Table 6. [Alagille Syndrome: Treatment of Manifestations]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Pruritus & xanthomas	Choleretic agents (ursodeoxycholic acid), ileal bile acid transport inhibitors, & other medications (cholestyramine, rifampin, naltrexone)	Combination of therapies often required; biliary diversion may be performed for severe pruritus refractory to medical therapy.
Refractory cholestasis / End-stage liver disease	Liver transplantation	A liver specialist familiar w/ALGS is recommended in the treatment of hepatic manifestations.
Hepatocellular carcinoma	Standard treatments per hepatologist/oncologist
Poor growth	Optimized nutrition; replacement of fat-soluble vitamins as needed	Nasogastric feeds or gastrostomy tube may be required to maintain caloric intake.
Cardiovascular manifestations	Treatment per cardiologist & cardiothoracic surgeon at center w/experience in treatment of ALGS ¹
Ophthalmologic/ Vision	Low vision services as needed for those w/loss of visual function	Ocular issues in those w/ALGS rarely require treatment, as visual prognosis is good. However, some persons have peripheral chorioretinal changes incl atrophy (w/accompanying loss of function in the visual field) & other retinal pigmentary changes, macular atrophy, & progressive decrease in vision.
Renal manifestations	Treatment as needed per nephrologist
Neurodevelopmental manifestations	Developmental & educational support as needed

Manifestation/Concern

Treatment

Considerations/Other

Pruritus & xanthomas

Choleretic agents (ursodeoxycholic acid), ileal bile acid transport inhibitors, & other medications (cholestyramine, rifampin, naltrexone)

Combination of therapies often required; biliary diversion may be performed for severe pruritus refractory to medical therapy.

Refractory cholestasis /
End-stage liver disease

Liver transplantation

A liver specialist familiar w/ALGS is recommended in the treatment of hepatic manifestations.

Hepatocellular carcinoma

Standard treatments per hepatologist/oncologist

Poor growth

Optimized nutrition; replacement of fat-soluble vitamins as needed

Nasogastric feeds or gastrostomy tube may be required to maintain caloric intake.

Cardiovascular manifestations

Treatment per cardiologist & cardiothoracic surgeon at center w/experience in treatment of ALGS ¹

Ophthalmologic/
Vision

Low vision services as needed for those w/loss of visual function

Ocular issues in those w/ALGS rarely require treatment, as visual prognosis is good. However, some persons have peripheral chorioretinal changes incl atrophy (w/accompanying loss of function in the visual field) & other retinal pigmentary changes, macular atrophy, & progressive decrease in vision.

Renal manifestations

Treatment as needed per nephrologist

Neurodevelopmental manifestations

Developmental & educational support as needed

From: Alagille Syndrome

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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