As defined by the National Library of Medicine/National Institute of Health (NLM/NIH), Gaucher’s disease (GD) is a rare, inherited disorder that causes too much of a substance called glucocerebroside to build up in your spleen, liver, lungs, bones and sometimes in your brain. The buildup prevents these organs from working properly.
Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of GD.
GD occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder and occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon, and do not occur more frequently in people of Ashkenazi Jewish descent.
Unfortunately, GD has no cure. However, there are treatment options available. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of type 2.
Because GD is caused by genetic defect, there is no true way to prevent contracting the disease. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Kroger Specialty Pharmacy's total life care programs set a clear path to caring, compassionate therapy management and support.
Through these programs, we are able to provide GD patients, providers and partners with the necessary coordination of care vital to achieving successful treatment outcomes. By utilizing our expert patient care team comprised of Doctors of Pharmacy, registered pharmacists and nurses, reimbursement specialists and dedicated Patient Care Coordinators (PCCs), we are able to offer each and every patient and partner with high-quality, personalized care, ongoing patient evaluation and clinical support including frequent patient follow-up and continual education about their GD treatment.