A 20-yr-old black male was admitted with a 5-month history of profound
weight loss and
diarrhea. Appetite and dietary intake had been remarkably well preserved up until the week before admission. The severity of his depletion was evidenced by a
body weight of only 38% of standard, multiple
electrolyte deficiencies, and reduced metabolic expenditure,
protein turnover,
protein synthesis, and pancreatic function. Immunological defects included diminished lymphocyte numbers, lymphocyte transformation,
gamma-globulin concentration, and cell-mediated immunity. A diagnosis of alpha-
heavy chain disease (alpha-HCD) was made on endoscopic duodenal biopsy and serology--
lymphoma being excluded by scanning and
laparotomy. Treatment consisted initially of intravenous nutrition (because of the extreme
malnutrition, severe
diarrhea, and malabsorption of fluid,
electrolytes,
carbohydrates, and fat) and oral
tetracycline. Response was dramatic, with a doubling of
body weight within 6 wk, and resolution of malabsorption. He was discharged on a normal diet and long-term oral
tetracycline (250 mg/day), and at 1-yr follow-up, nutritional status and gut function were normal despite persistence of duodenal mucosal abnormalities and markers of alpha-HCD and bacterial overgrowth. These results suggest that the malabsorption initially identified in this patient was not due simply to the mucosal abnormalities that characterize alpha-HCD, but was more a consequence of the superimposition of nutrient maldigestion and absorption resulting from the extreme state of
protein deficiency and its effects on gut and pancreatic function.