There are about 40 types of lysosomal storage disorders, but they all share the same cause: a problem that causes a specific enzyme in the body to work the wrong way, so that it can't properly clean waste material out of cells. This causes fats or other waste produces to be stored and build up in the part of cells known as lysosomes -- that's why it's called a lysosomal storage disorder. If untreated, this build-up can cause a host of devastating ills, including organ swelling, skeletal deformities, seizures, and heart problems.

The problem? One or two faulty genes. Every person's DNA contains multiple genes that tell our cells how to make key enzymes. Lysosomal storage disorders occur when a faulty gene fails to get the right instructions to the cells. As a result, the cells don't make enough functioning enzymes. Each type of lysosomal storage disorder can be traced back to a different faulty gene. For example, Gaucher's disease is caused by a mutation in the gene that codes for glucocerebrosidase, an enzyme that helps break down fatty compounds known as glucocerebrosides. Likewise, Fabry disease is caused by glitches in the gene that makes the enzyme ceramide trihexosidase.

The genes that cause lysosomal storage disorders are almost always inherited, which means that one or both parents also had the genes. In very rare cases, a disorder can be blamed on a brand-new mutation that happened during a child's development.

The good news is that treatments for lysosomal disorders like Gaucher and Fabry disease are better and more targeted than ever. Doctors can prescribe many different medications to ease symptoms of lysosomal storage disorders. But for most patients, replacing the missing enzyme is the real key to recovery and good health. The FDA has approved several medications containing artificial versions of enzymes. One of the oldest and most successful such medications is Cerezyme, a treatment for Gaucher's disease approved by the FDA in 1994. Fabrazyme, an artificial enzyme for the treatment of Fabry disease, was approved in 2003. These treatments are given through IV injections, usually every two weeks. Such treatments can dramatically relieve symptoms and prevent complications.

Unfortunately, artificial enzymes are extremely difficult and costly to make, and treatment can easily cost over $100,000 each year. Because lysosomal storage disorders are so rare, drug companies haven't been able to develop enzyme replacement therapies for every type of disorder. For example, there is no currently no enzyme replacement therapy for Tay-Sachs disease.

Although lysosomal disorders are hard to diagnose, there are some signs that appear in several types and are considered "red flags" (especially when a few of them are present at the same time). These include a purplish-blue skin rash, cloudy eyes, unusual facial features such as an enlarged tongue, muscle weakness or a gradual loss in motor skills, short stature and bone abnormalities, developmental problems, and a belly that sticks far out from the abdomen (which could indicate enlarged organs or hernias).

Most lysosomal storage disorders can be diagnosed with simple blood tests. That brings up a crucial and sometimes complicated question: Who should get tested? If one person in a family is diagnosed with a lysosomal storage disorder, other people in the family may either have the disorder or at least carry a faulty gene. If a child develops Gaucher's disease, any brothers or sisters should definitely be checked. Pregnant women who know that they are carriers for Gaucher's disease or other lysosomal disorder may decide to prenatal testing, if only so they can know whether or not their child will need a lifetime of treatment.

We'll make sure you get your prescribed therapies from our Specialty Pharmacy, along with the medically necessary supplies your doctor needs to safely and correctly administer your treatment.

Caremark has more than 25 years experience with injectable and infused medicines, working closely with each doctor, clinician and participant to make sure medicines are administered as effectively as possible. In addition to providing your prescribed medicines and supplies, Caremark Specialty Pharmacy Services helps in many other ways:

Education. We'll provide you with the information and resources to learn all about your specific lysosomal disorder.

Ongoing Communication. Your CareTeam will call you periodically to answer questions, help with treatment issues, schedule shipments, and support you in your treatment plan. We also communicate regularly with the manufacturers of these medicines so we can keep you informed about additional support materials and services.

Discreet Deliveries. We know how important your privacy is, so we'll ship your medicines in secure, plain, temperature-controlled packaging to your home, office or your child's doctor's office—at your direction.

24-Hour Availability. We're here when you need us. Our Specialty Pharmacy pharmacists are available 24 hours a day, 365 days a year, in case of emergencies.

With Caremark, you'll have a team of experts on your side, helping you get the most professional, caring and cost-effective service. If you would like to find out more about our services, please call CaremarkConnect® toll-free at 1-800-237-2767.

To inquire about or begin services with Caremark Specialty Pharmacy Services, please call or have your healthcare provider call CaremarkConnect® at 1-800-237-2767. You may also begin the enrollment process here. Once you fill out the requested information, one of our staff of specialists will contact you. Regardless of how you begin the process, our staff of specialists will work with you and your insurance carrier to confirm coverage for your treatment. We'll conduct a full benefits investigation for you for the medicines you may need.

A specialist will assist you with:

•Securing coverage for your new prescription

•Determining your coverage and minimizing out-of-pocket costs

•Processing insurance paperwork and coordinating benefits

•Handling prior authorization issues

•Obtaining all necessary authorizations

•Communicating your financial obligations verbally and in writing

•Assisting in the coordination of home administration services

•Arranging delivery of your medicines

•Coordinating the start of therapy with your doctor

To explore financial coverage alternatives when insurance is not available to you, we offer Caremark Customer Assistance at 1-800-331-7171. Our staff of specialists will work with you to explore coverage alternatives when insurance is not an option. Please feel free to call us with questions or problems.

Fabry Disease

Gaucher Disease

Other Lysosomal Storage Disorders

Gaucher Disease: The doctor who unraveled the mystery

First published June 16, 2009
Copyright © 2009 CVS Caremark

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