Lymphangiectasia, Intestinal

Clinical Features

Homburger and Petermann (1949) described a disorder, which they called 'familial idiopathic dysproteinemia,' characterized by edema of the legs, with ulcers in the males and 'functional vascular changes' in the females; dysproteinemia of variable type, sometimes discernible only by electrophoresis; a number of congenital malformations; and a high incidence of stillbirths. Persons in 3 generations were affected and male-to-male transmission occurred. Subsequently these patients were found to have intestinal loss of protein, presumably because of lymphangiectasia (Waldmann et al., 1961; Waldmann and Schwab, 1965). Murphy (1972) gave clinical follow-up. Lymphopenia due to exaggerated intestinal loss was also a feature. Double vortex pilorum ('hair whorl') and usually prominent 'floating ribs' (ribs 11 and 12) were present.

Cottom et al. (1961) reported neonatal hypoproteinemia in 2 sibs.

Parfitt (1966) described 3 sibs (2 females, 1 male) affected out of 5. All had neonatal edema. The small bowel showed dilated lymphatic spaces and partial villous atrophy.

Patients with intestinal lymphangiectasia have hypogammaglobulinemia, lymphocytopenia, skin anergy, and impaired allograft rejection. Peripheral blood lymphocytes show impaired in vitro blastic transformation (Weiden et al., 1972). This is attributable to depletion of lymphocytes necessary for transformation. The situation is comparable to experimental thoracic duct drainage.

See also hereditary lymphedema IA (153100) and protein-losing enteropathy (226300).

Inheritance

The transmission pattern of intestinal lymphangiectasia in the family reported by Homburger and Petermann (1949) was consistent with autosomal dominant inheritance.