Glycogen storage disease type III secondary prevention: Difference between revisions
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===Blood glucose (BG) monitoring=== | ===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]]. | *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)'''. | *Documentation of [[blood glucose]] testing is done before each clinic visit to adjust [[Diet (nutrition)|diet]], '''[[cornstarch]]''' '''(CS)''' intake, and '''overnight gastric feedings''' '''(OGFs)'''. | ||
| Line 26: | Line 27: | ||
**Before bed | **Before bed | ||
**First thing in the morning | **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. | *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=== | ===Prevent overtreatment=== | ||
| Line 34: | Line 36: | ||
===Growth tracking=== | ===Growth tracking=== | ||
*Growth should be tracked through parameters including: | *Growth should be tracked through parameters including: | ||
**Height | **[[Height]] | ||
**Weight | **[[Weight]] | ||
**Weight/height ratio | **Weight/height ratio | ||
**Body mass index | **[[Body mass index]] | ||
**Head circumference | **Head circumference | ||
*Changes in growth pattern is observed in poor metabolic control of GSD type 3. | *Changes in growth pattern is observed in poor metabolic control of GSD type 3. | ||
===General medical care recommendations=== | ===General medical care recommendations=== | ||
*All patients should have a [[primary care provider]] | *All patients should have a [[primary care provider]]. | ||
*Routine [[Immunization|immunizations]] should be given as recommended by [[Centers for Disease Control and Prevention]]. | *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. | *Avoid [[medications]] that can potentially cause [[hypoglycemia]] and check for potential [[Drug interaction|drug interactions]]/[[side effects]] when a new [[medication]] is prescribed. | ||
Latest revision as of 17:17, 16 January 2018
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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.