Living with Gaucher Disease: a guide for patients, parents, relatives and friends
(Espanol) (Italiano) (на русском языке) (БЪЛГАРИЯ - Bulgarian/Macedonian/Yugoslav)


Contents Page


Contents of Living with Gaucher Disease

Introduction
What is the history of Gaucher disease?
Gaucher disease: The most common lysosomal storage disorder.
Is there a typical Gaucher individual?
What is Type 1 Gaucher disease?
What is Type 2 Gaucher disease?
What is Type 3 Gaucher disease?
How does someone get Gaucher disease?
How is the disease diagnosed?
What are the emotional and social aspects of Gaucher disease?
Is there treatment for Gaucher disease?
Other treatments for Gaucher disease
What support is available for Gaucher disease?

Introduction

If you have just learned that your, your child, a relative, or a friend has Gaucher disease, the odds are that this is the first time you have ever heard of this disorder. Gaucher disease is not very common, and until recently it has received very little public attention.

Uncertainty can breed concern and the anxiety many individuals have about the disease is due in part to a lack of information. In fact, since Gaucher disease was first identified over 100 years ago, much has been learned about the nature of the disease, as well as how the syptoms and psychological effects can be managed. Research conducted over the past 30 years has also led to new approaches to treatment that can reverse the major symptoms of the disease.

This brochure is intended to help you and your family discuss Gaucher disease with your physician and other health professionals. It is designed to serve as a guide to understanding the disease, the people it affects, how others cope with the various symptoms, and the available treatment options.

Gaucher disease (pronounced go-shay disease) is an inherited disorder. People with this disease lack sufficient amounts of an important enzyme. This enzyme deficiency results in the accumulation of a fatty substance that is normally produced during the recycling of cells in the body. Symptoms of the disease can vary from very mild to severe, and they can appear at any time, from infancy to old age. In affected individuals, however, the genetic cause is present from the time of conception.

Individuals of any ethnic or racial background, including blacks and Hispanics, may be affected but it is more prevalent among people of Jewish origin.

What is the history of Gaucher disease?

Gaucher disease is named after the French physician Philippe Charles Ernest Gaucher, who first described this disease in 1882 in a 32-year-old person whose liver and spleen were enlarged. In 1924, the German physician H. Lieb isolated a particular fatty compound from the spleens of people with Gaucher disease. Ten years later, the French physician A. Aghion identified this compound as glucocerebroside. Glucocerebroside is a component of the cell membranes of red and white blood cells. In 1965, the American physician Roscoe O. Brady and coworkers demonstrated that the accumulation of glucocerebroside results from a deficiency of the enzyme glucocerebrosidase. Dr. Brady's research provided the basis for developing enzyme replacement therapy, using glucocerebrosidase to replace the missing enzyme in Gaucher patients.

Gaucher disease: The most common lysosomal storage disorder.

What is the basis of Gaucher disease?

The human body contains specialized cells called macrophages that remove worn-out cells by degrading them to simple molecules for recycling. This process is analogous to eating and digesting food. The macrophages "eat" worn-out cells and degrade them inside cell compartments called lysosomes that serve as the "digestive tracts" of cells. The enzyme glucocerebrosidase is located within the lysosomes and is responsible for breaking down glucocerebroside into glucose and a fat called ceramide.

People with Gaucher disease lack the normal form of the glucocerebrosidase enzyme and are unable to break down glucocerebroside. Instead, the glucocerebroside remains stored within the lysosomes, preventing the macrophages from functioning normally. Enlarged macrophages containing undigested glucocerebroside are called Gaucher cells. These cells are the hallmark of this disease. Gaucher disease is the most common of 10 so-called "storage" disorders. The most widely known of these disorders is Tay-Sachs disease.

What happens when Gaucher cells accumulate?

Gaucher cells most often accumulate in the spleen, liver, and bone marrow. However, they may also collect in other tissues, including the lymphatic system, lungs, skin, eyes, kidney, heart, and in rare instances, the nervous system. Frequently, an organ that contains Gaucher cells becomes enlarged and does not function properly, resulting in clinical symptoms associated with the disease. The type and severity of symptoms can vary widely among individuals. Some individuals experience no symptoms, while others may develop life-threatening conditions.

Gaucher cells in the spleen

One common site for accumulation of Gaucher cells is the spleen. Typically, the effects of Gaucher cell accumulation in this organ cause it to become enlarged and overactive. The enlargement may cause the abdomen to become distended so that a person appears overweight or looks pregnant. Normally, the spleen breaks down old blood cells at the same rate that new ones are produced in the bone marrow. When the spleen becomes overactive, it tends to break down red cells more rapidly than they can be produced and a deficiency develops. The deficiency in red blood cells results in anemia. Red cells carry oxygen from the lungs to all cells in the body. Because anemic patients lack sufficient red cells, they suffer from the effects of insufficient oxygen. As a result, muscle cells cannot produce the energy they need, and the tendency is to become easily fatigued.

Overactivity of the spleen can also cause a deficiency of white blood cells, which may reduce the body's ability to fight bacterial infections. Or an overactive spleen can reduce the number of blood platelets. A reduction in platelets lowers the body's ability to form blood clots, increasing the tendency for bleeding and bruising. As a result, frequent and heavy nosebleeds are common in people with Gaucher disease.

Gaucher cells in the liver

The liver is another frequent site for Gaucher cell accumulation. The liver can become enlarged and function abnormally. In some individuals the liver enlarges along with the spleen. In patients who have had their spleens removed, the liver may become dramatically enlarged due to the displacement of Gaucher cell accumulation from the spleen to the liver. The effects of abnormal liver function are usually minor, although a few people may develop cirrhosis. In cirrhosis, the liver develops scar tissue.

Gaucher cells in the bone marrow

The other common site where Gaucher cells collect is the marrow inside bones of the skeleton. The accumulated Gaucher cells reduce normal bone marrow function in the areas where the Gaucher cells are most concentrated. This can lead to the variety of bone problems that are commonly found in people with Gaucher disease. For example, Gaucher cells in the bone marrow can interfere with the production of blood cells (the marrow is one of the normal sites in the body where blood cells are formed), compounding the deficiencies caused by an overactive, enlarged spleen.

Bones affected by Gaucher disease may be more prone to infection. The bones may be thinner or weaker than normal, or they may be deformed. In addition, "bone crises" can occur when there is a sudden lack of oxygen in an area where Gaucher cells have interfered with normal blood flow. These episodes can be extremely painful, feeling like a "heart attack of the bone." The restriction in blood flow can also result in destruction of bone tissue (called aseptic necrosis) and lead to permanent mobility problems.

In addition, the bones may become brittle and subject to spontaneous fractures. If these fractures occur in the spinal column, they are called compression fractures and can cause nerve damage. Individuals with Gaucher disease often complain of general bone and joint pain. This pain is probably due to inflammation in the skeletal system caused by the presence of Gaucher cells.

Is there a typical Gaucher individual?

Although all people with Gaucher disease lack normal levels of glucocerebrosidase activity, there is a variation from person to person. As a result, the timing and severity of symptoms vary greatly. At present, Gaucher specialists divide the disease into three classifications: Types 1, 2, and 3, based on the particular symptoms and course of the disease. In general, the later in life the first symptoms appear, the less likely that the disease will be severe.

What is Type 1 Gaucher disease?

Type 1 Gaucher disease, the most common form, is often but misleadingly referred to as adult Gaucher disease. Individuals of all ages can be affected. The defective genes are found in 1 in 100,000 people in the general population. The defective genes are more common among Ashkenazi Jews, occurring in 1 out of every 850 births within this population. Because Type 1 Gaucher disease does not affect the nervous system, it is sometimes referred to as non-neuronopathic Gaucher disease.

Type 1 Gaucher disease has a particularly wide variation in clinical signs, symptoms and disease course. Many people with Type 1 disease have no clinical symptoms and lead normal lives. In some cases, however, the disease may become life-threatening. In general, the later in life the first symptoms appear, the less likely that the disease will be severe.

Perhaps the most common sign of Type 1 Gaucher disease is an enlargement of the spleen and/or liver. Overactivity of the enlarged spleen may result in an increased tendency for bleeding due to decreased platelets or fatigue related to anemia. Spleen enlargement is often the most frequent initial finding and may be first recognized when the child is as young as 6 months. The spleen may become sufficiently enlarged to affect the child's mobility and to attract attention. A child with severe disease may he shorter than average and may adopt a swayback posture to support the weight of an enlarged abdomen.

Skeletal symptoms of bone involvement can occur at any time in life: in children as young as 2 years of age, or in adults as old as 70. In more than half of the people with Type 1 Gaucher disease, x-rays reveal a characteristic deformity called the "Erlenmeyer flask deformity" in the thigh bones. The thigh bones have a flaring at the knee (resembling and Erlenmeyer flask), instead of having a normal rounded shape. Some of the signs and symptoms that may be experienced by people with Type 1 Gaucher disease are shown in the table below.

Signs and symptoms of Type 1 Gaucher disease

Generalized fatigue

Abdomen

Skeletal system

Lungs

Kidneys

Skin

Blood

Digestive

Most people with Gaucher disease do not develop all of the possible symptoms. In addition, the severity of the disease varies enormously.

What is Type 2 Gaucher disease?

Type 2 Gaucher disease is a very rare, rapidly progressive form of the disease that affects the brain as well as the organs affected by Type 1 Gaucher disease. Formerly called infantile Gaucher disease, Type 2 is characterized by severe neurological involvement in the first year of life. Thus, it is also called acute neuronopathic Gaucher disease. Fewer than I in 100,000 newborns have Type 2 disease. This form of Gaucher disease does not appear to be concentrated within any particular ethnic group.

Infants with Type 2 disease typically appear normal during the first few months of life before developing neurologic symptoms and many of the symptoms associated with Type 1. An afflicted child usually does not live past the age of 2, due to the severe involvement of the nervous system.

What is Type 3 Gaucher disease?

Formerly called juvenile Gaucher disease, Type 3 is characterized by a slowly progressive neurologic disease. Type 3 Gaucher disease is also very rare. As in Type 2 Gaucher disease, it does not appear to be concentrated in any particular ethnic group, although a number of cases with Type 3 symptoms have been reported in Scandinavia, particularly Sweden, Spain and Japan.

The signs and symptoms of Type 3 Gaucher disease appear in early childhood. Other than the nervous system involvement, Type 3 Gaucher symptoms resemble Type 1. Type 3 individuals who reach adolescence may survive into the third or fourth decade.

How does someone get Gaucher disease?

Gaucher disease is inherited

Much of a person's makeup is a result of what is inherited from each parent. Certain characteristics, such as eye colour, height, and genetic disease are passed from parents to children. The genes for these characteristics are organized on 23 pairs of chromosomes. Genes contain the blueprints that the body's cells use to produce proteins, the budding blocks of life. Each chromosome contains thousands of genes. An individual normally inherits one copy of each gene from each parent.

The genes for glucocerebrosidase are also passed on from parents to children. In Gaucher disease, the blueprint for the glucocerebrosidase enzyme (a type of protein), is defective. As a result, the glucocerebrosidase produced from the defective genes is unable to perform its normal function.

Is the risk of inheriting Gaucher disease the same for males and females?

Copies of the gene for glucocerebrosidase are carried on a chromosome that is not involved in determining an individual's sex. As a result, the defective glucocerebrosidase gene can be passed on to either males or females. One pair of chromosomes, called the sex chromosomes, differs between men and women in a way that determines their sexual identities. The other 22 pairs of chromosomes are called autosomes. The gene for the glucocerebrosidase enzyme is on one of the autosomal chromosome pairs. Gaucher disease is referred to as an autosomal recessive disorder. Recessive refers to the fact that in order to develop the disease, an individual must inherit two defective copies of the gene, one from each parent.

Who are Gaucher carriers?

A person with one normal gene and one defective gene for glucocerebrosidase is a carrier of Gaucher disease. (Approximately 1 in 10 people in the Ashkenazi population are carriers.) Such individuals will not develop the disease because as long as one of the two genes for glucocerebrosidase is normal, enough glucocerebrosidase can be produced to prevent glucocerebroside from accumulating. Although a Gaucher carrier will have no symptoms of the disease, the odds are 50:50 that the "Gaucher gene" will be passed on to each of his or her children. A child will only develop Gaucher disease if he or she inherits a defective gene from both parents.

What are the odds of having children that have Gaucher disease or who are Gaucher carriers?

If both parents have normal genes for glucocerebrosidase, each child will inherit two normal genes, one from each parent, and will neither have Gaucher disease nor be a carrier.

If one parent is a carrier of Gaucher disease and the other parent is not, there is a 50:50 chance of having a child who inherits the "Gaucher gene" from the carrier parent, and becomes a carrier of the disease. None of the children will have Gaucher disease, because they will have one normal gene inherited from the other parent.

If both parents are carriers of Gaucher disease, with each pregnancy there is a 25% chance of having a child who inherits one "Gaucher gene" from each parent, and thus has Gaucher disease. There is a 50:50 chance of having a child who inherits a "Gaucher gene" from one parent and a normal gene from the other parent, and becomes a carrier of the disease. Finally, there is a 25% chance for each pregnancy of having a child who inherits two normal genes, one from each parent, and who neither has Gaucher disease, nor is a carrier (see following figure).

It must be emphasized that the odds for each pregnancy, of inheriting Gaucher disease, are totally independent of whether or not a previous child has the disease. Having one child with Gaucher disease does not mean that the next three children cannot inherit the disease.

If one parent has Gaucher disease and the other parent neither has the disease, nor is a carrier, all children will inherit the "Gaucher gene" from the parent with the disease, and will become carriers. None of these children will have the disease themselves (see following figure).

If one parent has Gaucher disease and the other parent is a Gaucher carrier, there is a 50:50 chance of having a child who inherits a "Gaucher gene" from each parent, and thus has the disease. There is also a 50:50 chance of having a child who only inherits the "Gaucher gene" from one parent, and becomes a carrier (see following figure).

If both parents have Gaucher disease, all of their children will inherit two "Gaucher genes" and will have the disease as well (see following figure).

Who should be tested for Gaucher disease for carrier status?

Because Gaucher disease is a genetic disorder, all close blood relatives of patients are at risk of having the disease, or are potential carriers of the "Gaucher gene." Families with a history of Gaucher disease may want to discuss the possibility of genetic testing with their physicians. To screen for the disease, a blood sample is taken to measure glucocerebrosidase activity. Depending on the level of activity found, a person may be diagnosed as having Gaucher disease or as a Gaucher carrier. For detecting carriers, the blood test is not always accurate due to the variation in enzyme levels. Amniocentesis and chorionic villi sampling (CVS) can be used to diagnose Gaucher disease early in pregnancy. Genetic counseling is available to couples who are found to be carriers or who have a family history of Gaucher disease.

How is the disease diagnosed?

The process of diagnosing many diseases, and especially Gaucher disease, is not always straightforward. Often, the patient initially visits the physician for another problem such as the flu, for nonspecific pain, or for a routine physical. Although making a diagnosis of Gaucher disease is not difficult, some symptoms may resemble other diseases. The physician may first perform other tests to eliminate from consideration more common disorders. For example, in cases where patients have low platelet counts, physicians may first test for leukemia. If a patient complains of joint pain, the physician may first suspect arthritis. Sometimes a specialist physician, like a geneticist or hematologist, may be helpful in distinguishing the symptoms of Gaucher disease from other diseases with similar symptoms.

Gaucher disease might be suspected in a person who has an unexplained enlargement of the spleen or a tendency toward bleeding, or bone or joint pains, or spontaneous fractures. A pediatrician might make the diagnosis in a child complaining of abdominal discomfort or of frequent nosebleeds. A hematologist might make the diagnosis in a person with low blood or platelet counts. An orthopedist might diagnose Gaucher disease in the course of treating someone suffering from frequent unexplained fractures. Gaucher disease would be particularly suspected in people with blood relatives who have the disease. Physicians should be notified if there is a family history of genetic disease.

Indications of Gaucher disease that are not noticed by the patient, but are very apparent in laboratory analysis include elevated levels of acid phosphatase and/or of angiotensin converting enzyme in the blood serum, and characteristic skeletal features as revealed by x-ray examination.

When Gaucher disease is strongly suspected, the diagnosis can be established by a blood test showing a significantly decreased activity level of glucocerebrosidase in white blood cells. DNA testing may also be used. If there is a question about the diagnosis, the physician may want to obtain a bone marrow sample to check for Gaucher cells in the marrow, or a skin sample. Certain skin cells called fibroblasts can be grown in culture and then used to measure glucocerebrosidase activity levels.

What are the emotional and social aspects of Gaucher disease?

People with Gaucher disease, their spouses, and friends may face a wide variety of emotional and social challenges in addition to the physical limitations or complications posed directly by the disease. Which issues have to be dealt with, and to what degree will depend directly on the severity of the disease in each individual. People with Gaucher disease may find that over time they experience some, none, or many of the following challenges.

What about the uncertainty?

One of the most common emotional concerns posed by Gaucher disease relates to the feelings of isolation and ignorance about the disease. There is often a feeling of great uncertainty because the symptoms and their severity may vary widely and they may occur at any time. Some people remain symptom-free for many years, while others may begin having symptoms very early in life. This uncertainty can add considerably to the usual difficulties in making short and long-term plans and in setting goals. In addition, people with Gaucher disease and Gaucher carriers face difficult decisions, with no easy answers, about marriage and children. For example, if they have the disease, will they have the physical stamina to raise children, or will their children be affected by the disease. However, this uncertainty sometimes adds to the development of exceptional inner strength that many people with chronic illnesses often possess.

Is the disease painful?

The pain associated with Gaucher disease can range from very mild to extremely severe. Coping with the pain if it does become severe can be a major challenge for people with Gaucher disease. At times painful episodes may occur involving enlarged organs or affected bones. These episodes usually resolve within a week or two, but they can last longer. Sometimes potent medication may be necessary to control the pain during these episodes.

Some people with Gaucher disease go through periods of severe skeletal pain known as "bone crises." Joints swell, become shiny, red and inflamed, and actually feel warm to the touch. Sometimes the slightest movement can elicit excruciating pain. if the pain becomes sufficiently severe, it may prevent people from moving about comfortably, or make it difficult to sleep.

Adults and the parents of children with Gaucher disease work with their physicians to learn which analgesics or pain relieving techniques work best for them. In addition, they learn how to manage their lives to minimize the pain.

Is fatigue a problem?

Another challenge faced by some people with Gaucher disease is fatigue that may occur as a consequence of anemia. People who are severely anemic may feel tired, even after a full night's sleep. Some children may lack the energy and stamina to play with other children. They may have difficulty staying alert in the classroom, or concentrating on their homework. It is important for many people with Gaucher disease to include naps in their daily schedules to help combat bouts of fatigue. Ordinary activities that a healthy person can do easily may require more effort for a person with Gaucher disease. Many people find that they can do what they please if they are careful to pace themselves and ask for help when it is needed.

How does the disease affect mobility?

At different times, the effects of Gaucher disease can irnpair mobility for some people. Walking can become tiresome and difficult- especially for long distances or up and down stairs. A decrease in mobility may occur as a response to a bone crisis or as a result of a bone fracture. The use of ambulatory aids such as a wheelchair, crutches, cane, or walker may be helpful in these situations. In rare instances, the lack of mobility may become so severe that a person requires hospitalization or confinement to bed. For children, this can result in missed days from school. Adults who are working may require extra time off from work. Life-style changes can help to conserve energy and minimize the strain on bones and joints.

How does Gaucher disease affect appetite?

Pronounced liver and/or spleen enlargement can frequently affect a person's appetite because of the pressure exerted on the stomach. People with Gaucher disease often report a sensation of feeling full, even after having only a few bites of food. The enlarged organs leave little room in the body cavity for a full stomach. People with Gaucher disease may take longer to eat because their stomachs fill up so quickly. The fact that they may not eat much can become distressing for themselves and for family members. In these situations, empathy about the difficulties associated with mealtimes is helpful. Those people with digestive difficulties will also discover which foods or eating habits should be avoided in order to minimize digestive complaints.

How does Gaucher disease affect appearance?

Body image can be a difficult challenge for Gaucher patients who suffer from pronounced spleen and/or liver enlargement. Children and adults may be teased or ridiculed and accused of being fat, looking pregnant, or otherwise of being "different." For children, who can be very conscious of their appearance, such treatment can be particularly unpleasant and can hurt their self-image. In addition to dealing with the inherent problems of Gaucher disease, they have to contend with unjust comments focused on their appearance. In these situations, shopping for clothes that fit properly and are comfortable becomes important for children and adults. Individuals with pronounced abdominal protrusions may find that clothes, which are loose fitting or made of stretch fabrics, are often the most comfortable. Dungaree jeans and other clothes with more defined waisthands may put too much pressure on the enlarged organs.

What happens to children with Gaucher disease?

Children with Gaucher disease may grow more slowly than other children. They may be smaller and shorter because more of their energy is used to cope with the disease, and less is available for the growth process. They may be below the normal percentile in growth and in weight for children of their age. These children may also appear clumsy and off-balance because of their enlarged organs. Parents and teachers may have the tendency to baby children with Gaucher disease because sometimes they appear younger than their peers.

Teenagers with Gaucher disease frequently experience a delay in the onset of puberty. By their late teens, most children with Gaucher disease catch up with the rest of the population. They generally obtain their genetically programmed height and experience normal sexual development. However, the delayed onset of changes may cause some psychologic difficulties during adolescence.

Depending on the severity of the disease, Gaucher children with reduced agility, with a tendency toward bleeding or bone fractures, or with enlarged spleens may be advised by their physicians to avoid contact sports. Instead they may be encouraged to take up noncontact sports, such as swimming, bicycle riding, or dance. If their physical endurance is low because of breathing difficulties or anemia, "nonaerobic" activities may he preferable. More severely affected children with Gaucher disease should be careful about playing sports if they are susceptible to bone breaks, bruising, and fractures. However, less affected children can certainly participate in all but the most aggressive contact sports. A child who is strong enough to he actively interested in sports should be encouraged to participate and to learn to gauge the limitations of his or her own body.

It is important to encourage other activities to help the more severely afflicted group of children with Gaucher disease to develop outside interests and healthy socialization skills. Children will often compensate for the things that they cannot do by excelling in other areas of their lives. Physicians and families can work together to determine which activities are most appropriate for children with Gaucher disease. Schools are often willing to develop alternate activities and programs for children with physical limitations.

What are some issues that may face parents of children with Gaucher disease?

Being the parent of a child with Gaucher disease can involve difficult decisions that other parents do not have to face, and for which there is often no clear advice. Gaucher parents must decide with their physicians, if their child's activity should be restricted. They must balance the physical risks with their child's need to fit in with other children. Gaucher parents must choose how and when to inform their child of his or her condition. They must decide whether to inform others such as school officials or friends. Parents must offer emotional as well as practical relief if their child suffers episodes of pain.

Family dynamics and relations between brothers and sisters (siblings) may shift as attention becomes focused on or away from the child with Gaucher disease. Marriages can come under stress. Siblings and/or parents may feel guilty or resentful.

The emotional issues associated with Gaucher disease can become especially upsetting for children who are at an age when it is so important "to be like" other children and to "fit in" with their group. They may become frustrated if they do not look like other children, and cannot always do the same things that other children can do. By understanding their child's emotional needs, parents can help the child to deal with the hurt that he or she may be experiencing. Physicians and other community resources can often bring invaluable support to families with chronically ill children. Sometimes just sharing these concerns with others can be very helpful.

What are some of the issues that face adults with Gaucher disease?

For individuals with Gaucher disease who first experience disabling symptoms in adulthood, the psychological impact can be great. Adults may feel that they used to have much more stamina to he able to enjoy the varied pleasures of life. They were busy with their families, careers, and social lives. They were independent and mobile. An abrupt onset of severe symptoms may suddenly interfere with career and life plans. For other adults who experience mild to minimal symptoms, the disease may have only minor effects on their lives. Sometimes, they forget about Gaucher disease altogether. As the disease progresses, some adults may feel drained and burdened by their limitations. They are forced to make life-style changes, to pace themselves, and to learn to adapt to their new situation.

Is there treatment for Gaucher disease?

Enzyme replacement therapy

Because people with Gaucher disease are deficient in glucocerebrosidase enzymatic activity, the most direct and logical therapeutic approach to this inherited disease is to supplement or to replace the missing enzyme. Dr. Roscoe Brady pioneered the development of this therapy at the National Institute of Neurological Disorders and Stroke. Initial research on the natural glucocerebrosidase enzyme showed that it was not particularly effective when administered by infusion to people with Gaucher disease. The majority of the enzyme did not reach the "Gaucher cells" in the body. Dr. Brady developed a form of the glucocerebrosidase enzyme that was modified to increase targeting and uptake in the macrophages, the cells where the enzyme is needed. Modified glucocerebrosidase enzyme (Ceredase) was evaluated in clinical trials which showed that repeated infusions of the enzyme reduced the signs and symptoms of the disease, and reversed the disease progression. This development was a very exciting one and represented the first true therapeutic breakthrough. Ceredase received FDA approval in 1992.

The production of the modified glucocerebrosidase enzyme using a recombinant cell line has been achieved, clinical testing has shown it to be effective and Cerezyme received FDA approval in November 1996. Since then Ceredase has been phased out and replaced by the recombinant product Cerezyme.

The administration of macrophage-targeted glucocerebrosidase is required at regular intervals throughout an individual's lifetime. As such, the enzyme is an effective therapy, rather than a cure. Currently enzyme replacement therapy is being used to treat around 4,000 Gaucher sufferers worldwide.

Managing symptoms

In the past, patient care and therapy for Gaucher disease was directed at managing (ie, relieving) the symptoms resulting from the accumulation of Gaucher cells in the various organs. Careful monitoring of the liver and/or spleen size and blood counts by a patient's physician helps to determine the appropriate therapy.

Depending on symptoms, therapy includes the following measures, either alone or in combination: bed rest, non-aspirin analgesics (aspirin inhibits the blood from clotting and is not advisable for people with Gaucher disease) and anti-inflammatories for acute and chronic pain, biofeedback techniques for pain management, hyperbaric oxygen therapy for the treatment of bone crisis, splenectomy (either complete or partial) for severe anemia, low platelet counts and mechanical obstruction. Sometimes bleeding from a minor wound may require medical intervention to avoid a major blood loss. Oxygen therapy may be necessary for people who have reduced blood supply to the lungs. Low blood count resulting from overactivity of a Gaucher cell-containing spleen is sometimes treated by blood and/or platelet transfusions, or by iron therapy to alleviate the anemia. In the case of a severe and persistent lowering of the blood count, physicians may decide to remove all or part of the spleen. Neither of these approaches is totally satisfactory. Iron therapy increases the risk of hemochromatosis (an iron surplus disease), while spleen removal increases the susceptibility to bacterial diseases and may lead to increased liver and bony symptoms. For these reasons, spleen removal is usually delayed as long as possible and partial spleen removal (which may be more difficult to perform) may be recommended over total removal.

Orthopedic evaluation and intervention may be required for many of the bone complications associated with Gaucher disease. These procedures include orthopedic surgical techniques to relieve pressure from damaged bony areas and/or the insertion of prosthetic devices (such as hip replacements) in joints that have been destroyed by the disease process.

Bone marrow transplantation has been tried as a treatment for severely ill people with Gaucher disease. Because it is such a high-risk procedure, and it requires carefully matched donors, bone marrow transplantation is not performed often. The procedure is generally reserved as a treatment option for terminally ill patients.

Other Treatments for Gaucher disease

Substrate Reduction Therapy: at the present time the only licensed product of this type is a drug called Zavesca which acts as an inhibitor of one of the key enzymes responsible for the formation of glycosphingolipids such as glucocerebroside.

The bisphosphonate group of drugs for osteoporosis and bone disease are useful for those Gaucher patients who have bone disease. Such drugs are Fosamax or alendronate; Didronel or etidronate; and pamidronate.

What support is available for Gaucher disease?

The majority of people with Type 1 Gaucher disease - even those with severe symptoms - are able to lead productive, happy lives. Just as each case of Gaucher disease is unique, each person with the disorder draws on a unique combination of inner and outer resources to meet life's challenges. These resources certainly include family, friends, others with Gaucher disease, physicians, and genetic counselors. There are also support groups now established in many countries around the world.


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This document has been altered in minor respects from the printed version. Last updated 25 January 2006. © Copyright 1991 Genzyme Corporation.