Milroy’s Disease: Causes, Symptoms, Treatment, and Complications

Milroy’s disease is a rare genetic disorder characterized by abnormal development of the lymphatic system, resulting in chronic swelling

milroy's Disease

What is Milroy’s Disease?

Milroy’s disease is a hereditary condition characterized by congenital lymphedema, meaning it is present from birth. It is classified as a primary lymphedema, as it arises from abnormalities in the lymphatic system itself rather than being secondary to another condition or injury. The lymphatic system is responsible for draining excess fluid from tissues and maintaining fluid balance in the body. In individuals with Milroy’s disease, impaired lymphatic drainage results in the accumulation of lymph fluid, particularly in the legs and feet.

Causes of Milroy’s Disease

Milroy’s disease is primarily caused by mutations in genes responsible for the development and function of the lymphatic system. Specifically, mutations in the FLT4 gene, which encodes a protein called vascular endothelial growth factor receptor-3 (VEGFR-3), have been implicated in the pathogenesis of Milroy’s disease. These genetic mutations disrupt normal lymphatic vessel formation and function, leading to impaired drainage of lymph fluid and subsequent swelling of the affected limbs.

Signs and Symptoms

The hallmark symptom of Milroy’s disease is persistent swelling, or lymphedema, typically affecting one or both legs. The swelling may be present at birth or develop gradually over time and tends to worsen with age. Other common symptoms include:

  • Feeling of heaviness or tightness in the affected limb
  • Decreased mobility
  • Recurrent skin infections
  • Thickened and hardened skin over the swollen area (fibrosis)


While there is no cure for Milroy’s disease, treatment aims to manage symptoms, reduce swelling, and improve quality of life. A multidisciplinary approach involving healthcare professionals such as lymphedema therapists, physical therapists, and genetic counselors is often employed to address the diverse needs of individuals with Milroy’s disease.

Compression Therapy:

  • Compression garments, such as stockings or sleeves, are commonly prescribed to help reduce swelling and prevent the accumulation of lymph fluid in the affected limbs. These garments exert external pressure on the tissues, promoting lymphatic drainage and improving circulation.

Manual Lymphatic Drainage (MLD):

  • MLD is a specialized massage technique performed by trained therapists to stimulate lymphatic flow and reduce swelling. By gently manipulating the affected area, MLD helps mobilize excess fluid and facilitate its drainage through unaffected lymphatic vessels.

Complete Decongestive Therapy (CDT):

  • CDT is a comprehensive treatment approach that combines compression therapy, MLD, exercise, and skincare to manage lymphedema effectively. This multidisciplinary approach addresses both the physical and emotional aspects of living with Milroy’s disease and aims to improve overall quality of life.

Complications of Milroy’s Disease

Untreated or poorly managed Milroy’s disease can lead to various complications that significantly impact an individual’s health and quality of life. Understanding these potential complications is essential for effective management and prevention strategies.

1. Recurrent Skin Infections

Persistent swelling and compromised lymphatic drainage in the affected limbs create an ideal environment for bacterial growth, increasing the risk of recurrent skin infections. Conditions such as cellulitis, characterized by redness, warmth, and swelling of the skin, can occur frequently in individuals with Milroy’s disease. These infections may require prompt medical intervention, including antibiotics, to prevent further complications.

2. Lymphangitis

Lymphangitis is a condition characterized by inflammation of the lymphatic vessels, often resulting from bacterial infection. In individuals with Milroy’s disease, impaired lymphatic drainage predisposes them to lymphangitis, which manifests as red streaks along the skin, accompanied by pain, swelling, and fever. Prompt treatment with antibiotics is crucial to prevent the spread of infection and potential systemic complications.

3. Fibrosis

Chronic lymphedema can lead to fibrosis, or the hardening and thickening of the skin and underlying tissues in the affected limb. Fibrosis results from the accumulation of collagen fibers and scar tissue, leading to reduced flexibility and mobility of the limb. In severe cases, fibrosis can exacerbate lymphedema, making it more challenging to manage and increasing the risk of skin breakdown and ulceration.

4. Psychosocial Impact

Living with a chronic condition such as Milroy’s disease can have significant psychosocial implications, impacting an individual’s emotional well-being and quality of life. Persistent swelling, physical discomfort, and the visible nature of the condition may lead to feelings of self-consciousness, anxiety, or depression. Social isolation and impaired body image can further exacerbate these psychological effects, highlighting the importance of holistic support and mental health interventions.

5. Complications from Surgical Interventions

In some cases, individuals with severe or refractory Milroy’s disease may undergo surgical interventions such as lymphatic bypass procedures or debulking surgeries to alleviate symptoms and improve lymphatic drainage. However, these surgical interventions carry inherent risks, including infection, bleeding, and complications related to anesthesia. Careful consideration of the potential risks and benefits is essential when considering surgical options for managing Milroy’s disease.


In conclusion, Milroy’s disease is a rare genetic disorder characterized by abnormal development of the lymphatic system, resulting in chronic swelling of the affected limbs. While there is no cure for Milroy’s disease, various treatment options are available to manage symptoms and improve quality of life. Early diagnosis and prompt intervention are essential for minimizing complications and optimizing outcomes for individuals living with this challenging condition. By raising awareness and fostering a comprehensive approach to treatment and support, healthcare professionals can empower individuals with Milroy’s disease to lead fulfilling and meaningful lives despite the challenges they face.


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