Andersen Disease Life Expectancy, Symptoms and Treatment

Andersen Disease Life Expectancy, Symptoms and Treatment

Andersen Disease have described by American pediatrician and pathologist Dorothy Hansine Andersen in year 1956. This disease have known as glycogen storage disease (GSD) type IV or Andersen’s Disease also. There is a deficiency of branching enzyme named alpha-1,4-glucan enzyme on GBE1 gene on chromosome 3. A rare glycogen storage disorder; Andersen Disease have reported in 1 of 700.000 peoples. This disease has an autosomal recessive transmission. For this reason it may seem more common in consanguineous marriage. All from 1 of 4 children can affected from this disease. Prenatal diagnosis may done to prevention of complications. Molecular genetic testing from fetal cells can show the genetic defect also.

Andersen Disease symptoms:

Infants with this disease may seen normal at birth. They will develop growth retardation in early period, before 1 of age. The most affected organ is liver. All this patients will die due to liver involvement also. Hepatosplenomegaly will seen always in these patients also. Progressive jaundice may seen, because liver involvement. Rarely peripheral nerves will affected also. Because of it, neuromuscular symptoms may evident. Weight loss and hypotonia may develop after. After a while, congestive heart failure may seen. Progressive cirrhosis with accompanying portal hypertension and ascites may seen before death. Esophageal varices will occur due to portal hypertension also.

Andersen Disease diagnosis:

  • Anemia and neutropenia is common in blood test. Blood glucose level will measured low than normal.
  • Liver function tests levels will increase due to hepatic involvement and cirrhosis.
  • aPTT, PTT and INR levels will increase also due to liver involvement.
  • In this patients hyperlipidemia have reported also.
  • An important blood test that will eleveate in this disease is serum creatinine kinase level also.
  • Then after, serum creatinine level will increase also. Then myoglobinuria in urine test will occur.
  • Varices in eusophagus in esophagogram or endoscopy may seen in these patients.
  • Irregular Technetium sulfur uptake in the liver may seen in technetium sulfur colloid liver scan. With it, increased uptake in the spleen will seen also.
  • Absence of branching enzyme activity of glycogen phosphorylase may seen in enzymatic studies of the liver also.

Andersen Disease management and treatment:

Andersen Disease is not curative.

For hepatic involvement one treatment option is liver transplantation.

With appropriate diet this disease progress will slow down. Vitamin and protein supplements may helpful also.

physical therapy is beneficial in skeletal myopathy or hypotonia that experience motor developmental delay.

Factors such as glycogen branching enzyme (GBE) activity may helpful but the affects are difference in all patients.

Cardiomyopathy development is a mortal symptoms for this disease, that cardiac transplantation will required. With it, before cardiac transplantation, myopathy, liver failure and treatment of cachexia must performed before this surgical option.

Andersen Disease lifespan:

Most children with Andersen disease will die before 2 years of age. If they survive the first year, will develop cirrhosis in age of 3 to 5 years and will die from chronic liver failure. In some mild forms of this disease, patients who survived to the age of 8 years have reported. But, all the infants that survived to 5 years have survived with liver transplantation only.

 

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