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Alagille syndrome is a rare, multi-organ genetic disease. People struggling with Alagille syndrome suffer, inter alia, from for chronic cholestasis, which is manifested by persistent itching of the skin and jaundice, i.e. lumpy skin lesions caused by the build-up of cholesterol. What are the causes and other symptoms of Alagille syndrome? What is the treatment?

Alagille syndromeis a set of congenital malformations, which includes defects of the cardiovascular system, spine and eyes, kidneys, as well as cholestasis and altered facial features. The prevalence is estimated at 1: 70,000 live births.

Alagille syndrome - causes and inheritance

Alagille's syndrome is a genetic disease caused by a mutation in the Jagged1 (JAG1) gene, located on chromosome 20 (20p12). The JAG1 gene is involved in signaling between neighboring cells during embryonic development. This signaling influences the way cells form the structures of the body. Mutations in the JAG1 gene disrupt the signaling pathway, causing errors in the baby's development. The mutation of the JAG1 gene can now be detected in 94 percent. patients. The problem with detecting the mutation in the rest of the patients is not fully understood.

The disease is inherited in an autosomal dominant fashion, i.e. a person inherits one normal copy of the gene and one altered copy of the gene. However, the altered copy of the gene dominates or becomes more important than the working copy. This causes the symptoms of a genetic disease to emerge.

Alagille syndrome - symptoms

1. Chronic cholestasis (blockage of bile produced by the liver), which is manifested by persistent itching of the skin, enlarged liver, yellowing of the skin, and jaundice, i.e. lumpy skin lesions caused by cholesterol build-up, which most often occurs around the eyelids. It is the most constant symptom of the disease. It is often the first symptom of Alagille syndrome in infancy, when the other characteristics of the syndrome are missing.

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2. Characteristic facial features - convex broad forehead, deep set and widespaced eyes, wide nose, small pointed chin.

3. Bone defects - most often the so-called butterfly circle, i.e. the splitting of a single vertebra, usually at the height of the thoracic spine. In addition, the distal phalanges may be shortened or absent.

4. Cardiovascular defects - most often peripheral pulmonary stenosis, sometimes coexisting with valvular stenosis of the pulmonary artery, tetralogy of Fallot and other heart defects. Then cyanosis, attacks of breathlessness and fatigue during exercise may occur.

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5. Ophthalmic defects - most often "posterior embryotoxon" - a defect consisting in the displacement of the Schwalbe line (i.e. the border between the cornea and the sclera) to the anterior chamber of the eye.

The diagnosis of Alagille syndrome requires the presence of three or two of these features in patients from families with this disease.

In addition, patients may develop kidney defects (most often tubular acidosis, hypoplastic kidney. Less commonly, renal cystic disease, mesangiolipidosis, nephrolithiasis), pancreatic exocrine insufficiency and growth deficiency (short stature).

Alagille syndrome - diagnosis

Alagille's syndrome is a complex disease, therefore, if it is suspected, a number of tests should be performed, such as, e.g. blood tests, cardiac echocardiography and chest X-ray, slit-lamp examination of the anterior segment of the eyeball, and sometimes also histopathological examination of a liver segment.

Alagille syndrome - treatment

Alagille syndrome therapy includes:

  • giving the patient fat-soluble vitamins and ursodeoxycholic acid (dissolves cholesterol biliary changes), and when itching is severe - rifampicin;
  • treatment of malnutrition, ascites, coagulation disorders, ascending cholangitis and bleeding from esophageal varices;
  • partial external bile drainage treatment;

Liver transplantation is inevitable in some cases.

Alagille syndrome - prognosis

The prognosis is determined by the presence and severity of liver and cardiovascular disease. According to research, some patients may die as a result of liver failure, from cardiac causes or hemorrhages to the brain.

Bibliography: Gliwicz D., Jankowska I., Pawłowska J.,Alagille syndrome , "Medical Science Review. Hepatologia" 2010, No. 10.

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Category:

Genetic diseases