The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency

Qual Life Res. 2021 Aug;30(8):2329-2338.

PMID: 33772704

Heather Smith, Beverly Romero, Emuella Flood

Highlights: This study sought to better understand the experience of patients with congenital sucraseisomaltase deficiency (CSID) prior to, during, and after their diagnosis and its subsequent treatment with sacrosidase.

Abstract

Purpose: Congenital sucrase-isomaltase deficiency is a rare hereditary condition marked by a lack of the sucrase-isomaltase (SI) enzyme complex within the small intestine's brush border membrane. The SI enzyme is synthesized incorrectly and/or transported incorrectly as a result of mutations in the SI gene. Sucrase activity is usually low in CSID patients, although isomaltase activity can range from non-existent to almost normal. The goal of this study was to learn more about the experiences of CSID patients before, during, and after their diagnosis and treatment with sacrosidase.

Methods: This was a cross-sectional interview study conducted in conjunction with a longitudinal, observational study of CSID patients in the United States who had been prescribed sacrosidase and had been taking it for at least three months. Both children and adults were enrolled in the observational study.

Results: This qualitative interview study looked into the pre-, during, and post-diagnosis experiences of 43 adult and pediatric CSID patients (n = 8 adults and n = 35 children/adolescents). Given the wide range of more commonly understood gastrointestinal (GI) disorders, the findings suggest that a CSID diagnosis is particularly troublesome. Participants reported significant improvements in symptoms and health-related quality of life (HRQL) following diagnosis and treatment with sacrosidase, however symptoms persist that interfere with daily life, indicating areas of potential unmet need.

Conclusion: CSID education for physicians may help to improve the overall diagnosis experience. Because this is the first study of its kind in CSID, more qualitative and quantitative research will be needed to better understand the impact of HRQL and unmet requirements in this population, as well as how to best satisfy those needs.

Keywords: CSID, Congenital Sucrase-Isomaltase Deficiency, HRQL, Sacrosidase