Glycogen storage disease type III secondary prevention: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Glycogen storage disease type III}} | {{Glycogen storage disease type III}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Anmol}} | ||
==Overview== | ==Overview== | ||
Effective measures for the secondary prevention of glycogen storage disease type 3 include [[blood glucose monitoring]], prevent overtreatment, general medical care recommendations, [[gastrointestinal]]/[[nutritional]] recommendations, [[cardiology]] recommendations, [[physical therapy]], [[surgery]]/[[anesthesia]] recommendations, and [[gynecological]]/[[obstetrical]] recommendations. | |||
==Secondary Prevention== | |||
*Effective measures for the secondary prevention of glycogen storage disease type 3 include:<ref name="KishnaniAustin2010">{{cite journal|last1=Kishnani|first1=Priya S|last2=Austin|first2=Stephanie L|last3=Arn|first3=Pamela|last4=Bali|first4=Deeksha S|last5=Boney|first5=Anne|last6=Case|first6=Laura E|last7=Chung|first7=Wendy K|last8=Desai|first8=Dev M|last9=El-Gharbawy|first9=Areeg|last10=Haller|first10=Ronald|last11=Smit|first11=G Peter A|last12=Smith|first12=Alastair D|last13=Hobson-Webb|first13=Lisa D|last14=Wechsler|first14=Stephanie Burns|last15=Weinstein|first15=David A|last16=Watson|first16=Michael S|title=Glycogen Storage Disease Type III diagnosis and management guidelines|journal=Genetics in Medicine|volume=12|issue=7|year=2010|pages=446–463|issn=1098-3600|doi=10.1097/GIM.0b013e3181e655b6}}</ref> | |||
**[[Blood glucose monitoring]] | |||
**Prevent overtreatment | |||
**General medical care recommendations | |||
**[[Gastrointestinal]]/[[nutritional]] recommendations | |||
**[[Cardiology]] recommendations | |||
**[[Physical therapy]] | |||
**[[Surgery]] and [[anesthesia]] recommendations | |||
**[[Gynecological]] and [[obstetrical]] recommendations | |||
===Blood glucose (BG) monitoring=== | |||
*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 [[blood glucose]] testing is done before each clinic visit to adjust [[Diet (nutrition)|diet]], '''[[cornstarch]]''' '''(CS)''' intake, and '''overnight gastric feedings''' '''(OGFs)'''. | |||
* The following [[blood glucose]] levels should be checked in general: | |||
**Before meals | |||
**Before [[cornstarch]] (CS) intake | |||
**Before bed | |||
**First thing in the morning | |||
*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 70-140 mg/dl. | |||
===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]]. | |||
===Growth tracking=== | |||
*Growth should be tracked through parameters including: | |||
**[[Height]] | |||
**[[Weight]] | |||
**Weight/height ratio | |||
**[[Body mass index]] | |||
**Head circumference | |||
*Changes in growth pattern is observed in poor metabolic control of GSD type 3. | |||
== | ===General medical care recommendations=== | ||
* | *All patients should have a [[primary care provider]]. | ||
*Routine [[Immunization|immunizations]] should be given as recommended by [[Centers for Disease Control and Prevention]]. | |||
* | *Avoid [[medications]] that can potentially cause [[hypoglycemia]] and check for potential [[Drug interaction|drug interactions]]/[[side effects]] when a new [[medication]] is prescribed. | ||
* | *All patients/families should carry an emergency letter and an emergency kit at all times. | ||
*All patients should wear a medical alert identification. | |||
** | |||
===Gastrointestinal/nutritional recommendations=== | ===Gastrointestinal/nutritional recommendations=== | ||
*Muscle abnormalities and poor metabolic control may contribute to low [[bone mineral density | *[[Muscle]] abnormalities and poor metabolic control may contribute to low [[bone mineral density]]. | ||
*Therefore laboratory evaluation of calcium and vitamin D levels is recommended at regular intervals. | *Therefore laboratory evaluation of [[calcium]] and [[vitamin D]] levels is recommended at regular intervals. | ||
===Cardiology recommendations=== | ===Cardiology recommendations=== | ||
*Usually there is no restriction on exercise. | *Usually there is no restriction on exercise. | ||
*Exercise should be restricted if: | *Exercise should be restricted if: | ||
** There is significant ventricular hypertrophy with ventricular outflow tract obstruction | ** There is significant [[ventricular hypertrophy]] with [[ventricular outflow tract]] obstruction | ||
** There is heart rhythm abnormalities | ** There is [[Cardiac arrhythmia|heart rhythm abnormalities]] | ||
====Electrocardiogram==== | ====Electrocardiogram==== | ||
*Routine 12 lead ECG should be performed every year to screen for ventricular hypertrophy. | *Routine 12 lead [[ECG]] should be performed every year to screen for [[ventricular hypertrophy]]. | ||
*Additional electrophysiological monitoring is indicated if: | *Additional [[electrophysiological]] monitoring is indicated if: | ||
** There is presence if clinical symptoms such as palpitations | ** There is presence if clinical symptoms such as [[palpitations]] | ||
** ECG abnormality develops | ** [[ECG]] abnormality develops | ||
** Individuals develop moderate to severe ventricular hypertrophy on serial | ** Individuals develop moderate to severe [[ventricular hypertrophy]] on serial echocardiography | ||
====Echocardiogram==== | ====Echocardiogram==== | ||
* Periodic echocardiogram should be done to measure wall thickness, ventricular mass, systolic function (shortening fraction and ejection fraction), and diastolic function.<ref name="pmid9070576">{{cite journal| author=Lee PJ, Deanfield JE, Burch M, Baig K, McKenna WJ, Leonard JV| title=Comparison of the functional significance of left ventricular hypertrophy in hypertrophic cardiomyopathy and glycogenosis type III. | journal=Am J Cardiol | year= 1997 | volume= 79 | issue= 6 | pages= 834-8 | pmid=9070576 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9070576 }} </ref> | * Periodic echocardiogram should be done to measure wall thickness, ventricular mass, [[Systole (medicine)|systolic]] function (shortening fraction and ejection fraction), and [[Diastole|diastolic]] function.<ref name="pmid9070576">{{cite journal| author=Lee PJ, Deanfield JE, Burch M, Baig K, McKenna WJ, Leonard JV| title=Comparison of the functional significance of left ventricular hypertrophy in hypertrophic cardiomyopathy and glycogenosis type III. | journal=Am J Cardiol | year= 1997 | volume= 79 | issue= 6 | pages= 834-8 | pmid=9070576 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9070576 }} </ref> | ||
=====Glycogen storage disease type 3a===== | =====Glycogen storage disease type 3a===== | ||
:* It is recommended to perform serial echocardiogram beginning at the time of diagnosis. | :* It is recommended to perform serial [[echocardiogram]] beginning at the time of diagnosis. | ||
=====Glycogen storage disease type 3b===== | =====Glycogen storage disease type 3b===== | ||
:* It is recommended to perform serial echocardiogram beginning at the age of 5 years. | :* It is recommended to perform serial [[echocardiogram]] beginning at the age of 5 years. | ||
===Physical Therapy=== | |||
*Periodic assessment is recommended for the following: | |||
** Strength and endurance (both direct and functional) | |||
** Standardized gross and fine motor testing | |||
*If [[hepatomegaly]] is present, contact sports should be avoided. | |||
*If [[carpal tunnel syndrome]] is present due to deposition of [[glycogen]] i[[n median nerve]], [[wrist]] [[splint]] during sleep is recommended. | |||
* '''Orthoses''' | |||
**Custom-molded foot orthoses | |||
***May help improving distal alignment at feet and ankles | |||
***Decrease [[genu valgum]] | |||
***Improved weight-bearing alignment for protection of [[musculoskeletal system]] | |||
**Taller orthotic intervention with ankle-foot orthoses are recommended for adults with: | |||
***More severe malalignment | |||
***Instability | |||
***Distal weakness | |||
===Surgery and anesthesia recommendations=== | |||
*Monitor children during a [[surgical procedure]] for potential [[hypoglycemia]]. | |||
*[[Anesthetic agents|Anesthetic agent]] should be avoided if [[cirrhosis]] is present. | |||
*Individuals with [[myopathy]] have increased sensitivity to the nondepolarizing agents such as [[succinylcholine]]. Avoid these agents as they may lead to [[rhabdomyolysis]]. | |||
*Careful monitoring of the patient's [[glucose]], [[Electrolyte disturbance|electrolytes]], and respiratory parameters during [[surgery]] and [[anesthesia]] is necessary. | |||
===Gynecological and obstetrical recommendations=== | |||
*Screen for [[polycystic ovary disease]] starting from young age.<ref name="pmid7634500">{{cite journal| author=Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV| title=The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism. | journal=Clin Endocrinol (Oxf) | year= 1995 | volume= 42 | issue= 6 | pages= 601-6 | pmid=7634500 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7634500 }} </ref> | |||
*Avoidance of [[estrogen]] as an [[oral contraceptive]], because of increased risk for [[adenoma]] formation, is recommended.<ref name="pmid17261770">{{cite journal| author=Giannitrapani L, Soresi M, La Spada E, Cervello M, D'Alessandro N, Montalto G| title=Sex hormones and risk of liver tumor. | journal=Ann N Y Acad Sci | year= 2006 | volume= 1089 | issue= | pages= 228-36 | pmid=17261770 | doi=10.1196/annals.1386.044 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17261770 }} </ref><ref name="pmid12373581">{{cite journal| author=Mairovitz V, Labrune P, Fernandez H, Audibert F, Frydman R| title=Contraception and pregnancy in women affected by glycogen storage diseases. | journal=Eur J Pediatr | year= 2002 | volume= 161 Suppl 1 | issue= | pages= S97-101 | pmid=12373581 | doi=10.1007/s00431-002-1013-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12373581 }} </ref> | |||
**[[Progestin-only oral contraceptives|Progestin-only contraceptives]] may be considered. There is a risk for reduced [[bone mineral density]], which needs to be monitored. | |||
*Plan for [[pregnancy]] so that [[metabolic]] parameters may be monitored and normalized in preparation for [[pregnancy]]. | |||
*[[Blood glucose]] levels and overall [[metabolic]] control (including [[renal]] status) should be monitored during [[pregnancy]] and [[labor]] to maintain euglycemia. | |||
*[[Pregnancies]] should be followed by a high-risk [[obstetrician]] in a tertiary setting. | |||
==References== | ==References== | ||
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{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category: | |||
[[Category:Endocrinology]] | |||
[[Category:Hepatology]] | |||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] |
Latest revision as of 17:17, 16 January 2018
Glycogen storage disease type III Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Effective measures for the secondary prevention of glycogen storage disease type 3 include blood glucose monitoring, prevent overtreatment, general medical care recommendations, gastrointestinal/nutritional recommendations, cardiology recommendations, physical therapy, surgery/anesthesia recommendations, and gynecological/obstetrical recommendations.
Secondary Prevention
- Effective measures for the secondary prevention of glycogen storage disease type 3 include:[1]
- Blood glucose monitoring
- Prevent overtreatment
- General medical care recommendations
- Gastrointestinal/nutritional recommendations
- Cardiology recommendations
- Physical therapy
- Surgery and anesthesia recommendations
- Gynecological and 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 in general:
- Before meals
- Before cornstarch (CS) intake
- Before bed
- First thing in the morning
- 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 70-140 mg/dl.
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.
Growth tracking
- Growth should be tracked through parameters including:
- Height
- Weight
- Weight/height ratio
- Body mass index
- Head circumference
- Changes in growth pattern is observed in poor metabolic control of GSD type 3.
General medical care recommendations
- All patients should have a primary care provider.
- Routine immunizations should be given as recommended by Centers for Disease Control and Prevention.
- Avoid medications that can potentially cause hypoglycemia and check for potential drug interactions/side effects when a new medication is prescribed.
- All patients/families should carry an emergency letter and an emergency kit at all times.
- All patients should wear a medical alert identification.
Gastrointestinal/nutritional recommendations
- Muscle abnormalities and poor metabolic control may contribute to low bone mineral density.
- Therefore laboratory evaluation of calcium and vitamin D levels is recommended at regular intervals.
Cardiology recommendations
- Usually there is no restriction on exercise.
- Exercise should be restricted if:
- There is significant ventricular hypertrophy with ventricular outflow tract obstruction
- There is heart rhythm abnormalities
Electrocardiogram
- Routine 12 lead ECG should be performed every year to screen for ventricular hypertrophy.
- Additional electrophysiological monitoring is indicated if:
- There is presence if clinical symptoms such as palpitations
- ECG abnormality develops
- Individuals develop moderate to severe ventricular hypertrophy on serial echocardiography
Echocardiogram
- Periodic echocardiogram should be done to measure wall thickness, ventricular mass, systolic function (shortening fraction and ejection fraction), and diastolic function.[2]
Glycogen storage disease type 3a
- It is recommended to perform serial echocardiogram beginning at the time of diagnosis.
Glycogen storage disease type 3b
- It is recommended to perform serial echocardiogram beginning at the age of 5 years.
Physical Therapy
- Periodic assessment is recommended for the following:
- Strength and endurance (both direct and functional)
- Standardized gross and fine motor testing
- If hepatomegaly is present, contact sports should be avoided.
- If carpal tunnel syndrome is present due to deposition of glycogen in median nerve, wrist splint during sleep is recommended.
- Orthoses
- Custom-molded foot orthoses
- May help improving distal alignment at feet and ankles
- Decrease genu valgum
- Improved weight-bearing alignment for protection of musculoskeletal system
- Taller orthotic intervention with ankle-foot orthoses are recommended for adults with:
- More severe malalignment
- Instability
- Distal weakness
- Custom-molded foot orthoses
Surgery and anesthesia recommendations
- Monitor children during a surgical procedure for potential hypoglycemia.
- Anesthetic agent should be avoided if cirrhosis is present.
- Individuals with myopathy have increased sensitivity to the nondepolarizing agents such as succinylcholine. Avoid these agents as they may lead to rhabdomyolysis.
- Careful monitoring of the patient's glucose, electrolytes, and respiratory parameters during surgery and anesthesia is necessary.
Gynecological and obstetrical recommendations
- Screen for polycystic ovary disease starting from young age.[3]
- Avoidance of estrogen as an oral contraceptive, because of increased risk for adenoma formation, is recommended.[4][5]
- Progestin-only contraceptives may be considered. There is a risk for reduced bone mineral density, which needs to be monitored.
- Plan for pregnancy so that metabolic parameters may be monitored and normalized in preparation for pregnancy.
- Blood glucose levels and overall metabolic control (including renal status) should be monitored during pregnancy and labor to maintain euglycemia.
- Pregnancies should be followed by a high-risk obstetrician in a tertiary setting.
References
- ↑ Kishnani, Priya S; Austin, Stephanie L; Arn, Pamela; Bali, Deeksha S; Boney, Anne; Case, Laura E; Chung, Wendy K; Desai, Dev M; El-Gharbawy, Areeg; Haller, Ronald; Smit, G Peter A; Smith, Alastair D; Hobson-Webb, Lisa D; Wechsler, Stephanie Burns; Weinstein, David A; Watson, Michael S (2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446–463. doi:10.1097/GIM.0b013e3181e655b6. ISSN 1098-3600.
- ↑ Lee PJ, Deanfield JE, Burch M, Baig K, McKenna WJ, Leonard JV (1997). "Comparison of the functional significance of left ventricular hypertrophy in hypertrophic cardiomyopathy and glycogenosis type III". Am J Cardiol. 79 (6): 834–8. PMID 9070576.
- ↑ Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV (1995). "The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism". Clin Endocrinol (Oxf). 42 (6): 601–6. PMID 7634500.
- ↑ Giannitrapani L, Soresi M, La Spada E, Cervello M, D'Alessandro N, Montalto G (2006). "Sex hormones and risk of liver tumor". Ann N Y Acad Sci. 1089: 228–36. doi:10.1196/annals.1386.044. PMID 17261770.
- ↑ Mairovitz V, Labrune P, Fernandez H, Audibert F, Frydman R (2002). "Contraception and pregnancy in women affected by glycogen storage diseases". Eur J Pediatr. 161 Suppl 1: S97–101. doi:10.1007/s00431-002-1013-x. PMID 12373581.