Alagille syndrome overview

Jump to navigation Jump to search

Alagille syndrome Microchapters

Home

Patient Info

Overview

Historical Perspective

Pathophysiology

Epidemiology & Demographics

Risk Factors

Causes

Differentiating Alagille syndrome from other Diseases

Natural History, Complications & Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Alagille syndrome overview On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Alagille syndrome overview

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Alagille syndrome overview

CDC on Alagille syndrome overview

Alagille syndrome overview in the news

Blogs on Alagille syndrome overview

Directions to Hospitals Treating Alagille syndrome

Risk calculators and risk factors for Alagille syndrome overview

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.

Template:WH Template:WS