# Maralixibat for the treatment of severe xanthomas in two children with Alagille syndrome: Case reports

## TL;DR

Maralixibat effectively reduced severe xanthomas and itching in two children with Alagille syndrome, including a first reported case of airway xanthomas.

## Contribution

First case report of airway xanthomatosis in Alagille syndrome and successful treatment with maralixibat.

## Key findings

- Maralixibat led to almost complete resolution of severe xanthomas in two ALGS patients.
- Significant improvements in cholestatic pruritus and serum bile acid levels were observed.
- This is the first documented case of airway xanthomas in Alagille syndrome.

## Abstract

Alagille syndrome (ALGS) is a rare, autosomal dominant disorder which presents with a broad range of clinical manifestations, including cholestatic pruritus. A unique manifestation of ALGS is the presence of xanthomas in 24%–42% of patients, which can lead to liver transplantation. Maralixibat, an ileal bile acid transporter (IBAT) inhibitor, has demonstrated improvements in both cholestatic pruritus and xanthomas in clinical trials. We report here on the use of maralixibat in two patients with ALGS and unusual manifestations of xanthomatosis, including one patient with airway xanthomas and a second patient with severe, diffuse xanthomas. In both cases, almost complete resolution of severe, debilitating xanthomas and clinically meaningful improvements in pruritus and serum bile acid levels were observed after up to 1 year of treatment with maralixibat. These cases support the utilization of maralixibat for the management of ALGS beyond cholestatic pruritus.

Maralixibat is approved by the US Food and Drug Administration for treatment of cholestatic pruritus in patients with Alagille syndrome (ALGS) ≥ 3 months of age in the United States and ≥2 months of age in the European Union.In a clinical trial with maralixibat in patients with ALGS, significant improvements in pruritus and xanthomas were observed.

Maralixibat is approved by the US Food and Drug Administration for treatment of cholestatic pruritus in patients with Alagille syndrome (ALGS) ≥ 3 months of age in the United States and ≥2 months of age in the European Union.

In a clinical trial with maralixibat in patients with ALGS, significant improvements in pruritus and xanthomas were observed.

These cases demonstrate unusual presentations of xanthomatosis in two patients with ALGS.This is the first case report demonstrating airway xanthomatosis in ALGS.Improvements in severe xanthomas and cholestatic pruritus were observed in patients with ALGS with maralixibat treatment.

These cases demonstrate unusual presentations of xanthomatosis in two patients with ALGS.

This is the first case report demonstrating airway xanthomatosis in ALGS.

Improvements in severe xanthomas and cholestatic pruritus were observed in patients with ALGS with maralixibat treatment.