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
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 ...