CDC) National Center for Health Statistics (NCHS).

ICD-10 codes for familial hypercholesterolemia are approved!

Although FH is one of the most common life-threatening genetic conditions affecting all races and ethnicities, until now there has been no specific diagnosis code to differentiate FH from other forms of high cholesterol. In response to the FH Foundation's 2014 application, two International Classification of Diseases (ICD) 10 codes have now been approved for Familial Hypercholesterolemia (E78.01) and Family History of FH (Z83.42). The FH ICD-10 codes will go into effect on October 1, 2016.

Recent studies confirm that individuals with FH are at much higher risk for developing early heart disease, even compared to those who have the same high cholesterol levels but do not have the genetic condition[1]. Unfortunately, data from the FH Foundation's CASCADE FH™ Registry shows that FH diagnosis and adequate treatment still occur too late and individuals with FH have 5-7 times higher prevalence of Coronary Heart Disease (CHD) than the age matched population[2].

"Hopefully this will send a clear message to the medical community that familial hypercholesterolemia is different. Those of us with FH need to be treated as the high-risk population that we are." – Katherine Wilemon, Founder and CEO, FH Foundation

A common cause of early heart disease and heart attacks, Familial Hypercholesterolemia (FH) is a life-threatening, genetic condition impacting approximately 1 in 250 individuals worldwide. Those born with FH are at significant risk of developing premature CHD due to the lifelong exposure to significantly elevated low-density lipoprotein cholesterol (LDL-C) levels. Although there are effective interventions available to manage FH and prevent CHD, FH remains undifferentiated, under-diagnosed and undertreated. In the United States, over 90% of those who have this genetic disorder remain undiagnosed.

"We are delighted at the increased recognition a distinct ICD-10 code will bring to FH. We believe that this will allow individuals with FH to get the care they need and deserve." – Joshua W. Knowles, MD, PhD, Assistant Professor of Medicine at Stanford University School of Medicine and Chief Medical Advisor to the FH Foundation

The FH Foundation is a 501(c)(3), patient-centered research and advocacy organization dedicated to increasing the rate of early diagnosis, encouraging proactive treatment, and improving the quality of life of all those impacted by all forms of familial hypercholesterolemia.

[1] Khera AV, Won HH, Peloso GM, Lawson KS, et al. Diagnostic yield of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J Am Coll Cardiol. 2016;67:2578-2589. doi: 10.1016/j.jacc.2016.03.520.

[2] deGoma EM, Ahmad ZS, O'Brien EC, et al. Treatment gaps in adults with heterozygous familial hypercholesterolemia in the United States: data from the CASCADE-FH Registry. Circ Cardiovasc Genet. doi: 10.1161/CIRCGENETICS.116.001381

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SOURCE The FH Foundation