Primary Hypogammaglobulinemia and Malabsorption

Intestinal absorption was investigated in six patients with a diagnosis of primary hypogammaglobulinemia. Malabsorption was found in four patients. Low serum vitamin E levels, decreased D-xylose absorption, and increased 5-hydroxyindoleacetic acid excretion in the urine correlated with malabsorption with minor exceptions. Five patients were subjected to jejunal biopsies, and nodular lymphoid hyperplasia was found on at least one examination in each of these patients. In addition, partial to complete mucosal atrophy characterized biopsy specimens from four patients and correlated with steatorrhea with one exception. Although gastric achlorhydria (two patients), minimal to moderate pancreatic insufficiency (two patients), significant intestinal intraluminal bacterial overgrowth (three patients), and Giardia lamblia (five patients) were found, the evidence suggests that the most significant cause of malabsorption in these hypogammaglobulinemic patients is an intestinal mucosal lesion. Reversibility of total villus atrophy and steatorrhea was clearly demonstrated in one patient over the course of a 13-year study.