Recognition and Treatment of Homozygous Familial Hypercholesterolemia by Primary Care Physicians: a Survey from the Nati
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Massachusetts General Hospital, Boston, MA, USA; 2Washington University School of Medicine, St. Louis, MO, USA; 3University of Amsterdam, Amsterdam, NL, USA; 4St. Louis University, St. Louis, MO, USA; 5Thomas Jefferson University Hospital, Philadelphia, PA, USA.
J Gen Intern Med DOI: 10.1007/s11606-019-05620-4 © The Author(s) 2019
INTRODUCTION
Homozygous familial hypercholesterolemia (HoFH) is an inherited disorder caused most commonly by mutations in the low-density lipoprotein (LDL) receptor gene. The very high levels of LDL-cholesterol from birth lead to early and widespread atherosclerosis, and guidelines recommend early and intensive lowering of LDL-cholesterol.1 The prevalence of HoFH in the general population is more common than previously estimated, with about 1 in 160,000 to 300,000 having HoFH. The National Lipid Association conducted a survey to evaluate how primary care and other clinicians diagnose and manage patients with HoFH. We focused on clinicians in primary care and general medicine since they are usually the first in the healthcare community to see these patients.
METHODS
A total of 504 clinicians completed the survey across the USA from June to July 2018. The respondents had to be currently treating patients with elevated LDL-cholesterol and licensed to prescribe medications. Eligible medical disciplines included physicians, nurse practitioners, and physician assistants. Eligible specialty groups included family practice, general internal medicine, and cardiology.
RESULTS
Of those who completed the survey, 85% were physicians, 99% were in primary care or general internal medicine, and 63% had access to a lipid specialist which varied by their location (36% urban, 30% suburban, and 13% rural). The Received October 11, 2019 Revised October 24, 2019 Accepted December 12, 2019
answers to the survey questions are provided in Table 1 and Figure 1.
DISCUSSION
Although most of our survey respondents manage patients with LDL-cholesterol levels diagnostic of HoFH, less than half did not recognize the diagnosis of HoFH in their patients and had difficulty in distinguishing HoFH from heterozygous familial hypercholesterolemia. This distinction is critical since patients with HoFH are at much higher risk of early and aggressive cardiovascular disease and warrant more intensive therapies. Historically, HoFH was diagnosed at LDLcholesterol levels > 500 mg/dL; however, almost half of genetically proven homozygotes have untreated LDL-C levels < 500 mg/dL.2 These findings do not appear to have made it into general practice. When assessing cardiovascular risk in a patient with HoFH, most clinicians would use a risk calculator. It is important to note that past and current cholesterol guidelines do not recommend using risk calculators in patients with HoFH and recommend treatment with high-intensity statins as soon as the clinical diagnosis is made.1 Most clinicians in our survey would prescribe high-intensity statins to treat HoFH patients. However, diet and exercise were chosen by many respondents as
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