G Bora et al. JPGN Reports. 2026;7:1–5. Open Access! Maralixibat for the treatment of severe xanthomas in two children with Alagille syndrome: Case reports

Key findings:

• Maralixibat (MRX) resulted almost complete resolution of severe, debilitating xanthomas and clinically meaningful improvements in pruritus/serum bile acid levels.
• Clinical scratch score in Case 1 dropped from baseline of 4 to 2 after MRX; in Case 2, it dropped from 3 to 1 after MRX
• Serum bile acids in Case 1 dropped from baseline of 468 micromol/L to 206 after MRX; in Case 2 it dropped from 57 to 25 after MRX
• This case report involved two patients with ALGS and unusual manifestations of xanthomatosis, including one patient with airway xanthomas and a second patient with severe, diffuse xanthomas

From Figure 1 showing airway and skin changes in case 1:

Discussion:

• “The ICONIC study by Gonzales et al. showed significant improvements in xanthomas in participants treated with maralixibat by 48 weeks, based on overall reductions in the Clinician Xanthomas Score, with further improvements in patients treated for longer durations. Xanthoma reduction was associated with improved quality of life and levels of TC.⁴ This report reviewed real-world experience in two patients with ALGS and characterized the extent of their improvement after treatment with maralixibat.”

My take: This report provides convincing evidence that maralixibat was associated with reversing severe xanthomas in these two patients with Alagille syndrome.

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