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Congenital Sucrase-Isomaltase Deficiency (CSID)

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ANMC Congenital Sucrase-Isomaltase Deficiency (CSID) Diagnosis and Treatment Guidelines Updated 8/19/20 Background Information1 Symptoms1 Diagnosis¹ 2 • It is estimated that 3-10% of Alaska Native people • Osmotic diarrhea • Malnutrition • Genetic screen (blood) through have CSID, but exact prevalence is unknown • Abdominal pain & distention • Failure to thrive Fulgent Genetics • There is a mutation present in people from Arctic • Click here for test requisition and regions that results in a complete lack of enzyme Symptoms vary between affected individuals depending on here for consent form activity the amount of sucrose and/or starch consumed and other • In the Test Requested box write • Higher prevalence of CSID is seen along the unknown factors “SI gene c.273_274delAG western/northern coasts of the state, especially Other Considerations p.Gly92Leufs*8” Yup’ik and Inupiaq people Can onset of symptoms be traced back to introduction of • Cost: $200 • CSID is an autosomal recessive (homozygous) table foods? Breast and most formula fed infants are • 2-3 week turnaround for results disorder, but heterozygote carriers may also be asymptomatic • symptomatic Is there a family history of intolerance or “allergy” to Consider full sequencing of SI gene if • ANTHC has a CSID Program to provide education sugar? known mutation test is negative and and support for patients, families, and providers* Are symptoms worse when eating store bought foods symptoms still indicate possible CSID • • Click here to access the Pocket Guide to Alaska versus Alaska Native traditional foods? Notify CSID Program Coordinator with Native Pediatric Diagnoses positive results Nutrition Infant Formulas Medication Management3 Prescribing Sucraid® • Avoid and/or limit sucrose (table sugar) and • Breast milk and standard • Sacrosidase (Sucraid®): enzyme replacement • If prescribing for starch lactose based formulas, for sucrase patients located in the • The Alaska Native traditional diet is excellent such as Similac® • Taken with each meal and snack that Anchorage Service Unit for managing symptoms of CSID since it is Advance® or Enfamil® contain sucrose click here for naturally low in sucrose and starch Infant, are typically • Dosage is weight dependent instructions • Refer patient to a Registered Dietitian tolerated • Requires refrigeration • If prescribing for • If no RD available, refer to CSID • Most other formulas • Most private insurance covers patients in the Program Coordinator contain sucrose and/or Sucraid® Utqiagvik, Kotzebue, • CSID education materials for starch and are generally • For Medicaid or IHS recipients, refer and Nome Service Unit patients/families are available. Contact the not tolerated patient to ANTHC’s Tribally Sponsored check for Sucraid® CSID Program Coordinator for copies. Health Insurance Program (TSHIP). See availability with the TSHIP section local pharmacy *For questions or assistance, contact ANTHC’s CSID Outreach and Education Coordinator at 729-3628 Tribally Sponsored Health Insurance Program (TSHIP) REFERENCES: 1. Marcadier, J., Boland, M., Scott, C., Issa, K., Wu, Z., McIntyre, A., Hegele, R., Geraghty, • ANTHC partners with THOs to sponsor eligible individuals for health M. and Lines, M. (2014). Congenital sucrase–isomaltase deficiency: identification of a common Inuit insurance coverage founder mutation. Canadian Medical Association Journal, 187(2), pp.102-107. 2. Treem, W. (2012). Clinical Aspects and Treatment of Congenital Sucrase-Isomaltase Deficiency. Journal of Pediatric • Covers the cost of Sucraid® Gastroenterology and Nutrition, 55, pp.S7-S13. 3. Sucraid for Healthcare Providers. (2018). Sucraid® - • 2-6 week period between enrollment and effective coverage Information for Healthcare Providers. [online] Available at: https://www.sucraid.net/hcp/ [Accessed • Does not provide retroactive coverage 10 Sep. 2018]. • Refer patient to TSHIP by calling 729-2935. A Health Benefits Specialist will work with the patient for eligibility verification and enrollment.
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