BACKGROUND: Familial hypercholesterolemia (FH) is a dominantly inherited condition that is due to a genetic defect in one of several genes that affect receptor-mediated uptake of low density lipoprotein (LDL). Affected individuals suffer metabolic and clinical features that include impaired uptake of plasma LDL cholesterol (LDL-C), resulting in high cholesterol levels and increased risk of premature cardiovascular disease. In order to prevent early onset cardiovascular disease, individuals diagnosed with this condition require aggressive treatment to lower LDL and cholesterol levels and despite their greatly elevated risk of coronary heart disease, most individuals with FH remain undiagnosed, untreated, or inadequately treated.
OBJECTIVES: Primary: To determine the prevalence of familial hypercholesterolemia in Filipino patients within a corporate wellness center based on the Dutch Lipid Network Criteria. Secondary: To describe the characteristics of patients with documented elevated LDL levels and to classify them as possible, probable and definite according to family history, clinical history, physical examination and LDL-C level.
DESIGN: Retrospective and Prospective Cross-Sectional Study
SETTING: Private Corporate Wellness Center which is a subsidiary clinic of Cardinal Santos Medical Center.
PARTICIPANTS: All unrelated patients of a private Corporate Wellness Center with LDL-C of > 190 mg/dL were included. Patients who were retired and deceased were excluded and those with secondary causes of dyslipidemia such as diabetes, nephrotic syndrome, chronic kidney disease, cirrhosis, hypothyroidism or dyslipidemia due to intake of corticosteroids or hormonal therapy were also excluded in the study.
METHODS: Electronic medical records of patients seen from December 1, 1991 to September 30, 2014 were reviewed. Out of 5,707 patients, only 1,106 were found with an LDL-C of >190 mg/dL. Of these, 496 were excluded because 482 were retired and 14 were deceased. Of the remaining 610, two were excluded due to presence of hypothyroidism and chronic kidney disease, for a total study population of 608. Baseline data demographics were tabulated and baseline characteristics were noted. Points were recorded using the Dutch Lipid Clinic Criteria separately and 40 patients were classified as possible, probable and definite heterozygous familial hypercholesterolemia.
STATISTICAL ANALYSIS: Descriptive analysis of the family history, clinical history, physical examination, sex and age were generated using means, standard deviations, frequency counts and percentages.
RESULTS: Prevalence of probable and definite FH among subjects with LDL-C >190 mg/dl was 8/608 (1.4%). Mean age on diagnosis was 44 years old, with male preponderance. Mean BMI was 24.5 (optimal weight). 7/8 (87.5%) had family history of dyslipidemia and the most common physical examination finding was arcus cornealis, found in 6/8 (75%). Ankle xanthoma was found in 2/8 (25%), elbow xanthoma in another 25%.