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January 1, 2024Revista Médicas UISOpen Access

Familial hypercholesterolemia due to an heterozygous LDLR promoter mutation: a case report

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Population

Two cases with heterozygous mutation in the LDLR promoter c.-135C>G

Design

Case report

Key result

Dual lipid-lowering therapy achieved a significant reduction in cholesterol levels in two patients with a heterozygous LDLR promoter mutation who had failed lovastatin monotherapy.

Authors

LFLorena Figueroa-BuitragoJDJorge A Díaz-GiraldoWSWilmar Saldarriaga

Discussion

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Overview

Hypothesis-generating for dual therapy in LDLR promoter mutations; prospective trials needed before practice change.

Study Design

Type

Case Report (n=2)

Structured PICO

P
Population
Two female patients (a mother and daughter) with familial hypercholesterolemia due to a heterozygous LDLR promoter mutation.
E
Exposure
Dual lipid-lowering therapy (alirocumab + rosuvastatin in case 1; atorvastatin + ezetimibe in case 2)
C
Comparator
Lovastatin monotherapy (prior therapy resulting in therapeutic failure)
O
Outcome
Reduction in cholesterol levelssurrogate

Dual lipid-lowering therapy successfully reduced cholesterol levels in two patients with familial hypercholesterolemia due to a heterozygous LDLR promoter mutation who had previously failed lovastatin monotherapy.

Cite This Study

Figueroa-Buitrago et al. (2024) conducted a case report in Familial hypercholesterolemia (n=2). Dual lipid-lowering therapy (alirocumab+rosuvastatin or atorvastatin+ezetimibe) vs. Lovastatin monotherapy was evaluated on Reduction in cholesterol levels. Dual lipid-lowering therapy achieved a significant reduction in cholesterol levels in two patients with a heterozygous LDLR promoter mutation who had failed lovastatin monotherapy.

synapsesocial.com/papers/6a69e67cc709c350d6e8688dhttps://doi.org/10.18273/revmed.v37n3-2024007
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