Alagille syndrome overview

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Alagille syndrome is a multisystem genetic disorder that affects the liver, heart, eyes,face, skeleton, kidneys and vascular system. Problems associated with the disorder generally become evident in infancy or early childhood. The patients have a characteristic facial appearance. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 70,000 live births. The clinical features are highly variable even within the family.

Alagille syndrome can be associated with congenital heart disease, particularly Tetralogy of Fallot. The kidneys and central nervous system may also be affected. Cases of unilateral coronal craniosynostosis have also been described in association with this syndrome.

Pathophysiology

This condition is inherited in an autosomal dominant pattern.

Epidemiology and Demographics

The estimated prevalence of Alagille syndrome is 1 in every 70,000 live births.

Natural History, Complications and Prognosis

Mortality is approximately 10%, with vascular accidents, cardiac disease, and liver disease accounting for most of the deaths. Vascular anomalies account for 34% of the mortality in this population [1].

Diagnosis

The diagnosis is primarily clinical.

Treatment

There is no known cure for Alagille's Syndrome. Most of the treatments available are aimed at improving the functioning of the heart, and reducing the effects of impaired liver function.

References

  1. Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA; et al. (2004). "Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality". Circulation. 109 (11): 1354–8. doi:10.1161/01.CIR.0000121361.01862.A4. PMID 14993126.

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