Gaucher disease experience and treatment

<body> <h1><b>Gaucher in general </b></h1> <h1><b>Gaucher disease </b></h1> <div><a href="adult-life-gaucher.htm">Adult-life-gaucher</a></div> <div><a href="gaucher-medical.htm">Gaucher-medical</a></div> <div><a href="gaucher-nav.htm">Gaucher-nav</a></div> <div><a href="gaucher.htm">Gaucher</a></div> <div><a href="growing_up_with_gaucher.htm">Growing Up With Gaucher disease</a></div> <div><a href="index.htm">Index</a></div> <div><a href="treatment-gaucher.htm">Treatment-gaucher</a></div> <div><a href="who-am-i.htm">Who-am-i</a></div> <p><b></b></p> <p><b> What is Gaucher disease? </b></p> <p> Gaucher disease is a rare genetic condition that is one of the lysosomal storage diseases. Lysosomes are small organs in a cell that, with the aid of enzymes, handle the recycling process of many substances in the body. The incomplete functioning of these enzymes or the lack of one of these enzymes means that (waste) substances are stored in the lysosome. This storage hinders the functioning of the lysosome and thus also the functioning of the whole cell. Due to the accumulation of (waste) substances in the lysosomes, conditions such as Gaucher disease are called lysosomal storage diseases. </p> <p> The storage in Gaucher disease is due to disrupted activity of the enzyme glucocerebrosidase. This causes storage of glucosylceramide, a fatty substance. The storage may create medical problems that differ per person. Some patients experience many problems, others absolutely none. </p> <h2> Forms of Gaucher disease</h2> <p><b> What forms of Gaucher are there? </b></p> <p> There are three forms of Gaucher disease: </p> <p> - chronic form (adult form, type 1) </p> <p> - acute form (type 2) </p> <p> - sub-acute form (type 3) </p> <p> Type 1 is the most prevalent form and for this type tiredness, anemia, bleeding, liver and spleen enlargement and damage to bones are the most significant symptoms. These symptoms may already start during childhood but the disease may also manifest itself in adults. </p> <p> Type 2 is a rare and rapidly developing condition that damages the nervous system as well as the organs. </p> <p> Type 3 Gaucher disease is equally rare, but unlike type 2 this form progresses slowly. The symptoms of the type 3 Gaucher disease normally present themselves in early youth and concern both the nervous system and other organs. Since both types 2 and 3 of Gaucher disease damage the nervous system, they are also called the ‘neuropathic’ Gaucher disease. </p> <h2><b> Who gets of Gaucher disease?</b></h2> <p><b> Who gets Gaucher disease? </b></p> <p> Gaucher disease is a recessive genetic disease. This means that you only get the disease if both of your parents have received the gene for the disease. Of the Dutch population, one in 200 to 300 people is a carrier of the gene. The disease is therefore rare. Approximately one in 100,000 people gets Gaucher disease. There are probably a total of some 150 to 200 people in the Netherlands who have the disease. </p> <p> When someone has Gaucher disease, it may therefore be appropriate to investigate their brothers and sisters. The clinical genetics departments of the teaching hospitals provide further information on this. </p> <h2> Diagnosis </h2> <p><b> How is the diagnosis made? </b></p> <p> Since the first complaints are general and Gaucher disease is so rare, it may take a long(er) time before it has been properly diagnosed. </p> <p> Diagnosis may be made by simply examining the blood for the activity of the enzyme glucocerebrosidase, which is lowered with the disease. With tissue examination, accumulations of glucocerebroside can be ascertained in bone marrow and spleen. </p> <p> Imaging examination such as x-ray, computer tomography (CT) scan or magnetic resonance imaging (MRI) of the bone may reveal fractures or malformations. </p> <h2>Treatment options </h2> <p><b> What treatment options are there? </b></p> <p> You may compare the breaking down of red blood cells with working on a conveyor belt. In Gaucher disease, there are insufficient workers at this conveyor belt. This creates a sort of pile-up; what the workers cannot process piles up. This problem can be solved in two ways. You can add temporary workers or ensure that the worker does not have to do any more work than he can manage. </p> <p> A possible treatment for Gaucher disease can be compared well with this temporary worker on the conveyor belt. By regularly administering additional enzyme (the drug Cerezyme®), the problem is solved. The rate of the breakdown is there sufficient again to prevent the piling up of waste products. Cerezyme® is administered approximately every 2 weeks via infusion and takes about 1-2 hours per infusion. </p> <p> This form of treatment is also called Enzyme Replacement Therapy (ERT). </p> <p> For people with type 1 Gaucher, for whom ERT treatment via infusion is not suitable, a treatment in pill form has recently become available, Zavesca®. </p> <p> Treatment with Zavesca® works differently. This drug ensures that less breakdown product (glycosylceramide) occurs. It thereby reduces the piling up on the conveyor belt. The enzyme that does not work properly in patients with Gaucher disease receives less work to do. No new piling up of waste products arises. </p> <p> Zavesca® is taken 3 x daily in tablet form. This form of treatment is called Substrate Reduction Therapy (SRT). </p> <h2> Specialist terms </h2> <p><b> Explanation of specialist terms </b></p> <p> Doctors often use specialist terms to be able to state precisely to each other what is going on. Since they speak this language daily, they also sometimes use some terms with patients. It may therefore be useful to understand some of these specialist terms. This list may help with this. This list also gives somewhat more explanation on the occurrence of some symptoms. </p> <p> <b>Anemia:</b> shortage of red blood cells. A frequently occurring symptom of Gaucher disease. Due to this, oxygen cannot be transported properly through the body. This leads to complaints of tiredness. </p> <p> <b>Bone marrow</b>: tissue on the inside of bones (mainly flat bones such as breast bone, jaws, vertebra) where the various blood cells and blood platelets are produced. </p> <p> <b>Blood platelets:</b> a type of blood cell (but smaller) that plays an important role in blood clotting. If there are too few blood platelets (thrombocytopenia), bleeding may occur. </p> <p> <b>Enzyme:</b> active protein. Thousands of different enzymes are active in the body, which handle a great many different vital functions such as digestion, energy provision, the creation and breakdown of cells, etc. In Gaucher disease, a particular enzyme, glucocerebrosidase, does not function adequately. </p> <p> <b>ERT (Enzyme Replacement Therapy):</b> This is the standard treatment for Gaucher disease. Via an infusion of the drug Cerezyme ®, the enzyme glucocerebrosidase is supplemented. </p> <p> <b>Erythrocyte:</b> red blood cell. These cells are responsible for the transport of oxygen from the lungs through the whole body. </p> <p> <b>Gaucher cell:</b> Cell filled with breakdown products of red blood cells (macrophage). Gaucher cells are responsible for the symptoms of Gaucher disease. </p> <p> <b>Glucocerebrosidase:</b> this enzyme does not function adequately in patients with Gaucher disease. </p> <p> <b>Glycosylceramide:</b> this substance piles up in the Gaucher cells, since it is not broken down adequately. </p> <p> <b>Hemoglobin:</b> is a protein that occurs in the blood, usually in red blood cells, and this is responsible for the transport of oxygen through the blood. </p> <p> <b>Lysosomes</b>: bags filled with enzymes in some cells, which play a role in the breakdown of undesired substances in the cell. Since the enzyme that does not function properly in Gaucher disease is located in the lysosomes, this disease is also called a lysosomal storage disease. </p> <p> <b>Macrophages:</b> the cleaning up cells of the body. In Greek, macrophage means ‘large eater’. These cells specialize in the clearing up of everything that is not desired, from bacteria to the remains of cells. In Gaucher disease, they are unfortunately not able to clear up the remains of red blood cells properly. This means they change into large, swollen Gaucher cells. </p> <p> <b>Splenomegalia:</b> enlargement of the spleen. This frequently occurs with Gaucher disease. </p> <p> <b>Splenectomy</b>: removal of the spleen. If the spleen has swollen up too much, its removal may be necessary. </p> <p> <b>SRT (substrate reduction therapy)</b>: oral treatment of Gaucher disease, in which the amount of glycosylceramide is reduced by the drug miglustat (Zavesca ®). See also treatment. </p> <p> <b>Thrombocytes</b>: see blood platelets. </p> <p> <b>Thrombocytopenia:</b> shortage of blood platelets. In Gaucher disease, the blood platelets are often broken down too quickly in the spleen. This means that bleeding may arise. </p> </body>