Milroy Disease

Familial primary congenital lymphedema involving mainly the lower limbs and present at birth. Other features include recurrent scrotal swelling, intestinal tract protein loss, persistent pulmonary pleural effusion, and hypoproteinemia.

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

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.

First described in 1891 by Max Nonne, a German Neurologist, when he reported a case of hereditary lymphedemia of the legs. In 1892, William F. Milroy, an American physician, presented a 31-year-old man affected with a similar condition but which the mother also had. Following work by Milroy on 22 persons, Henri Meige, a French physician, described the condition in 1898.

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.

Autosomal dominant inheritance with variable expression.

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.

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.

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. In adulthood, development of lymphangiosarcomas and squamous epidermoid carcinomas, with 50% mortality within 24 months of diagnosis. Normal life expectancy in patients without tumors. Management is otherwise symptomatic; combined physical therapy with tight bandages and stockings, massage, and use of pneumatic devices for intermittent compression considerably reduces the edema and renders surgery unnecessary in most patients. Diuretics have a beneficial effect during early management and benzopyrones for long-term treatment. Surgical excision of subcutaneous tissue followed by skin graft is performed in selected patients.

Evaluate the respiratory system for presence of ascites and pleural effusion; determine if the patient is able to lie supine comfortably. Antibiotics for active skin infection must be continued or started. Assess nutritional status in the presence of chronic intestinal protein loss. Investigations include serum potassium (exclude diuretic-induced hypokalemia), serum protein and albumin levels, arterial blood gas analysis, chest radiography. Obtain an oncotic pressure reducing to assist with fluid therapy.

Venous cannulation will be difficult in the affected areas. Careful positioning of the affected limbs is required to prevent pressure sores and trauma. Stockings and pneumatic devices to reduce further dependency-related edema would be useful for long operations. Respiratory impairment from gross ascites and pleural effusion may be exacerbated by supine position. A general anesthesia with controlled ventilation minimizes patient's discomfort and helps reduce ventilation/perfusion (V/Q) imbalance. Adequate preoxygenation should be allowed before tracheal intubation to minimize the rapid desaturation that may occur during induction. The presence of a large interstitial volume and third space influence the choice of anesthetic agents.

Because low serum protein levels result in a higher free drug concentration, drugs that are highly protein bound (e.g., thiopentone) require dose reduction. Potassium supplementation may be required in those on long-term diuretic therapy. Thromboembolic prophylaxis should be considered.