Jun - 3 - 2013

Gaucher Disease

Heredity plays an important role in making us the persons who we are today. Basically, it represents the passing of genes from parents to children, and if you look in a certain way today, you probably know that your parents’ genes have determined, and still do, your physical attributes and even your temper and personality.

We will surely tell you nothing new, if we say that genes also are responsible for various genetic diseases and disorders which currently affect children, men and women. Indeed, genes can dictate both physical attributes and diseases in people. Nowadays, there are many genetic disorders which turn into severe conditions and even cause the death of patients. Some of these conditions can appear in early childhood, while others affect middle-aged people. If we’re to name a few such diseases which are very common these days, we could mention Alzheimer’s disease, Huntington disease, Down Syndrome and various cancers like the breast, ovarian or prostate cancer. You should know that many disorders determined by genes still need medical research, in order to figure out right procedures and treatment methods for curing patients.

Gaucher Disease is just another name among the serious health problems which fall in the category of genetic disorders. This disease is caused by a genetic mutation which mostly affects spleen and liver’s normal functioning. Furthermore, it has been proved that this disorder is determined by an enzyme deficiency, which produces fatty substances to accumulate in certain organs and cells. Along with enlarged liver and spleen, other symptoms may refer to anemia, osteoporosis, neurological problems like dementia or retardation, cirrhosis and even an increased bleeding risk. Patients who are severely affected by this disease can also report an increased risk of catching various infectious sicknesses and illnesses. Thus, we can say that they concomitantly experience this genetic disease with weak immune system. Misdiagnosis because of clinical negligence is not unusual, and it can delay treatment and compromise successful treatment outcomes. Many of Gaucher disease’s presenting symptoms are found with other more common diseases. It is not uncommon for a medical health professional to perform the wrong tests because of clinical negligence. Many hematologists don’t suspect Gaucher disease even when the presentation is classic.

Gaucher Disease can occur both in men and women, with no clear report pointing out that men or women are more exposed to developing such genetic disorder. However, you should also know that there are three clinical sub-types of Gaucher Disease, namely: a non-neuropathic form, an acute infantile neuropathic type and a chronic neuropathic type. Each sub-type involves specific symptoms which refer to abnormalities in blood and organs.

The best way to figure out whether you suffer from this genetic disease or not is to visit a medical institution or private clinic and take blood tests. Luckily, this genetic disorder can be cured by following an enzyme replacement treatment.

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