Diverse clinical presentations of celiac disease in the same family
Rodrigo, L.; Riestra, S.; Fuentes, D.; González, S.; López-Vázquez, A.; López-Larrea, C.
Revista Espanola de Enfermedades Digestivas Organo Oficial de la Sociedad Espanola de Patologia Digestiva 96(9): 612-6; 416-9
2004
ISSN/ISBN: 1130-0108 PMID: 15506905 Document Number: 567390
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 58year-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.