Researchers presented the case of a patient with Alagille syndrome (ALGS) and refractory dyslipidemia due to cholestatic liver disease, as published in the Journal of the Endocrine Society.

Based on this case, the researchers proposed atorvastatin as a potential treatment for persistent hyperlipidemia in a patient with ALGS due to the fact that it upregulates bile acid synthesis and lipoprotein scavenging and inhibits intrinsic cholesterol production.

The patient presented in the present study had repeated episodes of cyanosis because of pulmonary artery atresia since birth. He was treated with a Blalock–Taussig shunt procedure at the age of 3 months. But at the age of 4 months, his cholestatic hyperbilirubinemia got worse and the total bilirubin level in his serum reached 19.9 mg/dL. 


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At 12 months of age, he was diagnosed with severe dyslipidemia; his total cholesterol level was 1796 mg/dL while his serum triglyceride concentration was 635 mg/dL. He also had xanthomas. His condition was caused by a c.1326G>A mutation causing p.Trp442X in the JAG1 gene.

The patient was treated with oral ursodeoxycholate, which normalized his hyperbilirubinemia and slightly improved his dyslipidemia. Combination therapy with pravastatin and fenofibrate was also tried but this approach failed to improve his dyslipidemia. 

Pravastatin was then substituted with atorvastatin when the patient was 20 months old. This normalized serum cholesterol and triglyceride levels with no adverse effects. Atorvastatin is a strong statin that can lower serum cholesterol levels, and fenofibrate is a medication of the fibrate class which is used to treat abnormal levels of lipids in the blood.

The researchers concluded that combination therapy with atorvastatin and fenofibrate can improve refractory dyslipidemia in patients with ALGS.

Reference

Nakajima H, Tsuma Y, Fukuhara S, Kodo K. A case of infantile Alagille syndrome with severe dyslipidemia: a new insight into lipid metabolism and therapeutics. J Endocr Soc. Published online January 18, 2022. doi:10.1210/jendso/bvac005.