Celiac disease and dermatitis herpetiformis in Brazilian twins: a long-term follow-up and screening of their relatives

Abstract

Objectives: To investigate three pairs of twins with celiac disease (CD) concerning clinical presentation, diagnostic procedures, and long-follow-up, besides screening CD in their first-degree relatives.

Patients/methods: CD was diagnosed in childhood by endoscopic duodenal biopsy in two monozygotic (MZ) female pairs (A1 and A2, B1 and B2) and one dizygotic (DZ) pair, in which the male (C1) had CD and the female (C2) was negative. The patients had periodic evaluations after a gluten-free diet (GFD) for 16 to 21 years. Nine first-degree relatives were screened by serological tests and when positive, referred for intestinal biopsies.

Results: At diagnosis, all CD patients had the classic presentation. A1/A2: scalloped duodenal mucosa with atrophic areas, Marsh III-b, after 16 years of GFD was antiendomysium antibody (EmA) negative, normal mucosa. B1/B2 at diagnosis: mucosal atrophy, Marsh III-b, after 21 years was EmA negative, decreased folds. Patient C1: decreased folds, Marsh III-b, after 16 years was EmA positive, decreased folds, admitted to gluten ingestion. A1, A2, and B1 presented dermatitis herpetiformis. The father of A1/A2 and the mother of C1/C2 were celiac.

Conclusions: The long-term follow-up of the patients allowed some observations such as the concordance for CD in MZ twins, both in relation to the time of onset and the severity of the disease. Also, the findings of serological, endoscopic, and histological analyses were similar. Dermatitis herpetiformis was present in patients with CD, with partial concordance in MZ twins.