Glycogen storage disease type III secondary prevention
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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.