Alagille Syndrome – What it is, Causes, Symptoms and Treatments

Alagille Syndrome – What it is, Causes, Symptoms and Treatments  most suitable for this disease. In addition,  Alagille Syndrome is an autosomal dominant disorder with variable expression, with manifestations that include liver, heart, eyes, bones, kidneys and with facial features. Mild or severe mental retardation may also be present.

Mortality is approximately 10%, with stroke, heart disease and liver disease accounting for the majority of deaths. The diagnosis of Alagille Syndrome is essentially based on clinical findings.

It is an autosomal dominant, inherited, genetic disease that affects the liver, heart and other body systems. The problems associated with this disease begin to become evident in childhood, being one of the most frequent causes of chronic liver disease at this stage of life. It has a variable severity.

Causes of Alagille Syndrome: Alagille  Syndrome is  inherited as an autosomal dominant trait. This means it can be inherited from a parent who has the disorder. Children who have a parent with the disorder have a 50% chance of developing the disorder.

Those with the disorder have a genetic mutation (JAG1) in the Jagged1 gene. Mutations in the NOTCH2 gene can also be seen in less than 1% carriers.

Symptoms of Alagille Syndrome:  People with Alagille Syndrome usually have yellowish skin, eye spots, butterfly-shaped spine bones, heart problems, developmental delay, a lot of itching throughout the body and deposit of cholesterol in the skin.

Facial Features of Alagille Syndrome:  The features may not be present in every case of Alagille Syndrome , but may include:

• Prominent forehead;
• Eye defects (pigmentary retinopathy and optic disc abnormality);
• palpebral fissures;
• Hypertelorism;
• Flat nasal root;
• Pointy chin.

Features of Allagille Syndrome:  The general features of this disease are:

• Poverty of bile ducts with chronic cholestasis;
• Fat pockets under the skin, face and body;
• Ophthalmological changes (embriotoxon);
• vertebral defects;
• heart defects;
• Delay in development;
• Renal and bone changes;
• mental retardation;
• Squeaky voice.

Treatments For Alagille Syndrome:  The options available to patients suffering from Alagille Syndrome focus on increasing the flow of bile to the respective areas of the intestine for treatment.

This helps in improving the child’s ability to digest and absorb nutrients and vitamins from their diet, as well as the elimination of excessive body metabolic waste. As a result, your growth and development may improve and you may return to normal.

The various strategies for treating Alagille Syndrome are as follows:

• drugs;
• Medium Chain Triglycerides (MCT);
• Fat-soluble vitamins;
• Surgery;
• Liver transplant.