Alagille Syndrome
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Can atorvastatin treat persistent hyperlipidemia in patients with Alagille syndrome?

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In a recent case report, Nakajima H et al, discuss the potential use of atorvastatin in patients with Alagille syndrome (ALGS) with persistent hyperlipidemia due to its ability to upregulate bile acid synthesis and lipoprotein scavenging, as well as inhibit intrinsic cholesterol production.

A 4-month-old boy diagnosed with ALGS and refractory dyslipidemia due to cholestatic liver disease is presented in this case report. Since birth, the child had multiple episodes of cyanosis due to pulmonary artery atresia. At 3-months old, the child underwent a Blalock-Taussig shunt procedure. At 4-months old, the patient’s cholestatic hyperbilirubinemia deteriorated to a serum total bilirubin level of 19.9 mg/dL.

A laboratory test when the patient was 12-months old found severe dyslipidemia and the presence of xanthomas. Genetic testing identified a pathogenic variant of the JAG1 gene (c.1326G > A, p.Trp442X).

Oral ursodeoxycholate normalized hyperbilirubinemia and resulted in a subtle improvement in dyslipidemia, while a combination of pravastatin and fenofibrate did not improve dyslipidemia. When the patient was 20 months old, pravastatin was changed to atorvastatin, which effectively normalized normalizing serum cholesterol and serum triglycerides with no adverse events

The authors concluded that a “combination therapy with atorvastatin and fenofibrate was successful in improving refractory dyslipidemia in a child with [AGLS].

Nakajima H, Tsuma Y, Fukuhara S, et al. A Case of Infantile Alagille Syndrome With Severe Dyslipidemia: New Insight into Lipid Metabolism and Therapeutics. J Endocr Soc. 2022;6(3):bvac005. doi: 10.1210/jendso/bvac005. PMID: 35155971; PMCID: PMC8826833.

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