Alagille Syndrome is a genetic disorder which can affect the functioning of important organs like liver, heart, kidney and other systems of the body. This disorder becomes noticeable in early infancy and childhood. The severity may vary from person to person and in some cases transplantations may be required. This syndrome is related with cardiac disease, eye and skeletal findings and a typical facial appearance.
HOW IS ALAGILLE SYNDROME DIAGNOSED?
This syndrome is detected by microscopic examination of liver, biopsy specimens, stethoscope examination of the heart and chest, special eye examination, an x-ray or an ultrasound of the abdomen. In unusual or mild cases a genetic testing may be required. People with this syndrome may have similar faces like big forehead, sunken eyes and a small and pointed chin.
HOW IS ALAGILLE SYNDROME TREATED?
Most treatments available are aimed at improving the functioning of the heart and reducing the effects of impaired liver, kidney, and spleen function. Medications, surgery and angioplasty are the most common treatments for alagille syndrome.
DID YOU KNOW?
Many adults with Alagille syndrome are living normal lives. The life span is unknown but depends on various factors like condition of liver, need for transplantation, risk of stroke and other heart and lung problems that may develop with time.