Glycogen storage disease type I secondary prevention

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fEditor-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 secondary prevention of glycogen storage disease type 1 (GSD type 1) include blood glucose (BG) monitoring, prevent overtreatment, growth tracking as well as several system wise recommendations including general medical care, gastrointestinal or nutritional, hepatic and hepatic transplantation, nephrology, hematology, cardiovascular, surgery/anesthesia, and gynecological/obstetrical recommendations.

Secondary Prevention

Effective measures for secondary prevention of glycogen storage disease type 1 (GSD type 1) include:

• 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 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 for 2–3 days before the clinic visit:
  • Before meals
  • Before cornstarch (CS) intake
  • Before and after exercise
• 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 mg/dl.

Lactate meter

• The lactate meter is a portable device to measure lactate concentration.
• 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 blood glucose control in GSD patients.
• 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.

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 1.

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. Patients should be encouraged to participate in age-appropriate physical activities, but contact or competitive sports should be avoided because of the risk of liver injury. Good dental hygiene and frequent monitoring of dental health are advised. During intercurrent illnesses, early evaluation and treatment are encouraged. Patients who cannot maintain normal dietary intake/cornstarch treatment or who have emesis should proceed to the nearest emergency department for evaluation and i.v. glucose treatment. All patients/families should carry an emergency letter and an emergency kit at all times. All patients should wear a medical alert identification.

Adapted from Genetics in medicine

Gastrointestinal or Nutritional recommendations

A metabolic dietician is an important member of the team. If not available, one should be consulted. Maintaining blood glucose levels ≥70 mg/dl is important to achieve good metabolic control. Levels should e kept consistent to avoid hypoglycemia and fluctuations blood glucose levels. In infants and children: Avoid fasting for more than 3-4 hours. Offer small, frequent feedings; avoid or limit sucrose, fructose, and galactose (a soy formula such as Prosobee may be used overnight). Access via nasogastric or G-tube placement is recommended for emergencies and/or for OGFs; caution with surgical G-tube placement should be taken in GSD 1b. Monitor blood glucose before feeds. Raw, uncooked cornstarch may be introduced between 6 and 12 months of age. Continuous gastric feedings may be used overnight. In adolescent and adults: Avoid fasting for more than 5-6 hours with the use of raw, uncooked cornstarch and/or OGFs; it is important to not change the brand of cornstarch. If changed, then monitoring of blood glucose levels after the change is necessary. Plan for small, frequent meals (nutrient distribution:60-70% carbohydrates, 10-15% protein, <30% fat); avoid or limit sucrose, fructose, and galactose. Regular blood glucose monitoring is needed, especially during periods of growth. Multivitamins, calcium, and vitamin D are necessary because of the restricted nature of the diet. Both overtreatment and undertreatment are harmful. Overtreatment can result in insulin resistance. Good glucose control improves several of the metabolic sequelae of GSD 1.

Adapted from Genetics in medicine

Hepatic and hepatic transplantation recommendations

There should be monitoring for development of liver adenomas via liver imaging especially after the onset of puberty. Adenomas are often multiple. In some situations, there is a regression of adenomas noted with good metabolic control. Other genetic factors can play a role in hepatic adenoma development. There is a risk for the hepatocellular adenoma (HCA) to hepatocellular carcinoma (HCC) transformation, especially when there is a rapid increase in size or number of adenomas, routine laboratory testing to include hepatic profile (serum glutamic oxalacetic transaminase, serum glutamic pyruvic transaminase, albumin, bilirubin) should be performed every 6 months. In the setting of consideration of a liver transplantation, laboratory testing that includes serum creatinine and international normalized ratio (prothrombin time/partial thromboplastin time) tests, in addition to hepatic profile, should be performed every 6 months. α-Fetoprotein and chorionic embryonic antigen levels are often normal, even in the setting of HCC, and do not predict hepatocellular adenoma to malignancy transformation. Abdominal ultrasound is reasonable in the pediatric population. Abdominal imaging should be performed at baseline and every 12-24 months. Abdominal computed tomography/magnetic resonance imaging with contrast should be performed in older patients or patients within the pediatric age group once adenoma is detected on ultrasound and are to be repeated every 6 - 12 months or earlier based on laboratory and clinical findings. 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 HCC 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 liver transplantation. The latter should be performed at centers with experience in ranking GSD type 1 severity.

Adapted from Genetics in medicine

Nephrology recommendations

Diagnostic studies should be performed at routine visits to follow renal manifestations of GSD type 1, including: Renal ultrasound to assess kidney size and growth, nephrolithiasis, or nephrocalcinosis. Urinalysis for hematuria and proteinuria. Quantification by spot samples of urinary microalbumin/creatinine excretion, citrate, and calcium/creatinine excretion. Measurement of serum electrolytes, calcium, and phosphate; blood urea nitrogen and serum creatinine along with calculation of estimated GFR. Consider initiating an ACE inhibitor or angiotensin receptor blockers (ARBs) with evidence of hyperfiltration (sustained estimated GFR >140ml/min/1.73 m2). Initiate an ACE inhibitor or ARB for persistent microalbuminuria (>30ug albumin/mg creatinine). Initiate an ACE inhibitor or ARB for frank proteinuria (>0.2 mg protein/mg creatinine). Initiate citrate supplementation for hypocitraturia, use of potassium citrate in patients with good renal function, accompanied by careful monitoring of electrolytes. Use of extreme caution in the setting of renal failure. Consider a thiazide diuretic for hypercalciuria. Maintain normal blood pressure for age.

Adapted from Genetics in medicine

Hematology recommendations

Evaluation of anemia should include nutritional causes, adenomas, enterocolitis, menorrhagia in females, and occult blood loss. Evaluations should include complete cell count with manual differential, serum iron, total iron-binding capacity, and reticulocyte count. In GSD type 1a, if anemia is severe, evaluation for hepatic adenomas should be performed. In GSD type 1b, if anemia is severe, evaluation for GSD enterocolitis should be performed. If iron deficiency anemia is documented, iron supplementation (oral or i.v.) as needed and optimization of metabolic control are recommended. Consider iron deficiency anemia if iron levels do not improve. Neutropenic patients with GSD type 1b should be treated with granulocyte colony stimulating factor (G-CSF), particularly if there is already a history and pattern of fever, infections, or enterocolitis. 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 absolute neutrophil count of more than 500 to up to 1.0 x 109/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.

Adapted from Genetics in medicine

Cardiovascular recommendations

Screen systemic blood pressure to detect systemic hypertension beginning in infancy. 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.

Adapted from Genetics in medicine

Surgery and anesthesia recommendations

Educate parents about symptoms of hypoglycemia and metabolic decompensation. Enable parents to provide oral or nasogastric glucose during minor ailments. Parents should be provided an emergency treatment plan. Careful management of the patient's glucose and electrolytes during surgery is necessary. Admission 24h before surgical procedure allows for i.v. fluids with dextrose 10 and metabolic control. 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 nutrition is indicated) should not be discontinued abruptly; this should be performed only after the patient is eating and maintaining blood glucose levels.

Adapted from Genetics in medicine

Gynecological and obstetrical recommendations

Avoidance of estrogen as an oral contraceptive, because of increased risk for adenoma formation, is recommended. For GSD type 1b, avoidance of an intrauterine device because of increased infection risk is recommended. Progestin-only contraceptives may be considered. There is a risk for reduced bone mineral density, which needs to be monitored. Evaluate for menorrhagia and refer as appropriate. Plan for pregnancy so that metabolic parameters may be monitored and normalized in preparation for pregnancy. Medications such as ACE inhibitors, allopurinol, and lipid-lowering drugs much be discontinued during 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.

Adapted from Genetics in medicine