Glycogen storage disease type I secondary prevention: Difference between revisions
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*All patients/families should carry an emergency letter and an emergency kit at all times. | *All patients/families should carry an emergency letter and an emergency kit at all times. | ||
*all patients should wear a medical alert identification. | *all patients should wear a medical alert identification. | ||
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*Both overtreatment and undertreatment are harmful. Overtreatment can result in insulin resistance. | *Both overtreatment and undertreatment are harmful. Overtreatment can result in insulin resistance. | ||
*'''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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===Hepatic and hepatic transplantation recommendations=== | ===Hepatic and hepatic transplantation recommendations=== | ||
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*Percutaneous ethanol injections, radiofrequency ablation, and partial liver resection are treatment options for liver adenomas (especially if an increase in size, number, or bleeding is noted). A high suspicion of HCC is needed because no reliable biomarker is currently available for HCA-to-HCC transformation. A sudden increase in size or number, or an increase in vascularity of adenomas, is concerning for nHCC transformation. | *Percutaneous ethanol injections, radiofrequency ablation, and partial liver resection are treatment options for liver adenomas (especially if an increase in size, number, or bleeding is noted). A high suspicion of HCC is needed because no reliable biomarker is currently available for HCA-to-HCC transformation. A sudden increase in size or number, or an increase in vascularity of adenomas, is concerning for nHCC transformation. | ||
*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. | ||
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*Consider a thiazide diuretic for hypercalciuria. | *Consider a thiazide diuretic for hypercalciuria. | ||
*Maintain normal blood pressure for age. | *Maintain normal blood pressure for age. | ||
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**The lowest effective G-CSF dose should be used to avoid worsening of splenomegaly, hypersplenism, hepatomegaly, and bone pain. G-CSF should be administered subcutaneously starting at 0.5 -1.0 µg per kilogram per day given daily or every other day. The G-CSF dose should be increased stepwise at approximately 2-week intervals until the target ANC of more than 500 to up to 1.0 x 10<sup>9</sup>/L is reached. This dose then should be maintained, adjusting for subsequent increases in the patient's weight with growth and development. | **The lowest effective G-CSF dose should be used to avoid worsening of splenomegaly, hypersplenism, hepatomegaly, and bone pain. G-CSF should be administered subcutaneously starting at 0.5 -1.0 µg per kilogram per day given daily or every other day. The G-CSF dose should be increased stepwise at approximately 2-week intervals until the target ANC of more than 500 to up to 1.0 x 10<sup>9</sup>/L is reached. This dose then should be maintained, adjusting for subsequent increases in the patient's weight with growth and development. | ||
*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. | ||
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*Maintain lipid levels within the normal range to prevent atherosclerosis and pancreatitis. | *Maintain lipid levels within the normal range to prevent atherosclerosis and pancreatitis. | ||
*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. | ||
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*Lactated Ringer's solution should not be used because of the risk of worsening lactic acidosis and metabolic decompensation. | *Lactated Ringer's solution should not be used because of the risk of worsening lactic acidosis and metabolic decompensation. | ||
*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. | ||
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Revision as of 16:44, 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 BG testing is done before each clinic visit to adjust diet, CS intake, and overnight gastric feedings (OGFs).
The following BG 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, BG 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 BG 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 BG 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.