Milroy

Milroy's disease is a rare, inherited condition characterized by chronic lymphedema, primarily in the legs. The condition is also known as primary lymphedema and Milroy disease. It is caused by mutations in the FLT4 gene and is inherited in an autosomal dominant pattern.

Symptoms[edit | edit source]

The most common symptom of Milroy's disease is swelling in the lower extremities, typically present from birth. Other symptoms may include upslanting toenails, deep creases in the toes, and abnormal growth of the affected limb.

Causes[edit | edit source]

Milroy's disease is caused by mutations in the FLT4 gene. This gene provides instructions for making a protein that is involved in the development of the lymphatic system, which is part of the body's immune system and helps fight infection and disease. Mutations in the FLT4 gene disrupt the normal development of the lymphatic system, leading to the symptoms of Milroy's disease.

Diagnosis[edit | edit source]

Diagnosis of Milroy's disease is based on the clinical symptoms and may be confirmed by genetic testing. Imaging studies such as lymphoscintigraphy may also be used to visualize the lymphatic system and identify abnormalities.

Treatment[edit | edit source]

There is currently no cure for Milroy's disease. Treatment is aimed at managing the symptoms and may include compression therapy, manual lymphatic drainage, and exercise therapy. In some cases, surgery may be recommended to improve lymphatic drainage.

Prognosis[edit | edit source]

The prognosis for individuals with Milroy's disease varies. Some individuals may experience mild symptoms and lead normal lives, while others may have severe symptoms that affect their quality of life.

See also[edit | edit source]

Milroy Resources
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