About CELSR1-related late-onset primary lymphedema
What is CELSR1-related late-onset primary lymphedema?
CELSR1-related late-onset primary lymphedema is a rare genetic disorder caused by mutations in the CELSR1 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.
What are the symptoms of CELSR1-related late-onset primary lymphedema?
The symptoms of CELSR1-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.
What are the causes of CELSR1-related late-onset primary lymphedema?
CELSR1-related late-onset primary lymphedema is caused by mutations in the CELSR1 gene. This gene is responsible for the production of a protein that helps regulate the development of lymphatic vessels. Mutations in this gene can lead to abnormal development of the lymphatic vessels, resulting in lymphedema.
What are the treatments for CELSR1-related late-onset primary lymphedema?
1. Compression therapy: This involves wearing compression garments such as stockings, sleeves, and gloves to reduce swelling and improve lymphatic drainage.
2. Manual lymphatic drainage: This is a type of massage that helps to move lymph fluid and reduce swelling.
3. Exercise: Regular exercise can help to improve lymphatic drainage and reduce swelling.
4. Diet: Eating a healthy diet can help to reduce inflammation and improve lymphatic drainage.
5. Surgery: In some cases, surgery may be recommended to remove excess lymphatic tissue or to create new pathways for lymphatic drainage.
What are the risk factors for CELSR1-related late-onset primary lymphedema?
1. Family history of primary lymphedema
2. Female gender
3. Age of onset after puberty
4. Presence of CELSR1 gene mutation
5. Obesity
6. History of trauma or surgery to the affected limb
7. History of recurrent infections in the affected limb
8. History of chronic venous insufficiency or deep vein thrombosis in the affected limb
Is there a cure/medications for CELSR1-related late-onset primary lymphedema?
At this time, there is no known cure for CELSR1-related late-onset primary lymphedema. However, there are medications and treatments available to help manage the symptoms. These include compression garments, physical therapy, and medications such as diuretics and anti-inflammatory drugs. Additionally, lifestyle modifications such as weight loss, exercise, and avoiding extreme temperatures can help reduce the severity of symptoms.