Types of Familial Genetic Disorders

A genetic disorder can be described as an illness that is caused by abnormalities in the genes or chromosomes. There are some diseases that may be a cross between genetic and environmental factors, such as different types of cancers. Most genetic disorders only affect one person out of many thousands, sometimes even millions. There is such a thing as a single gene disorder that is the work of one single gene that has mutated. It is said there are over 4,000 diseases that humans may have that are caused by a single gene defect. These can be passed from generation to generation.

There are several different disorders, one of which is called “Familial hyperlipidemia.” This genetic disorder is associated with high levels of overall blood cholesterol, high serum low density lipoprotein cholesterol (or LDL), and low levels of high density lipoprotein cholesterol (HDL). Unfortunately for those with this disorder, chances for cardiovascular disease have also increased. The high cholesterol levels will begin in the teen years among those with the disorder, and people with the disorder are often found to be overweight and have problems regulating blood glucose.

Familial dysautonomia is another genetic disorder, but this one affects the survival and development of nerve cells. This will affect the cells of the autonomic nervous system that controls the body’s “automatic” body functions such as digestion, breathing, production of tears, regulation of blood pressure and the body’s temperature. With this disease the body cannot perceive pain, heat or cold which can cause many types of accidents, some fatal. The signs of this disease can be seen in infancy as poor muscle tone, lack of tears, feeding problems and frequent bouts of difficulty maintaining body temperature. As children get older they may become more immune to pain, heat and cold, but they can also experience vomiting, poor balance and bone quality.

Familial Mediterranean fever is another genetic condition that causes recurring episodes of very painful inflammation to the abdomen, the chest or the joints. The first occurrence usually happens in the early teens, but has been known to occur much later in life too. Each episode can last anywhere from twelve to seventy-two hours, and can be of any severity.

There are many other genetic disorders that are known, and if you think it may be possible that you have one, you should see a physician right away for testing.