Diverse clinical presentations of celiac disease in the same family.
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.
Rodrigo
L
L
Service of Digestive Diseases and Immunology, Hospital Central de Asturias, Oviedo, Spain. lrodrigos@terra.es
Riestra
S
S
Fuentes
D
D
González
S
S
López-Vázquez
A
A
López-Larrea
C
C
D000328:Adult; D001323:Autoantibodies / Q000097:blood; D002446:Celiac Disease / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D004386:Duodenum / Q000276:immunology / Q000473:pathology; D005260:Female; D005773:Gastroscopy; D020022:Genetic Predisposition to Disease; D006801:Humans; D007413:Intestinal Mucosa / Q000276:immunology / Q000473:pathology; D008111:Liver Function Tests; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D001323:Autoantibodies