Sunday, June 7, 2020

The Milroy Disease


The Milroy disease is a rare disease that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. The transportation disorders and the accumulation of lymphatic liquid are causing the lymphatic edema (or lymphedema). Individuals with the Milroy disease usually develop swelling in the legs shortly after birth. They typically appear on both halves of the body and are not advancing with time.

Besides the lymphatic edema, Milroy’s disease patients may be born with an accumulation of fluid in the scrotum (hydrocele) or malformations of the urethra (the tube that carries the urine from the bladder to the urethra, outside). Other symptoms may be prominent veins in the legs, feet fingers in an upward position, verruciform excrescences. Some patients may develop a non-contagious skin infection called cellulitis, which deteriorates the lymphatic vessels. This type of cellulite is more likely in men than in women and it intensify the edemation process in legs.

lymphedema legs after treatment

70-80% of the individuals with the Milroy disease are women.


The Milroy disease develops due to a defect in the development of the lymphatic vessels in the uterus. At the cellular level, the Milroy disease is associated with a gene mutation FLT4, which serves to encode the information to produce a protein called “receiver three of the vascular endothelial growth factor” (VEGFR-3). This protein regulates and supports the development of the lymphatic system.  The FLT4 gene mutations affect the growth, the development and the survival of the lymphoid cells. Given that lymphatic vessels are small or absent, the lymph is not properly transported and it is stored in the body tissues forming the lymphatic edema. It is unknown how this mutation is conditioning the other pathological manifestations of the disease.

Not all individuals with Milroy disease show a FTL-4 gene mutation. In their case, the disease etiology is unclear.

Clinical Manifestations

  • The edema occurring at birth, are firm to the touch, and it the skin temperature that it covers is high. The feeling of wood can occur in the area, showing progressive tissue fibrosis.
  • -Usually, the right foot inferior extremity is involved. The edema usually appears on the front of the dorsal foot and does not extend beyond the knee.
  • – Patients may show cellulitis, papillomatosis and large-caliber veins in the legs.
  • – In males, the hydrocele is the second most frequently sign (after edema)
  • – Usually, one or more family members have congenital lymphatic edema.
  • -Sometimes the xantoame veruciforme bleeding can occur behind toes.

Diagnosing The Milroy Disease

The basic clues that suggest the diagnosis of the Milroy’s disease are the edemas and the relevant family history (similar cases in the family). Currently the 100% accurate diagnosis is done with an investigation called lymphoscintigraphy, which consists of injecting a radioactive substance in the leg and a computer monitors its distribution tracking to identify the exact location of the lymphatic blockage.

How To Treat

The type of treatment most often practiced in the Milroy disease is the decongestant treatment. There is no specific treatment but the disease can be kept under control if it is diagnosed early and it is treated properly to prevent the complications: infection, pain, skin problems and in rare cases lymphangiosarcoma, vertebral anomalies, cerebrovascular malformations.


The long-term prognosis is good, provided it is diagnosed in time and an appropriate treatment is started immediately.

Gloria Brown
Women's health and wellness retreat leader providing vacations and trips for women to get in shape -- and stay that way! On you can find my articles about weight loss, health and women's issues. Please feel free to contact me on

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