Andersen disease is a multisystem disorder that may affect the liver, voluntary (skeletal) muscles, the heart, the nervous system, and other bodily tissues. Disease nature and course may vary in several aspects, including age at onset, associated symptoms and signs, degree of abnormal glycogen accumulation in various tissues, and specific organs affected.
However, the most common, classic form of the disease is typically characterized by progressive internal scarring (fibrosis) and destruction of liver tissue (cirrhosis), leaving areas of nonfunctioning scar tissue and gradually impaired liver function. In such cases, the disease typically becomes evident during infancy or up to about 18 months of age. Initial symptoms and signs commonly include failure to grow and gain weight at the expected rate (failure to thrive) and abnormal enlargement of the liver and spleen (hepatosplenomegaly). The cirrhosis typically progresses to cause high blood pressure in veins from the spleen and intestines to the liver (portal hypertension); abnormal fluid accumulation in the abdomen (ascites); enlargement of veins in the wall of the esophagus (esophageal varices), which may rupture, resulting in coughing up or Vomiting of blood; and liver failure. In some cases, initial symptoms and findings associated with cirrhosis may include yellowish discoloration of the skin, mucous membranes, and whites of the eyes (jaundice); mental confusion; and/or other abnormalities. Rarely, liver cirrhosis associated with Andersen disease may also lead to abnormally reduced blood glucose levels (hypoglycemia). In most individuals with classic Andersen disease, progressive liver disease may lead to liver transplantation or potentially life-threatening complications by approximately age five years. However, some rare cases have also been reported in which affected individuals have nonprogressive liver disease. In some of these cases, mildly affected individuals may not have apparent symptoms (asymptomatic).
Several neuromuscular variants of Andersen disease have also been described in the medical literature. Most commonly, there may be primary or isolated muscle involvement beginning in late childhood, with disease of skeletal and/or heart muscle (myopathy and/or cardiomyopathy). Accumulation of abnormal glycogen in skeletal muscle may lead to muscle Weakness and fatigue, exercise intolerance, muscle wasting (atrophy), and/or other symptoms and findings. In those with cardiomyopathy, weakening of heart muscle may lead to stretching and enlargement (dilation) of the heart’s lower chambers (ventricles). Dilated cardiomyopathy may gradually lead to weakening of the heart’s pumping action, causing an impaired ability to circulate enough blood to meet the body’s requirements for oxygen (heart failure). Associated symptoms and findings may include fatigue; irritability; feeding difficulties; lack of appetite; failure to thrive; Shortness of breath with exertion and eventually at rest; an abnormal accumulation of fluid in body tissues (edema); abnormalities of heart rhythm (arrhythmias); and potentially life-threatening complications in some cases.
A neuromuscular variant has also been reported that is evident at birth. This form may be characterized by generalized edema (hydrops), severely diminished skeletal muscle tone (hypotonia), muscle Weakness and atrophy, bending or extension of multiple joints in various fixed postures (contractures), and neurologic involvement, leading to potentially life-threatening complications early in life.
In addition, a rare neuromuscular variant has also been described in adults. This form of the disease, so-called adult polyglucosan body disease, may be characterized by dysfunction of the central and peripheral nervous systems. The central nervous system (CNS) refers to the brain and spinal cord. The peripheral nerves extend from the CNS to muscles, glands, skin, sensory organs, and internal organs. Peripheral nerves include motor nerves; sensory nerves; and nerves of the autonomic nervous system, which are involved in involuntary functions, including regulating blood pressure, temperature, and heart rate. In individuals with adult polyglucosan body disease, associated symptoms and findings may include sensory loss in the legs; progressive muscle Weakness of the arms and legs; walking (gait) disturbances; urination difficulties; mild cognitive impairment or dementia; and/or other abnormalities.