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Revista Española de Enfermedades Digestivas
Print version ISSN 1130-0108
Abstract
RODRIGO, L. et al. Diverse clinical presentations of celiac disease in the same family. Rev. esp. enferm. dig. [online]. 2004, vol.96, n.9, pp.612-619. ISSN 1130-0108.
We performed a family study to evaluate a total of 34 extended family members (8 siblings, 23 children and nephews, and 3 grandchildren) of an adult patient with celiac disease (CD), a 58- year-old male with severe neurologic involvement manifested as myoclonias. We found 3 other members affected with CD (a 44-year old sister, a 39-year old niece, and a 26-year old nephew). Two of them were completely asymptomatic and all had hypertransaminasemia. All exhibited a villous atrophy pattern of the duodenal mucosa (1 mild, 1 moderate, 1 severe). Overall family involvement was 11.8% (4/14). We wish to emphasize the need to perform extended family studies when diagnosing a case of CD, since risk is not restricted to only first-degree relatives.
Keywords : Clinical forms; Celiac disease; Familial study.