Gaucher Disease: Treatment, Procedure, Cost and Side Effects

There are a number of synonyms available for Gaucher disease. Gaucher disease is also known as cerebroside lipidosis syndrome, Gaucher splenomegaly, glucocerebrosidase deficiency, glucocerebrosidosis, glucosylceramidase deficiency, glucosyl cerebroside lipidosis, kerasin lipoidosis, kerasin thesaurismosis, lipid histiocytosis (kerasin type) and sphingolipidosis 1 in medical terms.

Gaucher disease is a rare inborn error in body’s metabolism that is caused due to deficiency of ß-glucocerebrosidase. It is the most common lysosomal storage disorder that affects the recycling of cellular glycolipids. Gaucher disease is the result of the build up of certain fatty substances in certain organs of the body, particularly the spleen and liver. Accumulation of fatty substances in these parts cause these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.

There are different types of Gaucher disease. They are-Norrbottnian Gaucher disease, type I Gaucher disease, type II Gaucher disease, type III Gaucher disease.

There are different signs and symptoms of this disease which vary widely. However, some people with Gaucher disease have only mild or no symptoms. Some common symptoms of Gaucher disease are abdominal problems. The liver and especially the spleen can enlarge dramatically and thus, the abdomen can become painfully distended. Gaucher disease can weaken the bone and lower bone density, hence increases the risk of painful fractures. It can also interfere with the blood supply to the bones, which causes portions of the bone to die. Gaucher disease can also cause blood disorders. A decrease in healthy red blood cells, known as anemia, can result in severe fatigue in patients. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds. Although rare, Gaucher disease can also affect the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures.

Treatment of Gaucher disease minimizes the symptoms and prevents permanent damage to the body. There are two types of Gaucher disease treatments. They are enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Enzyme replacement therapy (ERT) helps to balance low levels of GCase enzyme with another modified version of the enzyme. ERT treatment is done by receiving intravenous (IV) infusions about every 2 weeks. Substrate reduction therapy (SRT) helps in the reduction of the amount of glucocerebroside produced in the body. SRT is available as an oral medication for patients.

A diagnosis of Gaucher disease is considered in individuals with unexplained anaemia and easy bruising. They particularly face problems with enlargement of the spleen and liver and fractures. The diagnosis of Gaucher disease may be confirmed by a thorough clinical evaluation and a number of specialized tests. These tests measure acid beta-glucosidase activity in white blood cells (leukocytes) or skin cells (fibroblasts) and genetic (DNA) analysis for the causal gene defects (mutations). Prenatal diagnosis of Gaucher disease is possible. This is done through amniocentesis or chorionic villus sampling (CVS). During amniocentesis, a sample of fluid which surrounds the foetus is removed and analysed. CVS involves the removal of tissue samples from a portion of the placenta. Reduced beta-glucosidase activity in these fetal cells is indicative of Gaucher disease.

People with mild symptoms of Gaucher disease do not need any medical treatment. Gaucher disease cannot be cured, but treatment can help to control the symptoms, prevent irreversible damage and improve the quality of life. Gaucher disease conditions can be treated with medications and surgical operations. Enzyme replacement therapy (ERT) helps to replace the deficient enzyme with artificial enzymes. These replacement enzymes are provided in an outpatient basis through a vein (intravenous injection).These are given to the patient in high doses at two-week intervals. Miglustat also known as Zavesca, helps to interfere with the production of fatty substances that build up in liver and spleen of people with Gaucher disease. Eliglustat (Cerdelga) also has a similar function. Osteoporosis drugs help to treat the bone conditions, thereby improving the bone density and bone strength. When people have severe symptoms of Gaucher disease, they undergo surgical treatments in order to bring the situation under control and prevent complications. Bone marrow transplant treatment helps to remove and replace the blood forming cells which have been damaged by Gaucher disease. Spleen removal treatment is a very rare and lastly seeked procedure which reverses the signs and symptoms of Gaucher disease by spleen removal.

People with signs and symptoms of Gaucher disease should consult a doctor. Upon diagnosis, if Gaucher disease is detected, people become eligible for the treatment of Gaucher disease.

People with properly functioning abdominal organs and no damage or enlargement of liver or spleen do not need to consult doctors for medical treatment or care.

There are some minor side effects associated with the treatment medications of Gaucher disease. Occasionally people with Gaucher disease have an allergic or hypersensitivity reaction to enzyme replacement treatment. Diarrhea and weight loss are common side effects of miglustat medication. Side effects of cerdelga medicines include fatigue, headache, nausea and diarrhea in patients.

Gaucher disease is a lifelong disorder with no known cure yet. Patients should follow medical prescription and visit the doctor for check-ups after treatment.

Treatment of Gaucher disease varies from person to person with varying conditions. Patients with type 1 and type 3 symptoms of Gaucher disease heal and have a normal life expentancy. Treatment is unable to cure type 2 symptoms and people die within first two years of life.

Treatment of Gaucher disease involves a huge amount. An approximated amount of Rs 1.25 lakhs is needed for each dose of enzyme replacement therapy. As these treatments are carried out for the entire life of the patient, the expenditure sums up in crores and more.

Gaucher disease is a common disorder due to deficiency of ß-glucocerebrosidase. This disease has no permanent cure but symptoms of this disorder can be reduced effectively with proper treatment. Treatment helps to lower the symptoms and provide e better life to the patients affected.