Gaucher
What to expect with your patient’s Gaucher therapy
Burmans Specialty Pharmacy understands the special need of patients with Gaucher. Gaucher disease is a chronic, progressive, inherited genetic disorder. People with Gaucher disease lack sufficient levels of a particular enzyme. As a result of this enzyme deficiency, a fatty material, or lipid, accumulates in the body. Lipid accumulation in organs and bones can cause mild to severe symptoms that can appear at any time throughout life, from infancy to adulthood.
It is estimated that approximately 1 in 40,000 to 60,000 people in the general population have Gaucher disease, or about 10,000 people worldwide. Among Jews of Ashkenazi (Eastern European) descent, the incidence is higher: up to 1 in 450 people. The higher frequency of Gaucher disease among this population has led to the misconception that Gaucher disease is a “Jewish genetic disease,” but in fact, individuals of any ethnic or racial background may be affected.
Causes, incidence, and risk factors
Gaucher disease is the most common condition in a family of diseases known as lysosomal storage disorders. The enzyme that is not working well in Gaucher disease is called glucocerebrosidase (pronounced gloo-ko-ser-e-bro-si-dase). This enzyme helps the body break down glucocerebroside (gloo-ko-ser-e-bro-side), a fatty substance stored inside the lysosome, or tiny sac-like structure, of certain cells. With insufficient enzyme activity, glucocerebroside accumulates inside the lysosome and causes the cell to become bloated.
Clinical symptoms of Gaucher disease occur when lipid-engorged Gaucher cells cannot function as normal cells.
Gaucher cells accumulate and displace healthy normal cells in bone marrow and organs such as the liver and spleen. This accumulation causes a host of signs, including skeletal deterioration, anemia, and organ dysfunction.
Symptoms
Symptoms can appear at any age, but usually are first noticed in childhood or adolescence. They include:
- easy bleeding and bruising
- excessive fatigue
- anemia
- weak bones fracturing too easily
- bone and joint pain
- enlargement of the belly through increase in the volume of spleen and liver.
The type and severity of symptoms can vary widely among individuals. Some individuals do not experience any symptoms until they are elderly, while others may develop life-threatening conditions during childhood. Gaucher disease is progressive and, if left untreated, will usually become worse over time.
Signs of Gaucher disease may include abnormal blood tests such as too few red blood cells and/or platelets, or abnormalities on X-ray pictures such as bone deformity.
Signs and tests
Accurate and definitive diagnosis of Gaucher disease can be made with a simple blood test (or assay) that measures glucocerebrosidase enzyme activity. The blood sample can be taken in the physician’s office, but may need to be sent to a specialized medical center for analysis. In healthy individuals, the test shows white blood cells that contain normal enzyme activity; in individuals with Gaucher disease, enzyme activity is much lower.
Alternatively, the physician may obtain a skin sample, as certain skin cells called fibroblasts can be used to measure glucocerebrosidase activity levels.
A bone marrow biopsy is often taken when a physician suspects a blood cancer, such as leukemia. This bone marrow sample may be used to check for Gaucher cells. The cells are then viewed under a microscope. However, the definitive testing method for Gaucher disease continues to be a simple blood test (or enzyme assay) that measures enzyme activity.
Treatment
Enzyme replacement therapy (ERT)
The goal of ERT is to provide the appropriate amount of enzyme to allow waste material to be processed. Thus, enzyme replacement therapy works by supplementing or replacing the Gaucher patient’s missing or deficient enzyme. With ERT, smaller components of waste can be removed from cells by natural processes. However, ERT does not currently address conditions or symptoms related to the central nervous system of Types 2 and 3 Gaucher disease.
Substrate reduction therapy (SRT)
The goal of SRT is to minimize the amount of production and accumulation of waste material, or substrate, within cells. Thus, substrate reduction therapy (SRT) works by reducing the amount of waste that a cell makes. This means that even though patients are deficient in an enzyme that breaks down waste, with SRT, the enzyme they do have is better able to prevent waste from accumulating inside cells. SRT is for Type 1 Gaucher patients for whom ERT is not an option.
Symptom Management and Ongoing Care
Gaucher patients generally undergo a variety of types of medical care. Often a specialist in genetic diseases will oversee a patient’s care to monitor disease progression and lead medical decisions. Because Gaucher disease affects multiple parts of the body, patients frequently see multiple doctors specializing in different areas. Treatment options include various pain reduction therapies, blood transfusions, orthopedic surgery for bones and joints, and, rarely, splenectomy, or removal of the spleen.
The pharmacy care management team works closely with the patient, physician and care giver to establish a care plan that best meets their specific healthcare needs.
For patients with Gaucher, we provide the medication and support they need to lead active, full lives.
When you order your patients’ Gaucher medications through Burmans Specialty Pharmacy, you and your patients will receive fast delivery, expert support, and so much more.
- 24/7/365 patient support
- Free delivery & supplies
- Nursing support as needed
If you have questions about your patient’s medications, we can help. Call anytime – day or night – to talk to a registered nurse or pharmacist.
Call us toll free at: 1- 800-604-6068
An experienced team to help manage your patients’ Gauche treatment
We incorporate the following into our Gauche treatment program:
Assessment – After you place your patient’s first order, a patient care coordinator (PCC) will contact them to verify key information – such as age, weight, dose, any allergies, and shipping address. The PCC will assess the patient’s healthcare and support needs. We will determine if the patient needs more help understanding their condition or medication.
Clinical help – If you or your patients have any questions, our pharmacists are always available to assist. Patients who require nursing support they will be assigned nurse who specializes in Gauche. The pharmacy care manager is a registered pharmacist who will contact their assigned patient regularly to check on them.
Education – We will send your patients a welcome packet to explain our services. Depending on each patient’s need, a nurse or pharmacist who specializes in Gauche will provide additional education. Each new patient receives a welcome and all ancillary supplies to initiate the start of therapy.
If your patient meets medical approval for home health care, we can arrange for a home health care nurse to administer their therapy in the comfort of their home. And we’ll keep in contact with you so you know how your patient is doing between office visits.
Extra service at refill time – We will call your patient one week before their refills are due to schedule their next delivery. We inquire on patient’s inventory levels. We will ask your patient to confirm:
- How they are doing with their therapy.
- If they are still taking the same specialty drug.
- If they are still taking the same dose.
- If they are having any side effects.
- If they need additional supplies.
- Where they would like their next refill delivered.
If your patient needs help, we’ll put them in touch with a pharmacist. We may also reach out to you to talk about your patient’s medication or dose.
Open lines of communication – Our clinical team works closely with you and your patients. A pharmacy care manager will call each patient as often as they need. If your patient expresses any concerns about their medication or dose, we will contact you to discuss.
Product integrity – We take care of your patients’ medications. Our pharmacists will double check each order to make sure it’s right before it goes out the door. Our special packaging keeps your medications at the right temperature.
Dependable Delivery – We can send your patients’ medications by UPS or our dedicated delivery personnel – anywhere. That includes the patient’s home, your office, infusion center, or any other location. We track each shipment through our UPS tracking system. This ensures your patients receive safe, quick delivery of their medication.
Improvement plans – We constantly evaluate the success of our Gauche program through patient and physician satisfaction surveys.
How to order
Follow these three easy steps to start your patients on service with Burmans Specialty Pharmacy. We’ll take care of everything else.
- Complete a Burmans Specialty Pharmacy Medication Request Form for each patient.
- Indicate delivery arrangements on the form.
- Fax your referral to Burmans Specialty Pharmacy at 1-800-599-5560