Lactose intolerance causes

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Lactose Intolerance Microchapters


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [2]


The most common cause of lactose intolerance is acquired primary lactase deficiency. Less common causes of lactose intolerance include Small intestinal bacterial overgrowth, Infections such as giardiasis, Drug induced enteritis, Celiac sprue, Tropical sprue, and Whipple's disease.


Life-threatening Causes

  • Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of lactose intolerance.

Common Causes

The most common cause of lactose intolerance is

  • Acquired primary lactase deficiency (lactase nonpersistence, adult-type hypolactasia)[1][2]

Less Common Causes

Less common causes of lactose intolerance include:

Genetic Causes

  • Lactose intolerance is caused by a mutation in the lactase-phlorizin hydrolase (LPH) gene.[9][10][11]

Causes by Organ System

Cardiovascular No underlying causes
Chemical/Poisoning No underlying causes
Dental No underlying causes
Dermatologic Celiac sprue,
Drug Side Effect Drug induced enteritis,
Ear Nose Throat No underlying causes
Endocrine Carcinoid syndrome, Diabetic gastropathy, Kwashiorkor, Zollinger-Ellison syndrome
Environmental No underlying causes
Gastroenterologic Acquired primary lactase deficiency, Small intestinal bacterial overgrowth, Drug induced enteritis, Radiation induced enteritis, HIV enteropathy, Tropical sprue, Celiac sprue, Whipple's disease, Gastroenteritis, Carcinoid syndrome, Cystic fibrosis, Diabetic gastropathy,

Kwashiorkor, Zollinger-Ellison syndrome

Genetic Celiac sprue, lactase-phlorizin hydrolase (LPH) gene mutation
Hematologic No underlying causes
Iatrogenic Radiation induced enteritis, Chemotherapy 
Infectious Disease Infections such as giardiasis, HIV enteropathy, Tropical sprue, Whipple's disease,
Musculoskeletal/Orthopedic No underlying causes
Neurologic No underlying causes
Nutritional/Metabolic Celiac sprue, Cystic fibrosis,
Obstetric/Gynecologic No underlying causes
Oncologic Carcinoid syndrome, Zollinger-Ellison syndrome,
Ophthalmologic No underlying causes
Overdose/Toxicity No underlying causes
Psychiatric No underlying causes
Pulmonary Cystic fibrosis,
Renal/Electrolyte No underlying causes
Rheumatology/Immunology/Allergy Celiac sprue
Sexual No underlying causes
Trauma No underlying causes
Urologic No underlying causes
Miscellaneous No underlying causes

Causes in Alphabetical Order

List the causes of the disease in alphabetical order.


  1. Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Järvelä I (2002). "Identification of a variant associated with adult-type hypolactasia". Nat. Genet. 30 (2): 233–7. doi:10.1038/ng826. PMID 11788828.
  2. Tishkoff SA, Reed FA, Ranciaro A, Voight BF, Babbitt CC, Silverman JS, Powell K, Mortensen HM, Hirbo JB, Osman M, Ibrahim M, Omar SA, Lema G, Nyambo TB, Ghori J, Bumpstead S, Pritchard JK, Wray GA, Deloukas P (2007). "Convergent adaptation of human lactase persistence in Africa and Europe". Nat. Genet. 39 (1): 31–40. doi:10.1038/ng1946. PMC 2672153. PMID 17159977.
  3. Srinivasan R, Minocha A (1998). "When to suspect lactose intolerance. Symptomatic, ethnic, and laboratory clues". Postgrad Med. 104 (3): 109–11, 115–6, 122–3. doi:10.3810/pgm.1998.09.577. PMID 9742907.
  4. Misselwitz B, Pohl D, Frühauf H, Fried M, Vavricka SR, Fox M (2013). "Lactose malabsorption and intolerance: pathogenesis, diagnosis and treatment". United European Gastroenterol J. 1 (3): 151–9. doi:10.1177/2050640613484463. PMC 4040760. PMID 24917953.
  5. Swagerty DL, Walling AD, Klein RM (2002). "Lactose intolerance". Am Fam Physician. 65 (9): 1845–50. PMID 12018807.
  6. Mishkin B, Yalovsky M, Mishkin S (1997). "Increased prevalence of lactose malabsorption in Crohn's disease patients at low risk for lactose malabsorption based on ethnic origin". Am. J. Gastroenterol. 92 (7): 1148–53. PMID 9219788.
  7. Saarela T, Similä S, Koivisto M (1995). "Hypercalcemia and nephrocalcinosis in patients with congenital lactase deficiency". J. Pediatr. 127 (6): 920–3. PMID 8523189.
  8. Mobassaleh M, Montgomery RK, Biller JA, Grand RJ (1985). "Development of carbohydrate absorption in the fetus and neonate". Pediatrics. 75 (1 Pt 2): 160–6. PMID 2578223.
  9. Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Järvelä I (2002). "Identification of a variant associated with adult-type hypolactasia". Nat. Genet. 30 (2): 233–7. doi:10.1038/ng826. PMID 11788828.
  10. Kuokkanen M, Enattah NS, Oksanen A, Savilahti E, Orpana A, Järvelä I (2003). "Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia". Gut. 52 (5): 647–52. PMC 1773659. PMID 12692047.
  11. Rasinperä H, Savilahti E, Enattah NS, Kuokkanen M, Tötterman N, Lindahl H, Järvelä I, Kolho KL (2004). "A genetic test which can be used to diagnose adult-type hypolactasia in children". Gut. 53 (11): 1571–6. doi:10.1136/gut.2004.040048. PMC 1774274. PMID 15479673.

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