Lymphedema hereditary type 2

Lymphedema hereditary type 2 (also known as Meige disease) is a rare genetic disorder characterized by the onset of lymphedema, typically in adolescence. This condition is caused by mutations in the FOXC2 gene and is inherited in an autosomal dominant manner.

Symptoms

The primary symptom of Lymphedema hereditary type 2 is lymphedema, which is swelling in the body's tissues due to a blockage in the lymphatic system. This typically affects the lower limbs and can cause discomfort and difficulty moving. Other symptoms can include varicose veins, droopy eyelids (ptosis), and a distinctive facial appearance with a flat nasal bridge and protruding eyes.

Causes

Lymphedema hereditary type 2 is caused by mutations in the FOXC2 gene. This gene provides instructions for making a protein that plays a crucial role in the development of the lymphatic system. Mutations in the FOXC2 gene disrupt the normal development of the lymphatic system, leading to the symptoms of Lymphedema hereditary type 2.

Diagnosis

Diagnosis of Lymphedema hereditary type 2 is based on the clinical symptoms and confirmed by genetic testing to identify a mutation in the FOXC2 gene.

Treatment

There is currently no cure for Lymphedema hereditary type 2. Treatment is focused on managing the symptoms and can include compression therapy, lymphatic massage, and in some cases, surgery.

See also

• Lymphedema
• FOXC2
• Genetic disorder
• Autosomal dominant