Johnstone's Syndrome

Johnstone's Syndrome, also known as Johnstone’s disease, is a rare genetic condition characterized by an abnormality in the body's ability to metabolize certain nutrients, primarily affecting the liver. This can lead to issues with blood cholesterol levels and the development of xanthomas, which are fatty deposits that can appear on the skin. It may also impact reproductive health and liver function. Diagnosis typically involves genetic testing and blood tests, while treatment focuses on managing symptoms and dietary adjustments to promote overall health. Early detection and management are important for improving quality of life.