Intestinal Disaccharidase Deficiency in Adults: Evaluation and Treatment

Area of Science:

• Gastroenterology
• Digestive Health
• Human Physiology

Background:

• Disaccharidase deficiency in adults, affecting enzymes like lactase and sucrase, is more prevalent than previously recognized.
• This deficiency impairs carbohydrate breakdown and absorption, leading to symptoms such as abdominal pain, gas, bloating, and diarrhea, often overlapping with Irritable Bowel Syndrome (IBS).
• Pan-disaccharidase deficiency presents a distinct phenotype with more pronounced weight loss compared to single enzyme deficiencies.

Purpose of the Study:

• To review the diagnosis and treatment of disaccharidase deficiency in adults.
• To highlight the condition's prevalence and its overlap with IBS symptoms.
• To discuss diagnostic methods and therapeutic strategies based on recent literature.

Main Methods:

• Literature review of recent studies on disaccharidase deficiency.
• Discussion of diagnostic approaches including duodenal biopsies and breath testing.
• Analysis of treatment options such as dietary modification and enzyme replacement therapy.

Main Results:

• Disaccharidase deficiency is underdiagnosed in adults with chronic gastrointestinal issues.
• Patients with IBS unresponsive to low FODMAP diets may have undiagnosed disaccharidase deficiency.
• Dietary restriction and enzyme replacement therapy are effective treatments.

Conclusions:

• Disaccharidase deficiency is a significant cause of carbohydrate malabsorption in adults.
• Testing for disaccharidase deficiency should be considered in patients with chronic GI symptoms unresponsive to standard treatments.
• Further research is needed to differentiate disaccharidase deficiency from other gastrointestinal motility disorders.