Gastrointestinal involvement in a case of hereditary angioedema: could the early weaning have had a role?

Hereditary angioedema (HAE) is a noninflammatory disorder due to reduced C1-inhibitor level and/or function and characterized by recurrent, circumscribed, and self-limiting episodes of cutaneous and mucous membrane swellings involving different organs. A heterogeneous group of mutations in the C1-inhibitor gene have been found. HAE might present with diverse clinical pictures, even within families with the same mutation, but the cause of this variability is not known yet. We describe the case of type II HAE in a young adult presenting with recurrent abdominal pain for many years, occasionally associated with ascites. We suppose that an early weaning might have influenced his phenotype, making his gastrointestinal tract a "vulnerable organ," in which hereditary angioedema could express itself.

Fecal calprotectin in first-degree relatives of patients with ulcerative colitis.

OBJECTIVES: The pathogenesis of inflammatory bowel disease seems to depend on the combination of genetic and environmental factors. To evaluate genetic susceptibility, one approach is to search for specific markers in apparently unaffected family members of patients. Our aim was to evaluate fecal calprotectin concentrations (FCCs) in first-degree relatives of patients with ulcerative colitis (UC). PATIENTS: Fifty-five patients with UC and 167 healthy first-degree relatives were recruited; 38 of the patients' spouses were also enrolled. One hundred fifty healthy subjects participated as the control group. METHODS: FCCs were determined by ELISA. FCCs were compared among the groups by Kruskal-Wallis analysis of variance (ANOVA) test followed by Mann-Whitney U test. RESULTS: Significantly greater FCCs were found in first-degree relatives of patients with UC (76.0 [34.7-129.6] microg/g) as compared with controls (31.6 [17.0-45.0]) (P < 0.0001). Fecal calprotectin levels in patients with UC (256.0 [153.0-356.0] microg/g) were significantly higher as compared with first-degree relatives, spouses (43.8 [18.6-89.0] microg/g), and controls (P < 0.0001 for all comparisons). FCC of relatives was significantly higher than FCC of spouses (P = 0.01). FCC of spouses had a significantly higher FCC with respect to controls (P = 0.01). CONCLUSIONS: First-degree relatives of patients with UC had greater FCC values and could have a subclinical intestinal inflammation. It needs to be clarified if this finding is the consequence of genetic predisposition, of environmental factors, or the interaction of both, and if relatives with high FCC have a greater risk of developing the disease.