Celiac disease in patients with sporadic and inherited cardiomyopathies and in their relatives

Area of Science:

• Cardiology
• Gastroenterology
• Immunology

Background:

• Cardiomyopathy, particularly dilated cardiomyopathy (DCM), can be inherited or sporadic.
• Celiac disease (CD) is an autoimmune disorder triggered by gluten.
• Investigating co-morbidities in DCM is crucial for understanding underlying mechanisms.

Purpose of the Study:

• To determine the prevalence of celiac disease (CD) in patients with familial and sporadic dilated cardiomyopathy (DCM).
• To assess CD and related autoantibodies in relatives of DCM patients.
• To explore potential immune-mediated links between CD and DCM.

Main Methods:

• Screened 238 DCM patients, 418 relatives, and 2000 controls for anti-human-tissue-transglutaminase (tTG) and anti-endomysial antibodies (AEAs).
• Performed HLA-DQ2-DQ8 testing on tTG-positive individuals.
• Conducted duodenal biopsies for IgA-tTG-positive DCM patients.

Main Results:

• Twenty-six subjects (2.1% of DCM patients, 0.7-7.1% of relatives, 0.8% of controls) tested positive for tTG antibodies.
• Biopsy-proven CD was diagnosed in five DCM patients, four of whom had iron-deficiency anemia.
• In familial cases, CD did not consistently co-segregate with DCM.

Conclusions:

• A higher prevalence of CD in DCM patients and tTG-positive relatives suggests shared immune-mediated pathways in some cases.
• CD appears associated with, but not causative of, DCM, especially in familial forms.
• Further research is needed to elucidate the relationship between CD and DCM.