Lymphedema hereditary type 1

Lymphedema hereditary type 1 is a rare genetic disorder characterized by the abnormal development of the lymphatic system, leading to swelling (lymphedema) in the limbs. 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 1 is lymphedema, which typically becomes apparent during adolescence or early adulthood. This swelling is often asymmetrical and can affect both the upper and lower limbs. Other symptoms may include varicose veins, cellulitis, and fat accumulation in the affected areas.

Genetics

Lymphedema hereditary type 1 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 1.

Diagnosis

Diagnosis of Lymphedema hereditary type 1 is based on the clinical symptoms and confirmed by genetic testing. The genetic test involves sequencing the FOXC2 gene to identify any mutations.

Treatment

There is currently no cure for Lymphedema hereditary type 1. Treatment is focused on managing the symptoms and includes physical therapy, compression garments, and in some cases, surgery.

See also

• Lymphedema
• FOXC2
• Autosomal dominant