Alpha-1 antitrypsin deficiency is a rare disorder in Israel that involves faulty production of the enzyme alpha-1 antitrypsin (A1AT), which is typically produced in the liver. The enzyme is produced in a defective manner, and instead of being properly released into the bloodstream, it accumulates in liver cells, causing damage to this organ, while other parts of the body experience an enzyme deficiency. Alongside liver impairment, the disease may exacerbate susceptibility to respiratory issues. This condition can manifest in various ways, and only about one-tenth of patients experience liver involvement. Even in children with liver involvement, the extent of impairment varies significantly from child to child, ranging from mild abnormalities in routine blood tests to liver failure.
The disorder can lead to prolonged jaundice in infants and may be accompanied by symptoms such as pale-colored stool, dark urine, or clotting abnormalities. Additional symptoms might appear later in life, including signs of liver failure or elevated liver pressure.
Diagnosis of the disorder is performed using specialized blood tests that determine the form of the enzyme in the blood, confirming the presence of the defective form. Occasionally, an ultrasound of the liver or a liver biopsy might be needed to assess the severity of the disease.
Since the disorder is genetic, it is not curable. Treatment for affected children primarily focuses on supportive care. Fat-soluble vitamins (A, D, E, and K) are given as nutritional supplements, and specialized nutrition might be recommended to overcome nutritional deficiencies. Children with the condition are advised to avoid smoking and passive smoke exposure.
In some cases, medications that help control itching, which can occur due to the accumulation of bile byproducts in the body, are recommended. If liver failure or elevated liver pressure develops, they can be managed with medications and, in more distant cases, surgical procedures.
In the case of liver failure, liver transplantation is a life-saving procedure with promising outcomes.