Celiac disease in siblings with Pearson syndrome

Area of Science:

• Genetics
• Gastroenterology
• Mitochondrial Diseases

Background:

• Pearson syndrome (PS) is a rare mitochondrial disorder.
• Characterized by sideroblastic anemia and exocrine pancreas deficiency due to mitochondrial DNA abnormalities.
• Chronic diarrhea is a common symptom, often managed with pancreatic enzyme replacement therapy.

Observation:

• Two siblings diagnosed with Pearson syndrome presented with persistent chronic diarrhea despite enzyme therapy.
• Diagnostic investigations revealed the co-occurrence of celiac disease (CD) in both patients.
• Symptoms resolved completely after initiating a gluten-free diet.

Findings:

• This case series highlights the first reported instances of Pearson syndrome coexisting with celiac disease in the same individuals.
• The study demonstrates that chronic diarrhea in PS patients may sometimes be attributable to undiagnosed celiac disease.
• Successful treatment of celiac disease led to the resolution of gastrointestinal symptoms in the affected siblings.

Implications:

• Suggests a need for routine screening of celiac disease in patients diagnosed with Pearson syndrome.
• Early diagnosis and management of celiac disease can significantly improve the quality of life for individuals with PS.
• Highlights the complex interplay between genetic mitochondrial disorders and autoimmune conditions.