Glycogen storage disease type III secondary prevention: Difference between revisions
No edit summary |
|||
Line 1: | Line 1: | ||
__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. | |||
Effective measures for the secondary prevention of | |||
==Secondary Prevention== | ==Secondary Prevention== | ||
*Effective measures for the secondary prevention of | *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 | **Blood glucose monitoring | ||
**Prevent | **Prevent overtreatment | ||
**General medical care recommendations | **General medical care recommendations | ||
**Gastrointestinal/nutritional recommendations | **Gastrointestinal/nutritional recommendations | ||
Line 20: | Line 16: | ||
**Surgery and anesthesia recommendations | **Surgery and anesthesia recommendations | ||
**Gynecological and obstetrical recommendations | **Gynecological and obstetrical recommendations | ||
===Blood glucose (BG) monitoring=== | ===Blood glucose (BG) monitoring=== |
Revision as of 15:29, 22 December 2017
Glycogen storage disease type III Microchapters |
Differentiating Glycogen storage disease type III from other Diseases |
---|
Diagnosis |
Treatment |
Case Studies |
Glycogen storage disease type III secondary prevention On the Web |
American Roentgen Ray Society Images of Glycogen storage disease type III secondary prevention |
FDA on Glycogen storage disease type III secondary prevention |
CDC on Glycogen storage disease type III secondary prevention |
Glycogen storage disease type III secondary prevention in the news |
Blogs on Glycogen storage disease type III secondary prevention |
Risk calculators and risk factors for Glycogen storage disease type III secondary prevention |
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 ("medical home").
- 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 echo
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.