Further Outpatient Care
Perform follow-up in patients with glycogen-storage disease type IV (GSD IV) to evaluate the progression of liver disease, to determine the need for additional medical and dietary management, and to assess the urgency for surgical intervention. Periodic ultrasonography of the liver to monitor the development of hepatocellular adenoma is suggested.
Perform periodic follow-up to evaluate progressive organ involvement and failure in patients with predominant nerve, muscle, and cardiac involvement.
Deterrence/Prevention
The parents of an affected child should be provided genetic counseling regarding the autosomal recessive inheritance pattern and the 1:4 risk (25%) of an affected offspring with each pregnancy.
The parents of an affected child should be informed that analysis of the GBE1 gene by sequencing and other molecular techniques may identify the mutations in their child. Subsequently, if the mutations of an affected child are identified, then prenatal diagnostic testing may be offered for future pregnancies.
The parents of an affected child should be informed that if the mutations in an affected child are identified, genetic testing may be offered to close family members to determine carrier status for the GBE1 mutation.
Complications
The following complications may result from the disease process and medical or surgical interventions:
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Patients with liver cirrhosis who develop portal hypertension may develop complications of portosystemic blood shunting, including esophageal varices, encephalopathy splenomegaly, ascites, and renal dysfunction
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Patients with progressive liver disease may develop complications related to declining hepatic functional capacity.
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Patients with cardiomyopathy may die from progressive heart failure despite medical and surgical intervention.
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Patients with nonprogressive liver disease have an increased risk for hepatocellular adenoma and hepatocellular carcinoma.
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Immediate complications of liver transplantation include postoperative complications and organ rejection.
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Long-term complications after liver transplantation include the progression of disease in other organs.
Prognosis
The prognosis is poor in patients with the perinatal-onset and classic forms who do not undergo liver transplantation. Long-term prognosis for others, including patients with classic glycogen-storage disease type IV after transplantation, depends on the extent, severity, and progression of this multisystem disorder.
Patient Education
Educate patients and parents about proper diet management to support liver dysfunction.
Educate patients and parents about proper evaluation and long-term medical management of complications such as cirrhosis and portal hypertension, heart failure, and neuromuscular dysfunction.
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Liver section from a patient with glycogen-storage disease type IV (GSD IV) stained with hematoxylin and eosin. Characteristic findings include distorted hepatic architecture with diffuse interstitial fibrosis and wide fibrous septa surrounding micronodular areas of parenchyma. Hepatocytes are typically enlarged 2-fold to 3-fold, with faintly stained basophilic cytoplasmic inclusions.
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Liver section from a patient with glycogen-storage disease type IV (GSD IV) stained with periodic acid-Schiff (PAS) after diastase treatment. Coarsely clumped material cytoplasmic material representing the accumulated abnormal glycogen is resistant to diastase treatment and is readily stained with PAS.
