Adult-Onset Autoimmune Enteropathy Mimicking Disaccharidase Deficiency

Area of Science:

• Gastroenterology
• Immunology
• Pathology

Background:

• Adult-onset autoimmune enteropathy (AIAE) is a rare immune-mediated disorder causing severe gastrointestinal symptoms.
• Disaccharidase deficiencies involve impaired digestion of sugars due to low enzyme activity.

Observation:

• A patient presented with symptoms mimicking disaccharidase deficiency, including chronic diarrhea and weight loss.
• Initial tests showed reduced levels of key digestive enzymes (lactase, maltase, sucrase, palatinase).

Findings:

• Subsequent duodenal biopsy revealed characteristic features of autoimmune enteropathy: villous atrophy, cell depletion, and inflammation.
• The initial diagnosis of disaccharidase deficiency was revised to autoimmune enteropathy.

Implications:

• This case underscores the diagnostic challenges in distinguishing AIAE from disaccharidase deficiency.
• It highlights the critical role of duodenal biopsies in diagnosing unexplained gastrointestinal conditions.
• Increased awareness and timely tissue sampling can improve patient outcomes for AIAE.