| Medical Dictionary |
A Medical Dictionary of Medical Terminology
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Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly.
There are three types:
Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.
NIH: National Institute of Neurological Disorders and Stroke
Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.
Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They include oils, fatty acids, waxes, and cholesterol. If you have one of these disorders, you may not have enough enzymes to break down lipids. Or the enzymes may not work properly and your body can't convert the fats into energy. They cause a harmful amount of lipids to build up in your body. Over time, that can damage your cells and tissues, especially in the brain, peripheral nervous system, liver, spleen, and bone marrow. Many of these disorders can be very serious, or sometimes even fatal.
These disorders are inherited. Newborn babies get screened for some of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.
Enzyme replacement therapies can help with a few of these disorders. For others, there is no treatment. Medicines, blood transfusions, and other procedures may help with complications.
Every pregnancy has some risk of problems, but there are certain conditions and health issues that can raise that risk, such as:
Any of these can affect your health, the health of your baby, or both.
If you have a chronic condition, you should talk to your health care provider about how to minimize your risk before you get pregnant. Once you are pregnant, you may need a health care team to monitor your pregnancy. Some common conditions that can complicate a pregnancy include:
Other conditions that may make pregnancy risky can develop during pregnancy - for example, gestational diabetes and Rh incompatibility. Good prenatal care can help detect and treat them.
Some symptoms, such as nausea, back pain, and fatigue, are common during pregnancy. Sometimes it is hard to know what is normal. Call your health care provider if something is bothering or worrying you.
Pulmonary hypertension, sometimes called PH, is a serious condition that affects the blood vessels in the lungs. It develops when the blood pressure in your lungs is higher than normal.
Your heart pumps blood to your lungs so they can add oxygen to the blood. The blood goes back to your heart. From there, it travels to the rest of your body so that your tissues can get the oxygen that they need.
The blood moves from your heart to your lungs through blood vessels called pulmonary arteries. If the pulmonary arteries become damaged, narrowed, or blocked, the blood does not flow through them as well. This can increase the blood pressure in the arteries and cause pulmonary hypertension.
There are different types of pulmonary hypertension, including pulmonary arterial hypertension (PAH). The different types are based on what caused the disease.
What causes pulmonary hypertension?Pulmonary hypertension can develop on its own or be caused by another condition. Sometimes the cause is unknown or is not clear.
Some of the possible causes include:
Certain factors can make you more likely to develop pulmonary hypertension, such as:
The symptoms of pulmonary hypertension are sometimes hard to recognize and are similar to the symptoms of other medical conditions. So sometimes it can take years for someone to get diagnosed with pulmonary hypertension.
The symptoms of pulmonary hypertension may include:
Pulmonary hypertension can get worse over time and lead to serious problems, including:
To find out if you have pulmonary hypertension, your health care provider:
Often there is no cure for pulmonary hypertension, but treatments can help manage your symptoms. Your provider will work with you to come up with a treatment plan. It will be based on your needs and the cause of the pulmonary hypertension. The plan may include:
NIH: National Heart, Lung, and Blood Institute
Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat.
A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy.
You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.