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Milroy Disease

What is Milroy disease?

Milroy disease is a disease of the lymphatic system that is characterized by swelling in the feet and legs. It goes by a variety of other names, such as congenital primary lymphedema and Nonne-Milroy syndrome. 

What are the symptoms of Milroy disease?

The symptoms of this condition are: 

  • Lymphedema
    • Note: this means swelling of the feet and legs
  • Nonimmune hydrops
  • Fluid buildup in the scrotum
  • Changes in the skin
    • Ex: easily seen veins
  • Upslanting toenails
  • Papillomatosis
  • Increased risk of skin infections
  • Increased risk of certain cancers

What causes Milroy disease?

A mutated FLT4 gene is responsible for this rare disease, and it is inherited in an autosomal dominant pattern. This gene holds the instructions for the vascular endothelial growth factor receptor 3 (VEGFR-3) protein, which is needed for the proper growth and maintenance of the lymphatic system. When this gene is mutated, lymphatic vessels are either too small or missing entirely, leading to fluid buildup and the characteristic symptoms.

How is Milroy disease diagnosed?

When diagnosing Milroy disease, doctors typically notice the characteristic symptoms of the disease and perform a clinical exam. Further testing – such as lymphoscintigraphy – may be required, and genetic testing is used to confirm a diagnosis. 

What are the treatments for Milroy disease?

There is no treatment specific to this disease; instead, it focuses on managing symptoms. 

Where can I find out more about Milroy disease?

Milroy Disease Articles