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Abstract
Lactose is a disaccharide mainly found in dairy and dairy-containing products which yields D-galactose and D-glucose on hydrolysis. Lactose intolerance (LI) is characterized by abdominal pain, bloating, flatulence, nausea and/or diarrhoea following ingestion of dairy or lactose-containing meals. LI affects about 75% of the world’s population though the condition is poorly recognized despite being of great public health significance in sub-saharan Africa (ssA). The aim of the review is to highlight the epidemiology, types, pathophysiology, genetics, diagnosis, management and prevention of LI. Literature search was performed using Pubmed, Crossref and Google Scholar databases for the terms "lactose," "lactose consumption," "lactose intolerance," and "sub-saharan Africa." The high prevalence of LI in most countries of ssA is a major cause for concern with malnutrition as an independent entity serving as a key contributor, especially among children. Differential diagnosis for LI poses a huge challenge due to disparity in presentation of symptoms among individuals and unavailability of testing in most routine laboratories in ssA. Though wide variation in prevalence of LI exists between countries and regions within ssA, recognizing regional patterns of LI is important to guide prevention, diagnosis and management of the condition. There is also a need for increased laboratory vigilance and preparedness to tackle the silent epidemic, especially in ssA.
References
Alihashemi, M., Younes, A., Talib, U., and Nafee, T. (2020). Lactose intolerance: diagnostic study of choice. Wikipedia, lactose intolerance microchapters wikidoc user. Accessed on 3rd february, 2024.
Anguita-Ruiz, A., Aguilera, C.M., and Gil, Á. (2020). Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies. Nutrients, 12(9):2689. doi: 10.3390/nu12092689.
Aragón, J.J., Hermida, C., Martínez-Costa, O.H., Sánchez, V., Martín, I., Sánchez, J.J., et al. (2014). Noninvasive diagnosis of hypolactasia with 4- Galactosylxylose (Gaxilose): a multicentre, open-label, phase IIB-III nonrandomized trial. J Clin Gastroenterol, 48 (1):29–36. Doi:10.1097/mcg.0b01e318327fb10.
Asfari MM, Sarmini MT, Kendrick K, Hudgi A, Uy P, Sridhar S, et al. (2020). Association between inflammatory bowel disease and lactose intolerance: fact or fiction. Korean J Gastroenterol, 76(4):185-90. doi: 10.4166/kjg.2020.76.4.185.
Bayless TM, Brown E, Paige DM. Lactase non-persistence and lactose intolerance. (2017). Curr Gastroenterol Rep, 19(5):23. doi: 10.1007/s11894-017-0558-9.
Boll, W., Wagner, P., Mantei, N. (1991). Structure of the chromosomal gene and cDNAs coding for lactase-phlorizin hydrolase in humans with adult-type hypolactasia or persistence of lactase. Am. J. Hum. Genet, 48(5):889–902.
Boudreau, F., Rings, E.H.H.M., van Wering, H.M., Kim, R.K., Swain, G.P., Krasinski, S.D., Moffett, J., Grand, R.J., Suh, E.R., Traber, P.G. (2002). Hepatocyte Nuclear Factor-1α, GATA-4, and Caudal Related Homeodomain Protein Cdx2 Interact Functionally to Modulate Intestinal Gene Transcription. J. Biol. Chem, 277(35):31909–31917.
Bridges, M., (2018). Got Lactase: a clinician’s guide to lactose intolerance. Nutrition issues in gastroenterology series #177. Practical Gatroenterology, XLII (7).
Büller, H.A., Grand, R.J. (1990). Lactose Intolerance. Annu. Rev. Med, 41:141–148.
Burger, J., Kirchner, M., Bramanti, B., Haak, W., Thomas, M.G. (2007). Absence of the lactase-persistence-associated allele in early Neolithic Europeans. Proc Natl Acad Sci USA, 104(10):3736-3741.
Campbell, M.C, Ranciaro, A. (2021). Human adaptation, demography and cattle domestication: an overview of the complexity of lactase persistence in Africa. 30(R1):R98-R109.
Catanzaro, R., Sciuto, M., Marotta, F. (2021). Lactose Intolerance—Old and New Knowledge on Pathophysiological Mechanisms, Diagnosis, and Treatment. SN Comprehensive Clinical Medicine, 3:499–509.
Coutis, A.M (2013). Lactose intolerance: causes, effects, diagnosis and symptom control. Gastrointestinal Nursing, 11(2):18-21.
Deng, Y., Misselwitz, B., Dai, N., Fox, M. (2015). Lactose Intolerance in Adults: Biological Mechanism and Dietary Management. Nutrients, 7(9):8020-8035; doi:10.3390/nu7095380.
Enattah, N.S., Sahi, T., Savilahti, E., Terwilliger, J.D., Peltonen, L., Järvelä, I. (2002). Identification of a variant associated with adult-type hypolactasia. Nat. Genet, 30(2):233–237.
Fang, L., Ahn, J.K., Wodziak, D., Sibley, E. (2012). The human lactase persistence-associated SNP -13910*T enables in vivo functional persistence of lactase promoter–reporter transgene expression. Hum. Genet, 131(7):1153–1159.
Fassio F, Facioni MS, Guagnini F. (2018). Lactose maldigestion, malabsorption, and intolerance: a comprehensive review with a focus on current management and future perspectives. Nutrients, 10(11):1599. doi: 10.3390/nu10111599.
Gasbarrini, A., Corazza, G.R., Gasbarrini, G., Montalto, M., Di Stefano, M., Basilisco, G., et al. (2009). Methodology and indications of H2-breath testing in gastrointestinal diseases: the Rome Consensus Conference. Aliment Pharmacol Ther, 29(1):1–49. doi:10.1111/j.13652036.2009.03951.x.
Gerbault P. (2013). The onset of lactase persistence in Europe. Hum Hered, 76(3-4):154–161.
Harvey, C.B., Wang, Y., Darmoul, D., Phillips, A., Mantei, N., Swallow, D.M. (1996). Characterisation of a human homologue of a yeast cell division cycle gene, MCM6, located adjacent to the 50 end of the lactase gene on chromosome 2q21. FEBS Lett. 398:135–140.
Harvey, L., Ludwig, T., Hou, A.Q., Hock, Q.S., Tan, MLN, Osatakul, S., Bindels, J., Muhardi, L. (2018). Prevalence, cause and diagnosis of lactose intolerance in children aged 1–5 years: a systematic review of 1995–2015 literature. Asia Pac J Clin Nutr, 27(1):29-46.
Hassan, H.Y., van Erp, A., Jaeger, M., Tahir, H., Oosting, M., Joosten, L.A.B. and Netea, M.G. (2016). Genetic diversity of lactase persistence in East African populations. BMC Res Notes 9:8. DOI 10.1186/s13104-015-1833-1.
Heine RG, AlRefaee F, Bachina P, De leon JC, Geng L. et al. (2017). Lactose intolerance and gastrointestinal cow’s milk allergy in infants and children - common misconceptions revisited. World Allergy Organ J, 10:41. doi:10.1186/s40413-017-0173-0.
Hermida, C., Corrales, G., Martínez-Costa, O.H., Fernández-Mayoralas, A., Aragón, J.J. (2006). Noninvasive evaluation of intestinal lactase with 4- galactosylxylose: comparison with 3- and 2-galactosylxylose and optimization of the method in rats. Clin Chem, 52(2):270–277.
Heyman, M.B. for the Committee on Nutrition. (2006). Lactose Intolerance in Infants, Children, and Adolescents. Pediatrics, 118(3):1279-1286.
Ingram, CJE., Swallow, DM. (2007). Population Genetics of Lactase Persistence and Lactose Intolerance.
Itan, Y., Powell, A., Beaumont, M.A., Burger, J., Thomas, M.G. (2009). The Origins of Lactase Persistence in Europe. PLoS Comput Biol, 5(8): e1000491.
Jansson-Knodell CL, Krajicek EJ, Savaiano DA, et al. (2020). Lactose intolerance. Mayo Clin Proc; 95:1499–1505. doi:10.1016/j.mayocp.2020.04.036
Krüttli, A., Bouwman, A., Akgül, G., Della Casa, P., Rühli, F., et al. (2014). Ancient DNA Analysis Reveals High Frequency of European Lactase Persistence Allele (T-13910) in Medieval Central Europe. PLoS One, 9(1): e86251.
Kuchay, R.A.H. (2020). New insights into the molecular basis of lactase non persistence/persistence: A brief review. Drug Discov. Ther, 14:1–7.
Kuokkanen, M., Myyniemi, M., Vauhkonen, M., Helske, T., Kaariainen, S., Linnala, A., Harkonen, M., Jarvela, I., Sipponen, P. (2006). A biopsy-based quick test in the diagnosis of hypolactasia in upper gastrointestinal endoscopy. Endoscopy: 38(7): 708-712.
Law, D., Conklin, J., Pimentel, M. (2010). Lactose intolerance and the role of the lactose breath test. Am. J. Gastroenterol, 105(8):1726-1728.
Li. A, Zheng J, Han X et. al. (2023). Lactose Intolerance. International Dairy Journal. 140: 105608.
Marton A, Xue X, Szilagyi A (2012). Meta analysis: the diagnostic accuracy of lactose breath hydrogen or lactose tolerance test for predicting the North European lactase polymorphisms. Aliment Pharmacol Ther, 35(4):429-440.
Mattar,R., Mazo, D.F.de C., Carrilho, F.J. (2012). Lactose Intolerance: diagnosis, genetic, and clinical factors. Clin Exp Gastroenreol, 5:113-121.
Mattar R, Basile-Filho A, Kemp R, dos Santos JS. (2013). Comparison of Quick Lactose Intolerance Test in duodenal biopsies of dyspeptic patients with single nucleotide polymorphism LCT-13910C>T associated with primary hypolactasia/lactase-persistence. Acta Cir Bras. 28(1):7782.
Misselwitz, B., Butter M., Verbeke, K. and Mark, R.F. (2019). Update on lactose malabsorption and intolerance pathogenesis, diagnosis and clinical management. Gut, 68(11):2080-2091.
Mitchelmore, C., Troelsen, J.T., Spodsberg, N., Sjöström, H., Norén, O. (2000). Interaction between the homeodomain proteins Cdx2 and HNF1alpha mediates expression of the lactase-phlorizin hydrolase gene. Biochem. J, 346(2):529–535.
Monsalve-Hernando, C., Crespo, L., Ferreiro, B., Martín, V., Aldeguer, X., Opio, V., et al. (2018). Phase IV noninferiority controlled randomized trial to evaluate the impact on diagnostic thinking and patient management and the test-retest reproducibility of the Gaxilose test for hypolactasia diagnosis. Medicine (Baltimore), 97:e13136.
Montgomery, R.K., Büller, H.A., Rings, E.H.H.M., Grand, R.J. (1991). Lactose intolerance and the genetic regulation of intestinal lactase-phlorizin hydrolase. FASEB J, 5(13):2824–2832.
Montgomery, R.K.; Krasinski, S.D.; Hirschhorn, J.N.; Grand, R.J. (2007). Lactose and Lactase—Who Is Lactose Intolerant and Why? J. Pediatr. Gastroenterol. Nutr, 45 (2):S131–S137.
Naim, H.Y., Lentze, M.J. (1992). Impact of O-glycosylation on the function of human intestinal lactase-phlorizin hydrolase. Characterization of glycoforms varying in enzyme activity and localization of O-glycoside addition. J. Biol. Chem, 267(35):25494–25504.
Naim, H.Y. (2001). Molecular and cellular aspects and regulation of intestinal lactase-phlorizin hydrolase. Histol. Histopathol., 16(2):553–561.
Priehodová, E., Austerlitz, F., ˇCížková, M., Mokhtar, M.G., Poloni, E.S., Cˇ erný, V. (2017). The historical spread of Arabian Pastoralists to the eastern African Sahel evidenced by the lactase persistence -13,915*G allele and mitochondrial DNA. Am. J. Hum. Biol, 29(3):e22950.
Queiroz, A.E.M., Oliveira, A.D., Oliveira C-L. C.R., Araújo, S.L., Najara, B., Moura, S.J. and Rocha, V.M. Why is there a High Prevalence of Lactose Intolerance in Brazil? - A Mini Review. Curr Res Diabetes Obes J, 11(5):555822. DOI:10.19080/CRDOJ.2019.11.555822.
Ranciaro, A., Campbell, M.C., Hirbo, J.B., Ko,W.Y., Froment, A., Anagnostou, P., Kotze, M.J., Ibrahim, M., Nyambo, T., Omar, S.A. (2014). Genetic origins of lactase persistence and the spread of pastoralism in Africa. Am. J. Hum. Genet, 94(4):496–510.
Redvers N. (2019) The Science of the Sacred: Bridging Global Indigenous and Modern Scientific Principles. Penguin Random House, London.
Rossi, M., Maiuri, L., Fusco, M., Salvati, V., Fuccio, A., Auricchio, S., Mantei, N., Zecca, L., Gloor, S., Semenza, G. (1997). Lactase persistence versus decline in human adults: Multifactorial events are involved in down-regulation after weaning. Gastroenterology, 112(5):1506–1514.
Sambasivarao, P., Sunder, M.R.R., Prasanna, L., Reddy, A.K. (2022). Prevalence of Lactose Intolerance in Healthy Subjects of Rural Area. Journal of Cardiovascular Disease Research, 13(7): 610-619.
Scrimshaw, N.S. and Murry, E.B. (1988). The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance. Am. J. Clin. Nutr, 48(4):1079-1159.
Sendino, T., Sandúa, A., Calleja, S., González, Á and Alegre, E. (2020). Lactose tolerance test as an alternative to hydrogen breath test in the study of lactose malabsorption. Adv. Lab. Med, 1(4):20200102.
Shafi, A., Husain, Q. (2022). Intolerance to milk lactose, diagnostic tests and dietary management: a recent update. Avicenna J Med Biochem, 10(1):71-81. doi:10.34172/ajmb.2022.10
Ségurel, L., Bon, C. (2017). On the Evolution of Lactase Persistence in Humans. Annu. Rev. Genom. Hum. Genet, 18:297–319.
Storhaug, C.L.; Fosse, S.K.; Fadnes, L.T. (2017). Country, regional, and global estimates for lactose malabsorption in adults: A systematic review and meta-analysis. Lancet Gastroenterol. Hepatol, 2(10):738–746.
Szilagyi, A., Shrier, I., Chong, G., Je, J.S., Park, S., Heilpern, D, et al. (2009). Lack of effect of lactose digestion status on baseline fecal microflora. Can J Gastroenterol, 23(11):753–759. doi: 10.1155/2009/693794
Szilagyi, A., Malolepszy, P., Hamard, E., Xue, X., Hilzenrat, N., Ponniah, M., et al. (2007). Comparison of a realtime polymerase chain reaction assay for lactase genetic polymorphism with standard indirect tests for lactose maldigestion. Clin Gastroenterol Hepatol, 5:192–196. doi: 10.1016/j.cgh.2006.06.009.
Talia, F.M. and Kiran, K.P (2023). Lactose intolerance. In statPearls [Internet], Treasure Island (FL): StatPearls Publishing.
Troelsen, J.T., Olsen, J., Møller, J., Sjöström, H. (2003). An Upstream Polymorphism Associated with Lactase Persistence has Increased Enhancer Activity. Gastroenterology, 125(6):1686–1694.
Walker CL, Rudan I, Liu L, Nair H, Theodoratou E, Bhutta ZA, O'Brien KL, Campbell H, Black RE. (2013). Global burden of childhood pneumonia and diarrhoea. Lancet, 381(9875): 1405-1416. doi: 10.1016/S0140-6736(13)60222-6.
Wiley, A.S. (2020). Lactose Intolerance. Evol Med Public Health, 1:47–48 doi:10.1093/emph/eoaa006.
Wortmann, A.C., Simon, D., Silveira, TR da. (2013). Molecular analysis of adult-type hypolactasia: a new view into the diagnosis of an old frequent condition. Rev Assoc Med Rio Grande Do Sul, 57: 335-343.
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