Glycogen storage disease type I secondary prevention: Difference between revisions
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Effective measures for secondary prevention of GSD type 1 include:<ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref> | Effective measures for secondary prevention of GSD type 1 include:<ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref> | ||
* Blood glucose (BG) monitoring | * [[Blood glucose monitoring|Blood glucose (BG) monitoring]] | ||
* Prevent overtreatment | * Prevent overtreatment | ||
* Growth tracking | * Growth tracking | ||
* General medical care recommendations | * General medical care recommendations | ||
* Gastrointestinal or | * [[Gastrointestinal]] or [[Nutrition|nutritional]] recommendations | ||
* Hepatic and hepatic transplantation recommendations | * [[Hepatic]] and [[Liver transplantation|hepatic transplantation]] recommendations | ||
* Nephrology recommendations | * [[Nephrology]] recommendations | ||
* Hematology recommendations | * [[Hematology]] recommendations | ||
* Cardiovascular recommendations | * [[Cardiovascular]] recommendations | ||
* Surgery/anesthesia recommendations | * [[Surgery]]/[[anesthesia]] recommendations | ||
* Gynecological/obstetrical recommendations | * [[Gynaecology|Gynecological]]/[[obstetrical]] recommendations | ||
===Blood glucose (BG) monitoring=== | ===Blood glucose (BG) monitoring=== | ||
*Initial diet prescription is established on the basis of frequent BG monitoring. Afterwards, BG monitoring is done randomly to avoid asymptomatic hypoglycemia. | *Initial diet prescription is established on the basis of frequent [[Blood glucose monitoring|BG monitoring]]. Afterwards, [[Blood glucose monitoring|BG monitoring]] is done randomly to avoid asymptomatic [[hypoglycemia]]. | ||
*Documentation of | *Documentation of [[blood glucose]] testing is done before each clinic visit to adjust diet, cornstarch (CS) intake, and overnight gastric feedings (OGFs). | ||
The following | |||
* The following [[blood glucose]] levels should be checked for 2–3 days before the clinic visit: | |||
**Before meals | **Before meals | ||
**Before cornstarch (CS) intake | **Before cornstarch (CS) intake | ||
**Before and after exercise | **Before and after exercise | ||
*If the cornstarch dose is changed, | *If the cornstarch dose is changed, [[blood glucose]] levels should be checked after 4 hours and then at hourly intervals to establish the duration of effectiveness. Effectiveness is measured by the duration of time for which the dose of CS will maintain the [[blood glucose]] level >70 mg/dl. | ||
====Lactate meter==== | ====Lactate meter==== | ||
*The lactate meter is a portable device to measure lactate concentration.<ref name="pmid16151900">{{cite journal| author=Saunders AC, Feldman HA, Correia CE, Weinstein DA| title=Clinical evaluation of a portable lactate meter in type I glycogen storage disease. | journal=J Inherit Metab Dis | year= 2005 | volume= 28 | issue= 5 | pages= 695-701 | pmid=16151900 | doi=10.1007/s10545-005-0090-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16151900 }} </ref> | *The [[lactate]] meter is a portable device to measure [[lactate]] concentration.<ref name="pmid16151900">{{cite journal| author=Saunders AC, Feldman HA, Correia CE, Weinstein DA| title=Clinical evaluation of a portable lactate meter in type I glycogen storage disease. | journal=J Inherit Metab Dis | year= 2005 | volume= 28 | issue= 5 | pages= 695-701 | pmid=16151900 | doi=10.1007/s10545-005-0090-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16151900 }} </ref> | ||
*Lactate concentrations are higher in patients with GSD type 1. | *[[Lactate]] concentrations are higher in patients with GSD type 1. | ||
*The lactate meter may act as a good supplement to glucose monitoring, particularly during times of illness to help prevent acute deterioration, to avoid hospitalization, or to alert the caregivers about emergencies. | *The [[lactate]] meter may act as a good supplement to [[glucose]] monitoring, particularly during times of illness to help prevent acute deterioration, to avoid hospitalization, or to alert the caregivers about emergencies. | ||
====Continuous blood glucose monitoring system==== | ====Continuous blood glucose monitoring system==== | ||
*This is a method for monitoring and managing | *This is a method for monitoring and managing [[blood glucose]] control in GSD patients.<ref name="pmid21556835">{{cite journal| author=White FJ, Jones SA| title=The use of continuous glucose monitoring in the practical management of glycogen storage disorders. | journal=J Inherit Metab Dis | year= 2011 | volume= 34 | issue= 3 | pages= 631-42 | pmid=21556835 | doi=10.1007/s10545-011-9335-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21556835 }} </ref> | ||
*This system may also help detect asymptomatic hypoglycemia. | *This system may also help detect asymptomatic [[hypoglycemia]]. | ||
===Prevent overtreatment=== | ===Prevent overtreatment=== | ||
*Parents should be educated to avoid overtreating patients. | *Parents should be educated to avoid overtreating patients. | ||
*Overtreatment may result in complications including increased glycogen storage and over time may lead to hyperinsulinemia and insulin resistance.<ref name="pmid21491105">{{cite journal| author=Bhattacharya K| title=Dietary dilemmas in the management of glycogen storage disease type I. | journal=J Inherit Metab Dis | year= 2011 | volume= 34 | issue= 3 | pages= 621-9 | pmid=21491105 | doi=10.1007/s10545-011-9322-8 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21491105 }} </ref> | *Overtreatment may result in complications including increased glycogen storage and over time may lead to [[hyperinsulinemia]] and [[insulin resistance]].<ref name="pmid21491105">{{cite journal| author=Bhattacharya K| title=Dietary dilemmas in the management of glycogen storage disease type I. | journal=J Inherit Metab Dis | year= 2011 | volume= 34 | issue= 3 | pages= 621-9 | pmid=21491105 | doi=10.1007/s10545-011-9322-8 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21491105 }} </ref> | ||
===Growth tracking=== | ===Growth tracking=== | ||
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*all patients should wear a medical alert identification. | *all patients should wear a medical alert identification. | ||
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| style="background:#DCDCDC; + |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | | style="background:#DCDCDC; + " |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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*'''Good glucose control improves several of the metabolic sequelae of GSD 1.''' | *'''Good glucose control improves several of the metabolic sequelae of GSD 1.''' | ||
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| style="background:#DCDCDC; + |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | | style="background:#DCDCDC; + " |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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*Monitoring of the patient's MELD score is critical because it is used to assess the extent of liver disease and for ranking for LT. The latter should be performed at centers with experience in ranking GSD 1 severity. | *Monitoring of the patient's MELD score is critical because it is used to assess the extent of liver disease and for ranking for LT. The latter should be performed at centers with experience in ranking GSD 1 severity. | ||
|- | |- | ||
| style="background:#DCDCDC; + |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | | style="background:#DCDCDC; + " |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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*Maintain normal blood pressure for age. | *Maintain normal blood pressure for age. | ||
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| style="background:#DCDCDC; + |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | | style="background:#DCDCDC; + " |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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*Blood count with manual differential should be monitored several times per year. Bone marrow examinations are not recommended unless there is an unexpected change in the patient's other blood counts. | *Blood count with manual differential should be monitored several times per year. Bone marrow examinations are not recommended unless there is an unexpected change in the patient's other blood counts. | ||
|- | |- | ||
| style="background:#DCDCDC; + |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | | style="background:#DCDCDC; + " |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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*Screen for pulmonary hypertension by periodic echocardiography with attention to estimating right-ventricular pressure by tricuspid regurgitation jet starting at age 10 years and repeating every 3 years or at shorter intervals if there are suggestive clinical symptoms. | *Screen for pulmonary hypertension by periodic echocardiography with attention to estimating right-ventricular pressure by tricuspid regurgitation jet starting at age 10 years and repeating every 3 years or at shorter intervals if there are suggestive clinical symptoms. | ||
|- | |- | ||
| style="background:#DCDCDC; + |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | | style="background:#DCDCDC; + " |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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*Intravenous glucose-containing fluids or nutrition (total parenteral nutririon is indicated) should not eb discontinued abruptly; this should be performed only after the patient is eating and maintaining blood glucose levels. | *Intravenous glucose-containing fluids or nutrition (total parenteral nutririon is indicated) should not eb discontinued abruptly; this should be performed only after the patient is eating and maintaining blood glucose levels. | ||
|- | |- | ||
| style="background:#DCDCDC; + |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | | style="background:#DCDCDC; + " |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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*Pregnancies should be followed by a high-risk OB in a tertiary setting. | *Pregnancies should be followed by a high-risk OB in a tertiary setting. | ||
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| style="background:#DCDCDC; + |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | | style="background:#DCDCDC; + " |<small>'''Adopted from [https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014128a.html#bx2| Genetics in medicine]''' | ||
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Revision as of 17:06, 13 November 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Secondary Prevention
Effective measures for secondary prevention of GSD type 1 include:[1]
- Blood glucose (BG) monitoring
- Prevent overtreatment
- Growth tracking
- General medical care recommendations
- Gastrointestinal or nutritional recommendations
- Hepatic and hepatic transplantation recommendations
- Nephrology recommendations
- Hematology recommendations
- Cardiovascular recommendations
- Surgery/anesthesia recommendations
- Gynecological/obstetrical recommendations
Blood glucose (BG) monitoring
- Initial diet prescription is established on the basis of frequent BG monitoring. Afterwards, BG monitoring is done randomly to avoid asymptomatic hypoglycemia.
- Documentation of blood glucose testing is done before each clinic visit to adjust diet, cornstarch (CS) intake, and overnight gastric feedings (OGFs).
- The following blood glucose levels should be checked for 2–3 days before the clinic visit:
- Before meals
- Before cornstarch (CS) intake
- Before and after exercise
- If the cornstarch dose is changed, blood glucose levels should be checked after 4 hours and then at hourly intervals to establish the duration of effectiveness. Effectiveness is measured by the duration of time for which the dose of CS will maintain the blood glucose level >70 mg/dl.
Lactate meter
- The lactate meter is a portable device to measure lactate concentration.[2]
- Lactate concentrations are higher in patients with GSD type 1.
- The lactate meter may act as a good supplement to glucose monitoring, particularly during times of illness to help prevent acute deterioration, to avoid hospitalization, or to alert the caregivers about emergencies.
Continuous blood glucose monitoring system
- This is a method for monitoring and managing blood glucose control in GSD patients.[3]
- This system may also help detect asymptomatic hypoglycemia.
Prevent overtreatment
- Parents should be educated to avoid overtreating patients.
- Overtreatment may result in complications including increased glycogen storage and over time may lead to hyperinsulinemia and insulin resistance.[4]
Growth tracking
- Growth should be tracked through parameters including:[1]
- Height
- Weight
- Weight/height ratio
- Body mass index
- Head circumference
- Changes in growth pattern is observed in poor metabolic control of GSD type 1.
General medical care recommendations |
|
Adopted from Genetics in medicine |
Gastrointestinal or Nutritional recommendations |
|
Adopted from Genetics in medicine |
Hepatic and hepatic transplantation recommendations |
|
Adopted from Genetics in medicine |
Nephrology recommendations |
|
Adopted from Genetics in medicine |
Hematology recommendations |
|
Adopted from Genetics in medicine |
Cardiovascular recommendations= |
|
Adopted from Genetics in medicine |
Surgery/anesthesia recommendations |
|
Adopted from Genetics in medicine |
Gynecological/obstetrical recommendations |
|
Adopted from Genetics in medicine |
References
- ↑ 1.0 1.1 Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.
- ↑ Saunders AC, Feldman HA, Correia CE, Weinstein DA (2005). "Clinical evaluation of a portable lactate meter in type I glycogen storage disease". J Inherit Metab Dis. 28 (5): 695–701. doi:10.1007/s10545-005-0090-1. PMID 16151900.
- ↑ White FJ, Jones SA (2011). "The use of continuous glucose monitoring in the practical management of glycogen storage disorders". J Inherit Metab Dis. 34 (3): 631–42. doi:10.1007/s10545-011-9335-3. PMID 21556835.
- ↑ Bhattacharya K (2011). "Dietary dilemmas in the management of glycogen storage disease type I." J Inherit Metab Dis. 34 (3): 621–9. doi:10.1007/s10545-011-9322-8. PMID 21491105.