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Hereditary gastrogenic lactose intolerance — Clinical Guidelines

Overview

Hereditary gastrogenic lactose intolerance, primarily due to lactase deficiency, results in the inability to digest lactose leading to gastrointestinal symptoms upon dairy consumption. This condition is often genetically determined, with specific polymorphisms like -13910 C>T in the LCT gene playing a significant role 1 4.

Diagnosis

Clinical assessment through symptom evaluation and dietary history.

Non-invasive tests: hydrogen breath test.

Genetic testing for LCT gene polymorphisms, particularly -13910 C>T and G/A 22018 substitutions 4.

Management

First-line: Lactose-free diet to eliminate symptoms 5.

Adjunctive: Probiotic treatment and vitamin B6 supplementation may help alleviate symptoms by modulating gut microbiota and metabolism 3.

Consider vitamin D and calcium supplementation if deficiencies are identified, especially in populations with specific genetic markers 1.

Special Populations

Pediatrics: Severe cases may present with additional complications such as metabolic acidosis and cataracts 8.

Comorbidities: No specific management adjustments noted for elderly or comorbid conditions based on provided abstracts.

Key Recommendations

Diagnose lactose intolerance clinically and confirm with non-invasive tests like the hydrogen breath test (Evidence: Moderate 4).

Implement a lactose-free diet as the primary treatment (Evidence: Strong 5).

Consider supplementation with probiotics and vitamin B6 for symptom management in selected cases (Evidence: Moderate 3).

Screen for and address vitamin D and calcium deficiencies, particularly in individuals with specific LCT gene polymorphisms (Evidence: Moderate 1).

Monitor pediatric patients closely for severe complications such as metabolic acidosis and cataracts (Evidence: Weak 8).

References

1 Kowalówka M, Kosewski G, Lipiński D, Przysławski J. A Comprehensive Look at the -13910 C>T LCT Gene Polymorphism as a Molecular Marker for Vitamin D and Calcium Levels in Young Adults in Central and Eastern Europe: A Preliminary Study. International journal of molecular sciences 2023. link 2 Cano A, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Chumillas-Calzada S et al.. Vitamin C and folate status in hereditary fructose intolerance. European journal of clinical nutrition 2022. link 3 Vitellio P, Celano G, Bonfrate L, Gobbetti M, Portincasa P, De Angelis M. Effects of . Nutrients 2019. link 4 Perino A, Cabras S, Obinu D, Cavalli Sforza L. Lactose intolerance: a non-allergic disorder often managed by allergologists. European annals of allergy and clinical immunology 2009. link 5 Bhatnagar S, Aggarwal R. Lactose intolerance. BMJ (Clinical research ed.) 2007. link 6 Allen HJ, Ahmed H, Sharma A. Isolation of lactose-binding lectins from axolotl (Ambystoma mexicanum). Comparative biochemistry and physiology. B, Comparative biochemistry 1992. link90297-5) 7 Oberhaensli RD, Rajagopalan B, Taylor DJ, Radda GK, Collins JE, Leonard JV et al.. Study of hereditary fructose intolerance by use of 31P magnetic resonance spectroscopy. Lancet (London, England) 1987. link91419-x) 8 Hirashima Y, Shinozuka S, Ieiri T, Matsuda I, Ono Y, Murata T. Lactose intolerance associated with cataracts. European journal of pediatrics 1979. link

Hereditary gastrogenic lactose intolerance