One patient with SLD and increased LDL levels (213 mg/dL), a 49‐year‐old man (#9), with a positive family history for hypercholesterolemia, harboured a heterozygous pathogenic variant (NM_000527: p.T434M) in LDLR gene, accounting for a genetic diagnosis of heterozygous familial hypercholesterolemia [34, 35]. The gene discussed is LDLR; the disease is Hypercholesterolemia.