Bland-White-Garland Syndrome

Blount-Garland-White Syndrome or Blount-White Garland syndrome is a rare genetic disorder. It is characterized by metabolic disorders and a rare hereditary digestive disorder. The disease occurs due to a mutation in the glucose-6 phosphatase gene leading to impaired fat breakdown, which leads to impaired absorption of fatty acids from the small intestine, as a result of which there is a decrease in the secretion of bile acids in the liver, which leads to impaired absorption of calcium. As a result, the concentration of bilirubin and calcium in the blood increases. Patients have a characteristic appearance - light skin color, since the body cannot absorb skin pigments, they are excreted from the body. The patient looks like

Bland-White-Garland syndrome is a rare hereditary disease that is characterized by the development of fine-grained degeneration of the hepatic parenchyma and liver cirrhosis due to cholestasis syndrome.

The syndrome is named after the names of three famous cardiologists who described the first cases of the disease - Irwindo Bland, David White, and James Garland. The first cases of the disease were described at the beginning of the twentieth century, but for a long time the disease did not have an official name and was considered a rare phenomenon. Only in 2005, with a more detailed study of the syndrome, it was officially recognized as a disease and received the name Bland-White-Garland syndrome.

Symptoms of the disease may be: jaundice, abdominal pain, nausea, vomiting, loss of appetite, increased body temperature. In advanced cases, cirrhosis of the liver may develop, which will inevitably lead to liver failure - the organ stops functioning as it should, and the person falls into a hepatic coma. The causes of the disease are still unclear, but there are suggestions that a genetic factor is involved in the development of the disease in both children and adults. However, the exact reasons for the development of the disease are currently unknown.