GJC2-related late-onset primary lymphedema is a rare genetic disorder caused by mutations in the GJC2 gene. It is characterized by swelling of the arms and legs due to a buildup of lymphatic fluid. Symptoms usually begin in adulthood and can range from mild to severe. Treatment typically involves lifestyle modifications, compression garments, and physical therapy.

The symptoms of GJC2-related late-onset primary lymphedema include swelling of the arms, legs, and/or trunk, pain, tightness, and a feeling of heaviness in the affected area. Other symptoms may include skin discoloration, skin thickening, and recurrent infections.

GJC2-related late-onset primary lymphedema is caused by mutations in the GJC2 gene. This gene is responsible for producing a protein called connexin 47, which is essential for the proper functioning of the lymphatic system. Mutations in this gene can lead to a disruption in the normal functioning of the lymphatic system, resulting in lymphedema.

1. Compression garments: Compression garments are the most common treatment for GJC2-related late-onset primary lymphedema. These garments help to reduce swelling and improve lymphatic drainage.

2. Manual lymphatic drainage: Manual lymphatic drainage is a type of massage that helps to reduce swelling and improve lymphatic drainage.

3. Exercise: Exercise can help to reduce swelling and improve lymphatic drainage.

4. Surgery: Surgery may be recommended in some cases to remove excess fluid and reduce swelling.

5. Skin care: Proper skin care is important to prevent infection and reduce swelling.

6. Diet: Eating a healthy diet can help to reduce swelling and improve lymphatic drainage.

1. Family history of GJC2-related late-onset primary lymphedema
2. Female gender
3. Age of onset (usually after age 40)
4. Obesity
5. History of trauma or surgery to the affected limb
6. History of recurrent infections in the affected limb
7. History of chronic venous insufficiency or venous thrombosis in the affected limb
8. History of radiation therapy to the affected limb

At this time, there is no known cure for GJC2-related late-onset primary lymphedema. However, there are medications and treatments available to help manage the symptoms. These include diuretics, compression garments, physical therapy, and lymphatic massage. Additionally, lifestyle modifications such as avoiding extreme temperatures, avoiding tight clothing, and maintaining a healthy weight can help reduce the risk of developing lymphedema.