Malabsorption Markers – Definition & Diagnostics
Malabsorption markers are laboratory values that indicate impaired nutrient absorption in the intestine. They help doctors detect malabsorption syndromes at an early stage.
Things worth knowing about "Malabsorption markers"
Malabsorption markers are laboratory values that indicate impaired nutrient absorption in the intestine. They help doctors detect malabsorption syndromes at an early stage.
What are malabsorption markers?
Malabsorption markers are diagnostic laboratory parameters that indicate the small or large intestine is unable to adequately absorb nutrients, vitamins, minerals, or other substances. This condition is referred to as malabsorption. It may affect individual nutrients or occur in a generalised form, potentially influencing many organ systems throughout the body.
Causes of malabsorption
Malabsorption can be triggered by a wide range of diseases and conditions, including:
- Coeliac disease: an immune-mediated condition in which gluten damages the intestinal lining
- Crohn's disease: a chronic inflammatory bowel disease
- Chronic pancreatitis: damage to the pancreas with reduced enzyme production
- Lactase deficiency: absent or insufficient enzyme activity to break down lactose
- Short bowel syndrome: following surgical removal of intestinal sections
- Small intestinal bacterial overgrowth (SIBO)
- Damage caused by radiation therapy or certain medications
Commonly used malabsorption markers
Depending on the suspected cause, different markers are measured. The most important ones include:
Fat malabsorption markers
- Faecal fat determination (steatocrit / stool fat content): elevated fat content in the stool indicates impaired fat absorption
- Faecal elastase-1: a low value points to exocrine pancreatic insufficiency
Carbohydrate malabsorption markers
- Hydrogen breath test: measures hydrogen production after a sugar load and detects lactose or fructose intolerance as well as bacterial overgrowth
- Blood glucose test after lactose loading: an insufficient rise in blood sugar indicates lactase deficiency
Vitamin malabsorption markers
- Serum vitamin B12: reduced in small intestinal disorders or gastric disease
- Serum folate (folic acid): deficiency is common in coeliac disease and inflammatory bowel conditions
- Vitamin D (25-OH vitamin D): reduced with fat malabsorption
- Vitamin A and vitamin E: low levels observed in pronounced malabsorption
Mineral and trace element markers
- Serum calcium, magnesium, zinc, and iron: frequently reduced in chronic malabsorption
- Ferritin and transferrin saturation: indicators of impaired iron absorption, for example in coeliac disease
General serum markers
- Albumin and prealbumin: reflect protein deficiency due to reduced absorption or increased intestinal loss
- Cholesterol: may be reduced in severe malabsorption
- Prothrombin time / INR: prolonged clotting time due to vitamin K deficiency in fat malabsorption
Specific immunological and inflammatory markers
- Tissue transglutaminase antibodies (tTG-IgA): screening marker for coeliac disease
- Faecal calprotectin: elevated in inflammatory bowel diseases that lead to malabsorption
- Faecal alpha-1-antitrypsin: indicates protein-losing enteropathy
Diagnosis and clinical relevance
The selection of markers depends on the clinical presentation. Typical symptoms that justify testing for malabsorption markers include:
- Chronic diarrhoea or voluminous, greasy stools (steatorrhoea)
- Unintentional weight loss
- Bloating and abdominal pain after eating
- Fatigue, weakness, and difficulty concentrating
- Signs of deficiency such as pale skin, brittle nails, or bone and muscle pain
Diagnosis is established through a combination of medical history, physical examination, laboratory testing, and if necessary, imaging procedures or intestinal endoscopy with tissue sampling (biopsy).
Treatment
Therapy is directed at the underlying condition:
- For coeliac disease: strict gluten-free diet
- For pancreatic insufficiency: supplementation with digestive enzymes (pancreatin)
- For nutrient deficiencies: targeted supplementation of vitamins and minerals
- For bacterial overgrowth: antibiotic therapy
- For inflammatory bowel disease: anti-inflammatory drugs or immunosuppressants
Regular monitoring of malabsorption markers is important to evaluate treatment success and to detect deficiency states in a timely manner.
References
- German Society for Gastroenterology, Digestive and Metabolic Diseases (DGVS): Guideline on the Diagnosis and Treatment of Coeliac Disease (2021).
- Kasper, D.L. et al. (eds.): Harrison's Principles of Internal Medicine, 21st edition, McGraw-Hill (2022).
- Green, P.H.R. & Cellier, C.: Celiac Disease. New England Journal of Medicine, 357(17):1731-1743 (2007).
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