The Gaucher's Disease Unit at Shaare Zedek Medical Center is the leading facility for Gaucher's Disease patients in Israel. Here, thanks to the multidisciplinary team's comprehensive approach, patients receive integrated care, monitoring, and services under one roof:
- Specialized Gaucher's clinics for children and adults
- Day hospitalization for Gaucher's patients, including beyond the specialist's examination:
- Routine blood tests
- Assessment of the coagulation system before surgeries, invasive procedures, or childbirth
- Monitoring blood markers (biomarkers) that indicate "Gaucher cell burden" in the body
- Abdominal ultrasounds to calculate spleen and liver dimensions, and recently, midbrain ultrasound for detecting signs of Parkinson's disease.
- Echocardiograms
- Bone density tests
- MRI (requires additional authorization)
- Consultations in various medical fields such as gynecology, cardiology, orthopedics, pulmonology, anesthesia, genetics, and more
- Social support
- Gaucher's diagnosis tests and genetic counseling
Gaucher's patients come to our clinic for comprehensive baseline evaluation, follow-up tests, advice regarding specific situations like military service, marriage, pregnancy, etc., and, of course, to receive disease-specific treatment.
Our Gaucher's Disease Unit operates with senior experts from various medical specialties, including surgeons, orthopedists, gynecologists, pulmonologists, endocrinologists, hematologists, radiologists, and pediatric and adult neurologists. These experts are available for consultations with patients at different intervals throughout their ongoing follow-up. As our unit is one of the largest of its kind globally, with a history of over 900 adult and pediatric Gaucher's patients under follow-up for more than thirty years, each of these specialists has substantial experience in managing the disease and contributing to the improvement of the patients' health. It is important for Gaucher's patients to be followed by a dedicated center with extensive experience in treating the disease. The recommended follow-up frequency is usually every six months to a year, depending on the patient's condition.
Background:
Philip Gaucher (1854-1918) first described Gaucher's Disease in 1882. Fifty years passed before the disease's cause was found – the accumulation of glucocerebrosides (sugar fat) in the macrophages (giant engulfing cells) in the spleen, liver, and bone marrow. Occasionally, the disease may also involve other organs and systems, and there are also rare types affecting the brain (Types 2 and 3).
The accumulation of Gaucher cells in the macrophages causes enlargement of the spleen and liver, decreased blood cell count (mainly decreased platelet count - thrombocytopenia, and decreased hemoglobin - anemia), and bone involvement, including bone pain, tendency to fractures, and osteolytic lesions. The disease's clinical expression may vary among different patients, so follow-up and treatment should be tailored to each individual's condition.
Gaucher's Disease Type 1 is relatively common among Ashkenazi Jews, where one in every seventeen individuals (1:17) is a carrier of a faulty copy of the GBA gene, and one out of every eight hundred individuals (1:800) is affected by Gaucher's Disease Type 1. The disease's prevalence in other populations is approximately 1:50,000.
The main turning point in the treatment of Gaucher's Disease occurred in 1991 when an effective treatment was first introduced: the enzyme replacement therapy based on recombinant human glucocerebrosidase (Imiglucerase), whose marketing began in 1994. The cost of the treatment was initially very high, as it required 22,000 human placentas to produce a sufficient amount of enzyme for one patient's treatment for one year. However, in subsequent years, the enzyme was also produced through genetic engineering (recombinant enzyme) (Imiglucerase). With its worldwide marketing, it became the most sold enzyme worldwide, but the treatment cost remained high despite lower production costs.
The enzyme treatment, administered intravenously every two weeks, significantly improved the disease symptoms, reduced the size of the liver and spleen, increased hemoglobin and platelet levels, reduced the risk of bleeding, and prevented bone disease. In children, normal growth and development were achieved for many patients, while in the past, some children had growth problems. For about a decade, there was only one effective treatment for Gaucher's patients, and at that time, there was a discussion mainly regarding the high cost of the drug. What are the criteria for treatment, and what is the required dosage? Should all patients receive the high dosage determined in clinical trials for drug approval, or is a lower dose sufficient to prevent/eliminate glucocerebrosides' accumulation?
The exclusivity of the treatment changed in 2000 when a substrate reduction therapy (Miglustat) was introduced, which inhibits glucocerebrosides' synthesis. However, due to reduced efficacy and multiple side effects, this treatment is not included in the Israeli drug basket, and its marketing volume worldwide is very low. Later on (in 2010 and 2012), two more types of alternative enzyme therapies were introduced - Velaglucerase and Taliglucerase - as well as another oral treatment that inhibits glucocerebrosides' synthesis (Eliglustat).
Although having multiple treatment options is advantageous, sometimes, the variety of options may also create challenges. In today's consumer world, having too many choices can make it difficult to decide and affect our confidence in making the right choice. So, what happens when there are many treatment possibilities? Who really decides what is suitable? The doctor? The patient? What is the potential influence of pharmaceutical companies on the treatment choice? How much weight does the health insurance company have in deciding the treatment?
Given these dilemmas, it is essential that Gaucher's patients are followed by a specialized center with extensive experience in managing the disease and without any external interests.
Enzyme replacement therapy is administered through intravenous infusions, once every two weeks. Most patients receive the treatment at home with the help of a home care nurse. Recently, two studies were completed, showing that Velaglucerase infusion time can be shortened from one hour to ten minutes. At this stage, the shortened infusion time has proven to be safe and effective for this enzyme, and we received institutional approval to implement the change gradually within the day hospitalization framework.
The connection between Gaucher's Disease and Parkinson's Disease was first described in our clinic in the mid-1990s. Today it is known that there is an increased risk (3 to 15 times higher compared to the general population) of developing Parkinson's not only in Gaucher's patients but also (and perhaps even more) in carriers of Gaucher's Disease. As a unit that follows hundreds of Gaucher's patients and knows many carriers and their families ("obligate carriers"), we are at the forefront of research to clarify the link between the diseases and prepare for clinical trials for Parkinson's prevention. For more details, feel free to contact us.
Recently, we have launched a unique app for Gaucher's patients – My
Gauch. Through the app, patients can track their treatment and blood test results, report bone pain and fatigue, and monitor physical activity and nutrition. The app also improves direct communication with our unit via text messages and provides access to medical information about Gaucher's Disease. For more details, you can contact us.
To schedule an appointment for Gaucher's diagnosis and/or genetic counseling, please contact our unit's secretaries. The Ministry of Health codes for Gaucher's diagnosis are 332J0 and J0331.