Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.
Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain,
fractures, and arthritis.
Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the
central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements,
seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but tends to progress more slowly than type 2.
The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.
Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).
Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased.
Arthritis is inflammation of one or more joints. When joints are inflamed they can develop stiffness, warmth, swelling, redness and pain. There are over 100 types of
arthritis including osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, lupus, gout,
and pseudogout.
The spleen enlarges if it is asked to do excessive work in filtering or manufacturing blood cells, if there is abnormal blood flow to it, or if it is invaded with abnormal cells or deposits. Symptoms of an enlarged spleen may include weakness and fatigue, easy bleeding, and poor white blood cell function. Treatment of an enlarged spleen is focused toward the cause of the splenomegaly. Surgery may be required to remove the spleen.
Epilepsy is a brain disorder in which the person has seizures. There are two kinds of seizures, focal and generalized. There are many causes of epilepsy. Treatment of epilepsy (seizures) depends upon the cause and type of seizures experienced.
Fractures occur when bone cannot withstand the outside forces applied to the bone. Fractures can be open or closed. Types of fractures include: greenstick, spiral, comminuted, transverse, compound, or vertebral compression. Common fractures include: stress fracture, compression fracture, rib fracture, and skull fracture. Treatment depends upon the type of fracture.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Seizures are divided into two categories: generalized and partial. Generalized seizures are produced by electrical impulses from throughout the brain, while partial seizures are produced by electrical impulses in a small part of the brain. Seizure symptoms include unconsciousness, convulsions, and muscle rigidity.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
The spleen is an organ located in the upper left quadrant of the abdomen just
below the diaphragm and protected under the lower left ribs.
The spleen has a couple of important functions involving blood cells within
the body.
It filters blood and removes old and damaged red blood cells,
bacteria, and other particles as they pass through the maze of blood vessels
within the spleen.
It produces lymphocytes, a type of white
blood cell that produces antibodies and assists immune system.
The
filtration system is part of the red pulp while the white pulp of the spleen
contains the immune functioning cells
Normally, the spleen is a small organ about the size of a small fist or
orange. Splenomegaly describes the situation where the spleen enlarges in size
(spleen+megaly=enlargement).
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