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A Better Path to Gaucher’s Disease

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At Axium Healthcare Pharmacy, Inc., we believe in a better quality of life for patients and their healthcare partners when treating and managing the most complex conditions such as Gaucher’s Disease. Through the provision of specialty products combined with personalized guidance and support from clinical experts, our patients, providers and partners have the best chance of achieving successful therapy management. With information and a helping hand, we make the path to better healthcare a little easier to navigate for everyone.

Specialty Products + Personalized Guidance + Unmatched Expertise = Improved Outcomes

What causes Gaucher’s disease?

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.

What is Gaucher's disease?

As defined by the National Library of Medicine/National Institute of Health (NLM/NIH), Gaucher’s disease 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.

Gaucher’s Disease (GD) is broken down into three types:

  • Type 1 – the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not involve the brain. It can occur at any age.
  • Type 2 – causes severe brain damage, appears in infants.
  • Type 3 – in type 3 there may be liver and spleen enlargement, and signs of brain involvement appear gradually.

What about Gaucher’s disease treatment?

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.

Prevention

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.

How a specialty pharmacy can help?

Axium Healthcare Pharmacy’s 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 Axium’s expert patient care team comprised of Doctors of Pharmacy, registered pharmacists and nurses, reimbursement specialists and dedicated Patient Care Coordinators (PCCs), Axium is 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.

Simply stated, we are your helping hand. We’re with you every step of the way on the path to better healthcare.