Congenital lactase deficiency

lactose intolerance: Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose.

Endpoint definition

Long name Congenital lactase deficiency
Hospital Discharge registry ICD-10: E730
Cause of Death registry ICD-10: E730
Level in the ICD-hierarchy 4
First defined in version DF2
Latin name Deficientia lactasae congenita

Summary Statistics

Key figures

All Female Male
Number of individuals 33 23 10
Unadjusted prevalence (%) 0.02 0.02 0.01
Mean age at first event (years) 36.02 34.95 38.49
Case fatality at 5-years (%) 0.00 0.00 0.00

Longitudinal metrics

All Female Male
Median nb. of events per indiv. 1.0 1.0 1.0
Recurrence at 6 months (%) 12.12 13.04 10.00

Survival analyses between endpoints


before Congenital lactase deficiency
after Congenital lactase deficiency

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Drugs most likely to be purchased after Congenital lactase deficiency