Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function

Abstract

Background Congenital sucrase isomaltase deficiency (CSID) is in general a very rare disease. However, 2–3% of the Greenlandic population are homozygous (HO) carriers of an Arctic-specific loss-of-function (LoF) variant in the sucrase-isomaltase (SI) encoding gene, causing CSID. The condition is characterized by gastrointestinal symptoms such as stomachache, diarrhea, and weight loss when consuming sucrose, the most common dietary sugar. However, the awareness of the condition in the population and the healthcare system seems to be limited, potentially leading to a higher healthcare burden. Hence, we aimed to investigate whether HO-carriers visit the healthcare system more with gastrointestinal symptoms compared to the control groups by using registry data. Methods We performed a case–control study identifying cases and controls using genotype information from the 1999–2001 and 2005–2010 Greenlandic health population cohorts. The cases were defined as HO LoF SI -carriers and controls were defined as non-carriers and were matched (1:1) on sex, age, place of residence, and European genetic admixture. We used electronic medical records to assess the number of electronic medical record contacts (EMRc) related to gastrointestinal symptoms and the number of gastrointestinal-related diagnostic procedures. Results A total of 80 HO-carriers and 80 non-carriers were included. The HO-carriers had 19% more EMRc related to gastrointestinal symptoms (IRR, 1.19, 95% CI [1.02;1.40], p=0.02) and had a 41% higher incidence of gastrointestinal related diagnostic procedures compared to controls (IRR, 1.41, 95% CI [1.05–1.92], p=0.02). Only one HO-carrier was aware of the condition according to the electronic medical records. Conclusion HO-carriers of the LoF SI- variant had both significantly more gastrointestinal-related EMRc and significantly more diagnostic procedures conducted due to gastrointestinal symptoms. Only one HO-carrier was aware of the condition. Given the high prevalence of HO-carriers in the Greenlandic population, we anticipate that diagnosing more patients with CSID and providing dietary advice could potentially reduce symptom burden and healthcare visits among HO-carriers.

Personal experiences of living with sucrose intolerance and attitudes towards genetic research in Greenland - a user study

“…It could have been interesting to compare the participants with those who did not participate to investigate potential participation bias, i.e. if participants had more symptoms than non-participants or to track their hospital contacts as other studies have done [ 1 , 4 ] this was outside the scope of this qualitative study and not possible due to the participants general rights of data protection [ 35 ]. It could also be a limitation that all participants were selected from former national health survey, and therefore might have positive attitudes to participating in health research generally.…”

“…symptoms similar to irritable bowel syndrome (IBS) [ 10 ]. This is most likely explaining, why Greenlandic homozygous SI carriers have more gastrointestinal-related health-care contacts and diagnostic procedures compared to other individuals in Greenland [ 1 , 3 , 4 , 10 ]. Further, international research has identified that of people with IBS, sucrose intolerance was present in 35% of patients, and 64% had diarrhoea, and 45% had abdominal pain [ 10 ].…”