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Effect of Lipoprotein(a) on the Diagnosis of Familial Hypercholesterolemia: Does It Make a Difference in the Clinic?

CLINICAL CHEMISTRY (2019)

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CLINICAL CHEMISTRY

卷 65, 期 10, 页码 1258-1266

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OXFORD UNIV PRESS INC

DOI: 10.1373/clinchem.2019.306738

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Medical Laboratory Technology

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Australian Government's Medical Research Future Fund

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BACKGROUND: Diagnostic tools for familial hypercholesterolemia (FH) rely on estimation of LDL cholesterol concentration. However, routine measurement or calculation of LDL cholesterol concentration using the Friedewald equation contains a cholesterol contribution from lipoprotein(a) [Lp(a)]. We investigated whether Lp(a) influences the phenotypic diagnosis of FH by commonly used clinical criteria. METHODS: A cohort of 907 adult index patients attending a clinic were studied. The Dutch Lipid Clinic Network (DLCN) and Simon Broome (SB) diagnostic criteria were estimated before and after adjusting LDL cholesterol concentration for the cholesterol content (30%) of Lp(a). Diagnostic reclassification rates and area under the ROC (AUROC) curves in predicting an FH mutation were also compared. RESULTS: Seventy-four patients defined by DLCN criteria (8.2%) and 207 patients defined by SB criteria (22.8%) were reclassified to unlikely FH after adjusting LDL cholesterol for Lp(a) cholesterol. The proportion of FH patients defined by DLCN (probable/definite) and SB (possible/definite) criteria decreased significantly in patients with increased Lp(a) (>0.5 g/L; n = 330) after Lp(a) cholesterol adjustment (P < 0.01). The overall reclassification rate was significantly higher in patients with Lp(a) concentration >1.0 g/L (P < 0.001). The AUROC curve for LDL cholesterol concentration >= 191 mg/dL (>= 5.0 mmol/L), DLCN criteria, and SB criteria in predicting an FH mutation increased significantly after adjustment (P < 0.001). There was no significant difference in AUROC curve before and after Lp(a) cholesterol adjustment at an LDL cholesterol concentration >= 251 mg/dL (>= 6.5 mmol/L). CONCLUSIONS: Adjusting LDL cholesterol concentration for Lp(a) cholesterol improves the diagnostic accuracy of DLCN and SB criteria, especially with Lp(a) >1.0 g/L and LDL cholesterol <251 mg/dL (<6.5 mmol/L). Lp(a) should be measured in all patients suspected of having FH. (C) 2019 American Association for Clinical Chemistry

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Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

Elena Olmastroni, Marta Gazzotti, Maurizio Averna, Marcello Arca, Patrizia Tarugi, Sebastiano Calandra, Stefano Bertolini, Alberico L. Catapano, Manuela Casula

Summary: This study aimed to determine the prevalence of LPA risk variants in adult individuals with familial hypercholesterolemia (FH) in Italy. The study found that a portion of FH patients had high lp(a) levels, which could not be explained by monogenic or polygenic causes. It suggests the importance of measuring lp(a) levels in diagnosing FH and excluding other factors that may contribute to the phenotype before performing genetic tests.

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