Symptoms Of Alagille Syndrome

October 1, 2023

Alagille syndrome, also referred to as Alagille disease, is a condition characterized by abnormal bile ducts that lead to chronic cholestasis. This condition translates to less production of bile passed to the intestine from the liver. When bile is not able to drain out of the liver, it causes liver damage because of the bile piling up in the liver. When there is extreme liver damage, it can cause cirrhosis.

Alagille syndrome is generally a hereditary syndrome handed down from parent to child. The siblings of a child who has Alagille’s syndrome have a one in thirty chance of developing it if both parents do not have any symptoms. Now, if one parent has the symptoms, it raises the chances to one in ten.

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Jaundice

Individuals who have Alagille syndrome have the potential of developing jaundice and cholestasis because the liver of the patient has few bile ducts compared to an average person. This can happen within the first four months after birth. Cholestasis refers to the obstruction or reduced flow of bile out of the liver. Due to the occurrence of jaundice, you can easily see the yellowing of the skin, whitening of the eyes, intense itching (pruritus), pale stools, dark urine, fatty bumps (xanthomas) or sores under the skin’s surface, and an abnormally large liver (hepatomegaly), or enlarged spleen (splenomegaly). Since the body will not be in a position to properly absorb fat soluble vitamins and fats. Children affected by Alagille syndrome may experience growth deficiencies.

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Heart Murmurs

Individuals with this condition have heart abnormalities that can start from unnoticeable heart murmurs to serious defects in the heart's structure. With heart murmurs, you will hear an additional sound when the heart is beating. In children who have Alagille syndrome, heart murmurs are caused by the narrowing of the pulmonary artery. You will find children with Alagille syndrome have complex heart defects, such as tetralogy of Fallot, which is a rare version of cyanotic heart disease. Cyanosis is characterized by a bluish discoloration of the mucous membranes and the skin because of the lack of the right amount of oxygenated blood.

There are four heart defects in the tetralogy of Fallot: a massive enlargement of the right atrium, displacement of the largest artery in the body (aorta) that causes blood-flow from the left and right ventricles to the aorta, ventricular heart defect, and obstruction of the blood flow from the right atrium of the heart to the lungs because of pulmonary stenosis. Pulmonary stenosis is an abnormally narrow opening that occurs between the pulmonary artery and the right atrium. Other defects include atrial septal defects, ventricular septal defects, aorta coarctation, and patent ductus arteriosus.

Some studies have indicated in rare cases, Wolff-Parkinson-White syndrome can be associated with this condition and symptoms. In Wolff-Parkinson-White syndrome, electrical disturbances are felt in the heart.

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Skeletal Abnormalities

Alagille syndrome patients can have skeletal abnormalities of the ribs, vertebrae, and hands. Additionally, the most common findings on radiography are the butterfly-shaped vertebrae of the thorax, which is secondary to the abnormal clefting of the vertebral bodies.

Some of the additional skeletal features affected are the squared proximal portion of the fingers with tapering distal phalanges, and creases of the digital flexion. Other isolated anomalies include shortening of the phalanges, ulna, and radius. This condition is usually identified after an x-ray, but it does not often cause any problems or symptoms. An x-ray can show any other abnormalities that might cause the spine to take an abnormal shape. A possibility also exists to see an increase in the pathological long-bone fractures in the ALGS caused by the cholestasis or intrinsic bone defects.

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Nutrition Problems

Children often exhibit growth that is not linear. You may find children having nutrition problems like altered longitudinal growth and the presence of an element of growth hormone resistance. Patients living with Alagille syndrome tend to absorb nutrients when they subscribe to diets high in carbs and triglycerides (medium chain). Underweight patients can benefit highly from high calories or overnight tube feeing.

Additionally, these patients should also get supplementation of fat-soluble vitamins. Some patients may also need to take extra zinc. Since the condition damages the liver, these vitamins need to be consumed outside of natural food sources to maintain the patient's overall health of the patient.

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Impaired Kidney Function

Patients with Alagille syndrome have impaired kidney function because of NOTCH2 gene mutations. The individual may have really abnormally small-sized kidneys, kidney cysts, and impaired or decreased kidney function. Occult renal artery stenosis, glomerulosclerosis, or lipoid nephrosis can occur with symptoms and signs of chronic hypertension. It has been suggested that JAG1 and NOTCH2 play a role in proximal nephron podocytes. These structures contribute to the phenotypes of proteinuria, and renal dysplasia in Alagille syndrome. JAG1 in the collecting ducts can cause renal tubular acidosis.

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