Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? Joana Rita Chora, MSc, Ana Catarina Alves, PhD, Ana.

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Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? Joana Rita Chora, MSc, Ana Catarina Alves, PhD, Ana Margarida Medeiros, MSc, Cibelle Mariano, MSc, Goreti Lobarinhas, MD, PhD, António Guerra, MD, PhD, Helena Mansilha, MD, PhD, Helena Cortez-Pinto, MD, PhD, Mafalda Bourbon, PhD Journal of Clinical Lipidology Volume 11, Issue 2, Pages 477-484.e2 (March 2017) DOI: 10.1016/j.jacl.2016.11.002 Copyright © 2017 National Lipid Association Terms and Conditions

Figure 1 Pedigrees of families (A, B and C) of the 3 index cases with c.894G>A. Filled boxes, homozygotes; dotted boxes, heterozygote carriers; open boxes, not tested; N, negative for family mutation. Index cases are signaled with an arrow. Below the symbols are indicated: generation number, age (years), TC, total cholesterol (mg/dL); LDL-C, low-density lipoprotein cholesterol (mg/dL); HDL-C, high-density lipoprotein cholesterol (mg/dL); TG, triglycerides (mg/dL); AST, aspartate transaminase (U/L); ALT, alanine transaminase (U/L); LAL, lysosomal acid lipase activity (nmol/punch/h). †, cause (when available) and age of death. Journal of Clinical Lipidology 2017 11, 477-484.e2DOI: (10.1016/j.jacl.2016.11.002) Copyright © 2017 National Lipid Association Terms and Conditions

Figure S1 Diagram of clinical criteria distribution in the e_COR sample (n = 258) revealing the complex phenotype of these individuals. FH, familial hypercholesterolemia (n = 24); FCHL, familial combined hyperlipidemia (n = 34); LALD, clinical suspicion of lysosomal acid lipase deficiency (n = 16); steatosis (n = 231). Journal of Clinical Lipidology 2017 11, 477-484.e2DOI: (10.1016/j.jacl.2016.11.002) Copyright © 2017 National Lipid Association Terms and Conditions