Milroy Disease

Symptoms, Doctors, Treatments, Research & More

Condition 101

What is the definition of Milroy Disease?

Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema in their lower legs and feet at birth or develop it in infancy. The lymphedema typically occurs on both sides of the body and may worsen over time.

Milroy disease is associated with other features in addition to lymphedema. Males with Milroy disease are sometimes born with an accumulation of fluid in the scrotum (hydrocele). Males and females may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. Some individuals develop non-contagious skin infections called cellulitis that can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes of cellulitis can cause further swelling in the lower limbs.

What are the causes for Milroy Disease?

Mutations in the FLT4 gene cause some cases of Milroy disease. The FLT4 gene provides instructions for producing a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system. Mutations in the FLT4 gene interfere with the growth, movement, and survival of cells that line the lymphatic vessels (lymphatic endothelial cells). These mutations lead to the development of small or absent lymphatic vessels. If lymph fluid is not properly transported, it builds up in the body's tissues and causes lymphedema. It is not known how mutations in the FLT4 gene lead to the other features of this disorder.

Many individuals with Milroy disease do not have a mutation in the FLT4 gene. In these individuals, the cause of the disorder is unknown.

How prevalent is Milroy Disease?

Milroy disease is a rare disorder; its incidence is unknown.

Is Milroy Disease an inherited disorder?

Milroy disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the FLT4 gene. These cases occur in people with no history of the disorder in their family. About 10 percent to 15 percent of people with a mutation in the FLT4 gene do not develop the features of Milroy disease.

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Latest Research

Latest Advance
  • Condition: breast cancer-related lymphoedema (BCRL)
  • Journal: Complementary therapies in medicine
  • Treatment Used: Photobiomodualtion therapy (PBMT)
  • Number of Patients: 316
  • Published —
This review analysed the effectiveness and safety of photobiomodualtion therapy (PBMT) for the treatment of breast cancer-related lymphoedema (BCRL).
Latest Advance
  • Condition: Prevention of Postoperative Lymphedema in Lower Limb after Total Hysterectomy for Endometrial Cancer
  • Journal: BMC surgery
  • Treatment Used: Lymphatic Venous Anastomosis
  • Number of Patients: 16
  • Published —
This report examined a long-term result of lymphaticovenous anastomosis procedure as a preventive surgery to prevent postoperative lymphedema (swelling) in lower limb after total hysterectomy in patients with endometrial cancer.

Clinical Trials

Clinical Trial
  • Status: Not yet recruiting
  • Study Type: Device
  • Participants: 30
  • Start Date: November 10, 2020
Exploratory Study to Evaluate the Clinical Benefits of Wearing the Panty MOBIDERM in Patients With Pelvic and/or Genital Lymphedema : OLYMPY Study
Clinical Trial
  • Status: Recruiting
  • Study Type: Radiation
  • Participants: 588
  • Start Date: November 1, 2020
Randomized Trial of Hypofractionated LocoRegional Radiotherapy in Breast Cancer and Lymphedema (RHEAL)