CSID Outreach and Education Coordinator Community Health Services ANTHC Congenital SucraseIsomaltase Deficiency CSID among Alaska Native People Disclosure ANTHC CSID Program and Coordinator position received past support through a grant from QOL Medical LLC ID: 933948
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Slide1
Slide2Slide3Presented by:
Claire Siekaniec, MS, RD, LD -
CSID Outreach and Education CoordinatorCommunity Health Services, ANTHC
Congenital Sucrase-Isomaltase Deficiency (CSID) among Alaska Native People
Slide4Disclosure
ANTHC CSID Program and Coordinator position received past support through a grant from QOL Medical, LLC.
Slide5Objectives
Increase awareness of CSID among Alaska Native people
Identify symptoms of CSIDUnderstand management of CSID symptomsDiscuss ANTHC’s CSID Outreach and Education Program
Slide6Outline
Background
SymptomsGeneticsDiagnosisPrevalence
Management
Nutrition therapy
Medication therapy
ANTHC CSID Program
Slide7Congenital Sucrase-Isomaltase Deficiency (CSID)
Genetic disorder - affects ability to digest certain sugars
Polysaccharides – starch, glycogenDisaccharides –
sucrose
,
maltose
, lactose
Monosaccharides – glucose, fructose, galactose
Digestive enzymes break down poly and disaccharides to monosaccharides
Slide8Sucrase-isomaltase
(SI) is a disaccharidase on the brush border membrane of the small intestines
SucraseBreaks down sucrose and maltoseSucrose = fructose + glucoseIsomaltase
Breaks down isomaltose and
maltose
Maltose = glucose + glucose
In
CSID, activity of the SI enzyme is absent or
reduced
Digestive Enzyme Activity
Slide9CSID Symptoms
When disaccharides are not broken
down:Bacteria feed off the sugar in the colon causing fermentation
Undigested sugars retain water causing osmotic diarrhea
Slide10Common symptoms:
Watery diarrhea
Bloating/gasAbdominal painSevere symptoms may lead to malnutrition or failure to thrive
CSID Symptoms
Slide11Possible Indicators of CSID
History of watery diarrhea
that can be traced to introduction of table foodsFamily history of “allergy” or intolerance to sugar
Symptoms
appear when eating more store bought foods and less Alaska Native traditional foods
Slide12Autosomal recessive (homozygous)
Frameshift mutation that disrupts production or impairs function of enzyme
Carriers (heterozygous) may show symptomsCSID Genetics
Image Attribution:
Domaina
, Kashmiri and SUM1, CC BY-SA 3.0 <https://creativecommons.org/licenses/by-sa/3.0>, via Wikimedia Commons
Slide13CSID Genetics
Title:
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutationAuthors: Marcadier JL, Boland M, Scott R, et al.
Published
in Canadian Medical Association Journal in 2015
Results and Interpretation:
identification of a homozygous, frameshift mutation,
SI c.273_274delAG
(p.Gly92Leufs*8
), responsible for high prevalence of CSID among Inuit people.
Slide14CSID Testing
Genetic testing through Fulgent Genetics
Blood sample + test requisition form + testing consent
Full sequencing of SI gene
Cost: $895
K
nown mutation
C
ost: $200
Other testing methods
Intestinal biopsy:
disaccharidase
assay
Breath tests
Slide15Breath Test
Carbon-13 sucrose breath test
8 hours fasting20g sucroseSeries of 4 small tubes the patient blows into over a period of 90 minutes A healthcare professional can order the test by calling
1-800-705-1962
Slide160.2% of North Americans of European ancestry
5-10% of Greenland/Canadian Inuit people
Unknown at this time in Alaska Native peopleCSID Prevalence
Image: Krauss
, Michael, Gary Holton, Jim Kerr, and Colin T. West. 2011. Indigenous Peoples and Languages of Alaska. Fairbanks and Anchorage: Alaska Native Language Center and UAA Institute of Social and Economic Research. Online:
http://www.uaf.edu/anla/map
Slide17Management of CSID
Slide18CSID Management
Goals:
Minimize symptomsImprove quality of life
Promote physical
growth
for infants and
children
Slide19Modify diet
- Avoid or limit foods
high in sucrose and starchAlaska Native t
raditional
f
oods are naturally low in sucrose and starch making them perfect for managing CSID
Nutrition and CSID
Image Credits: ANTHC Health Promotion staff
Slide20Changes in Eating Patterns
May be increase in sedentary lifestyle
May be decrease or loss of traditional knowledgeMove out of villageBusy lives (working, other priorities)Increase in store bought foods with cash economyGas is expensive for travel/hunting
Climate change
Slide21Store bought foods are often high in sucrose and/or starch
Can be difficult to manage CSID symptoms with higher intake of foods that contain sucrose and starch
Leads to poor nutrition, failure to thrive, and/or poor quality of life
Nutrition and CSID
Slide22Fruits
and
VegetablesMany fruits and vegetables contain sucrose – use food guides to help determine tolerances DairyMost plain/unsweetened dairy products are tolerated
Fats and Oils
Most are tolerated
Nutrition and CSID
Slide23Protein
Most animal protein sources are tolerated
Starchy plant based proteins such as beans/lentils/nuts may not be toleratedStarchesIndividual tolerance variesProcessed foods often contain sucrose and starch
Read ingredient labels
Nutrition and CSID
Slide24Infants
Breast milk and standard, lactose-based formulas are usually tolerated
Most other formulas contain sucrose and/or starchCarbohydrate free (RCF ®) formula available – not nutritionally complete
Children
Nutritional supplements (Pediasure
®
, Ensure
®
, etc.) all contain sucrose and/or starch as carbohydrate source
Infant Formula & Supplements
Slide25CSID Management and Tolerance
Will not “outgrow” disorder but
tolerances may change as the GI tract lengthensFood tolerances are different for every personDetermine individual tolerances
Introduce 1 new food at a time and track symptoms
Work with a Registered Dietitian for nutrition education and ongoing support
Slide26Sacrosidase
(Brand name: Sucraid®)Enzyme replacement therapy for sucraseDosage weight dependentTaken with every meal/snack that contains sucroseIs not covered by Medicaid
Covered by most private insurance
Requires refrigeration
Does
not help with starch
digestion
Prescription Medication
Slide27Tribally Sponsored Health Insurance Program
Aids in coverage of sacrosidase
ANTHC TSHIP assists with enrolling patientsVisit anthc.org/tship for more information
T-SHIP
Slide28Goals of the Program:Increase awareness of CSIDResource center for patients, families, and medical staffMaintain culturally relevant educational materials
CSID education
materials for clinics, waiting rooms, health
fairs
Find materials and other resources on
anthc.org/
csid
ANTHC CSID Program
Slide29Slide30Slide31Slide32Resources and References
ANTHC CSID webpage:
anthc.org/csid Pocket
Guide to Alaska Native Pediatric Diagnoses
http://
anmc.org/files/Pocket-Guide-to-Alaska-Native-Pediatric-Diagnoses_web.pdf
CSID Cares:
http://csidcares.org/
Sucraid
®:
http://
sucraid.com
Fulgent Genetics
https://
www.fulgentgenetics.com/congenital-sucrase-isomaltase-deficiency
CSID ADN
article
http://www.adn.com/article/20150119/sugar-intolerance-northern-populations-linked-specific-gene-researchers-say
Slide33Additional References
Treem, W. (2012). Clinical Aspects and Treatment of Congenital Sucrase-Isomaltase Deficiency. Journal of Pediatric Gastroenterology and Nutrition, 55, pp.S7-S13.
Gericke, B., Amiri, M. and Naim, H. (2016). The multiple roles of sucrase-isomaltase in the
Intestinal
physiology. Molecular and Cellular Pediatrics, 3(1
).
Marcadier
, J., Boland, M., Scott, C., Issa, K., Wu, Z., McIntyre, A., Hegele, R., Geraghty, M. and Lines, M. (2014). Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation. Canadian Medical Association Journal, 187(2),
pp.102-107.
Husein
, D., Wanes, D., Marten, L., Zimmer, K-P., and
Naim
, H. (2019). Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital
Sucrase-Isomaltase
Deficiency. Nutrients, 11 (10
), 2290; https://
doi.org/10.3390/nu11102290.
Genetics.edu.au.
(2020).
[online] Available at:
http://www.genetics.edu.au/publications-and-resources/facts-sheets/fact-sheet-7-autosomal-recessive-inheritance [
Accessed
Dec. 2020].
Rarediseases.info.nih.gov
. (2018). Congenital sucrase-isomaltase deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. [online] Available at: https://rarediseases.info.nih.gov/diseases/7710/congenital-sucrase-isomaltase-deficiency [Accessed 4 Sep. 2018
].
Slide34Thank You
Image
by
Samantha
Maloney in Kotzebue
Slide35