How to Recognize Gaucher Disease

A lysosome is an important structure in a living cell because it contains vital enzymes that are needed to rid the cell of waste. In Type I Gaucher Disease, there is a deficiency of glucocerebroside. This enzyme is responsible for the removal of wastes in the cell. Without it, the cell can not function properly and becomes bloated with waste products. A cell is classified as Gaucher when it is filled with waste and can not function properly. Fatty buildup then begins to affect various organs and parts of the body such as the liver, spleen, bones, and kidney. Symptoms are felt when normal cells swell with this buildup and can not do their job. Patients affected with Gaucher Disease may develop symptoms as early as childhood and yet others may not until they reach adulthood. Here are some typical signs and symptoms to look for if you suspect this rare disease.

Instructions

Difficulty: Challenging

1. Understand the abdomen tends to increase in size in this progressive disease. This is due to the enlargement of the spleen and liver that have swollen with Gaucher Cells. Since the spleen is the organ responsible for the filtration of blood cells, it enlarges up to 20 times its normal size. The malfunctioning spleen begins to remove cells faster than they can be replaced. The enlargement of the liver can also contribute to the enlargement of the abdomen.
2. Keep in mind a common complaint is fatigue or weakness. At times, this affects quality of life as you may not be able to do daily tasks as before.
3. You may bleed very easily from the nose and gums. Women may also notice a change in the length of their menstrual periods.
4. Know anemia is a common occurrence because red blood cells are destroyed by the spleen faster than the body can replace them. Anemia simply means that the body does not have enough red blood cells that it needs. Since red blood cells have the vital role of bringing oxygen to all the cells in the body, you may feel shortness of breath.
5. If you have this disease, you may have a weaker immune system. This is because the spleen removes white blood cells much faster than normal. White blood cells are needed to fend off viruses, bacteria, and any other insult that can occur in the body. You may also notice an increase in infections.
6. Bone pain can be excruciating due to Gaucher cells blocking the normal blood circulation to the bone. This state of crisis varies in length and these symptoms may be severe enough to warrant a stay in the hospital during this time.
7. You might have frequent fractures because your bones can become thinner and weaker. Even daily activity may place you at risk if Gaucher cells have affected your bone marrow.

Tips & Warnings

• It is difficult to pinpoint this disease because many physicians look for other common causes of symptoms.
• Those afflicted with this rare disease may find it worthwhile to explore genetic counseling to determine the chances of passing on Gaucher Disease to their child.