Familial neonatal hypoproteinaemia with exudative enteropathy and intestinal lymphangiectasis.

Patients with hypoproteinaemia and oedema are usually found to have cirrhosis of the liver or the nephrotic syndrome. When these and other less common conditions are excluded there remains a group of patients labelled 'idiopathic hypoprcteinaemia'. Increased katabolism of albumin in these cases was first demonstrated by balance studies following intravenous albumin (Albright, Bartter, and Forbes, 1949) and by isotope studies using 35Slabelled methionine (Kinsell, Margen, Tarver, Frantz, Flanagan, Hutchin, Michaels, and McCallie, 1950). Demonstration of the gastro-intestinal tract as a site of increased katabolism of albumin was first made in a patient with Menetrier's disease, or giant rugal hypertrophy of the stomach (Citrin, Sterling, and Halsted, 1957). Following the introduction of 131I-labelled polyvinyl pyrrolidone (PVP) by Gordon (1959), and with the development of a more satisfactory technique using 51Cr-labelled albumin (Waldmann, 1961), it has become apparent that almost all patients with idiopathic hypoproteinaemia have increased loss of protein into the gastrointestinal tract. These developments have been reviewed by Schwartz and Jarnum (1959), and by O'Meallie (1963). When first recognized this situation was called 'exudative enteropathy' (Gordon, 1959), but at present the usual term is 'protein losing gastroenteropathy' (Lancet, 1959) or just 'protein-losing enteropathy' (PLE). This term is in some danger of acquiring the same type of ambiguity as 'steatorrhoea' (Parfitt, 1965). It should simply mean an increased leak of protein into the gut demonstrated by one of the above-mentioned techniques, and as such it is, like steatorrhoea, a manifestation of many different diseases. Unfortunately, there is a tendency to use the term as if it were the name of a specific entity. PLE may occur without any demonstrable