Diagnóstico de Intolerancia a la Lactosa en Adultos: Rendimiento Comparativo de la Clínica, Test Espiratorio y Test Genético

Antonio Rollan, Cecilia Vial, Soledad Quesada, Karena Espinoza, Mary Hatton, Alonso Puga, Gabriela Repetto




Background: Genetically programmed adult-type hypolactasia affects 56% of Chilean population. Ideally, diagnosis should be confirmed. Aim: To compare diagnostic yield of genetic test, hydrogen (H2) expiratory test and a validated symptomatic structured survey (SS). Material and methods: Patients submitted to H2 test answered a historic (anamnestic) and current SS (after the ingestion of 25 g of lactose). A blood sample was obtained for determination of genetic polymorphisms C/T_13910, C/G_13907 and G/A_22018 by polymerase chain reaction. The gold standard for diagnosis of lactose intolerance was the agreement of at least two of three tests. Results: Sixty-one participants aged 39 ± 12 years (21 males), were studied. Anamnestic SS was diagnostic of LI in all cases (score ?7), while current SS detected LI in 27/61(46%). H2 test (an increase ? 15 ppm after ingestion of 25 g of lactose ) showed LI in 31/61 (51%). The locus C/G_13907 showed no polymorphism and locus G/A_22018 was in complete linkage disequilibrium with C/T_13910. Genotype C/C_13910, associated to hypolactasia, was present in 30/58(52%). According to the gold-standard, 32/61(52.5%) patients were diagnosed as LI. Sensitivity and specificity were, respectively, 79% and 69% for current SS, 93% and 93% for H2 test  and 97% and 93% for the genetic test. The last two showed a positive  likelihood ratio (LR) > 10 and a negative LR < 0.1, figures within the range considered clinically useful. Conclusions: Genotype C/C_13910 is responsible for hypolactasia in this population. Anamnestic report of symptoms after milk ingestion and symptoms after lactose ingestion, are not accurate enough. H2 and genetic tests are simple and similarly accurate to diagnose lactose intolerance in adults. 

Palabras clave

Genetic Testing; Lactose Intolerance; Lactose Tolerance Test; Questionnaires