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At a glance

It is a familial primary congenital lymphedema disorder that involves mainly the lower limbs and is present at birth. Other clinical features include recurrent scrotal swelling, intestinal tract protein loss, persistent pulmonary pleural effusion, and hypoproteinemia. The most common presentation of Milroy Disease is bilateral lower extremity lymphedema hat is normally accompanied by hydrocele.

Synonyms

Nonne-Milroy-Meige Lymphedema; Primary Congenital Lymphedema; Hereditary Lymphedema, Type I.

History

The first case description was reported by Rudolf L. K. Virchow in 1863. Dr Virchow (1822-1902) was a German pathologist and a Statesman. Subsequently, Max Nonne, a German neurologist, reported a case of hereditary lymphedema of the legs in 1891. In 1892, Dr. Willian F. Milroy (1855-1942), an American physician, reported in a 31-year-old man the same condition than his mother, confirming the genetic inheritance of this medical condition. This medical condition was named by Sir William Osler after Milroy extensive review of the disease. Following work by Milroy on 22 persons, Henri Meige, a French physician, described the condition in 1898.

Classification

Primary lymphedema is divided in three groups based on the age of onset:

  • Milroy disease: Congenital lymphedema present at birth and autosomal dominant inheritance.

  • Lymphedema praecox (Meige disease): Presents after birth, but before the age of 35 years. The age of onset is usually during adolescence.

  • Lymphedema tarda: After age of 35 years. Of patients with primary lymphedema, 10% have Milroy disease, 80% present with lymphedema praecox, and 10% lymphedema tarda.

Incidence

Twenty percent of all primary lymphedemas. In the United States, primary lymphedemas occur in 1:10,000 individuals. Approximately 200 cases have been described in the literature.

Genetic inheritance

Autosomal dominant inheritance with variable expression.

Pathophysiology

Results from inadequate lymphatic drainage because of congenital abnormalities of the lymphatic system. The protein content of the extravascular tissue rises and, because of its osmotic effect, additional water is retained. This excess of extravascular protein leads to proliferation of fibroblasts and organization of the edema fluid, giving rise to firm, nonpitting edema.

Diagnosis

Clinical findings, results of the patent blue test and possibly fluorescence microlymphography with fluorescent dextrans, indirect lymphography, or isotope studies are essential to establish the diagnosis. In Milroy disease, the lymphatic capillaries and precollectors are aplastic.

Clinical aspects

Milroy disease presents at birth; the edema is confined to legs and feet. Over time, with the development of fibrosis, the edema becomes nonpitting. The overlying skin becomes hyperkeratotic with fissures, and secondary infection occurs. Severe lymphedema is called elephantiasis (filariasis). Often associated with congenital chylous ascites, recurrent scrotal swelling, intestinal tract protein loss, persistent bilateral pleural effusion, and hypoproteinemia. Poor wound healing after trauma. ...

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