What is Fabry Disease?
Fabry disease is a genetic disorder resulting from a fat buildup in the body’s cells due to an enzyme deficiency. Some features of Fabry disease include episodes of pain primarily in the hands and feet, clusters of small dark red spotting on the skin (angiokeratomas), decreased ability to sweat (hyperhidrosis), cloudiness or streaking in the frontal part of the eye, ringing in the ears (tinnitus), hearing loss, and gastrointestinal issues.
How is Fabry Disease Diagnosed and Treated?
Healthcare providers will likely conduct one or more of the following tests to diagnose Fabry disease:
- Enzyme assay: this test measures levels of alpha-GAL enzymes in the blood. Individuals with Fabry disease will have a measurement of 1% or lower. This test is generally only used for males.
- Genetic screening: Because Fabry disease is genetic, DNA sequencing can be used to identify if the patient has the GLA gene mutation that causes Fabry disease.
- Newborn screenings: Some providers will test newborns for Fabry disease through an enzyme test.
There is no cure for Fabry disease. The two primary treatments used are biologic enzyme replacement infusions or oral treatment.
How Does IV Infusion Therapy for Fabry Disease Work?
IV infusion for Fabry disease involves administering medication through an infusion pump that drips the medication into a catheter to a syringe and through a hollow needle into the patient’s bloodstream. Treatments are usually given every two weeks, with each infusion lasting roughly between two-three hours.
Fabry Disease Therapies Administered at IX Health
The following infusion and injection therapies are administered at IVX Health.
Fabry Disease Management at IVX Health
Each IVX Health patient receives excellent care from Advanced Registered Nurse Practitioners (ARNPs) and Registered Nurses (RNs).
The benefits of receiving infusion treatments for Fabry disease at IVX Health include:
- Private suites
- Comfortable, leather recliners
- Enough room and plenty of seating for guests
- A friendly clinical staff
- Personalized service
- High-speed internet
- Complimentary beverages and snacks
- Flat-screen television sets provide a way for patients to stream their favorite movies and watch the shows they love
- Flexible scheduling options (including evening and weekend appointments)
What to Expect During Treatment of Fabry Disease
Step One
Using a thin, very small catheter, one of IVX Health’s nurses creates an intravenous line (aka IV line) into the patient’s arm vein.
Step Two
After placing the IV line, the nurse connects it to tubing that leads up to the medication. The medication is then dispersed into the patient’s bloodstream over a specified period of time.
During treatment, patients are continuously monitored by one of IVX’s nurses. If a patient requires assistance, he or she just needs to press the call button.
There are times when a patient experiences a reaction to the medication he or she is receiving; therefore, patients need to recognize the symptoms associated with an allergic reaction.
Signs of a potential allergic reaction include developing a headache, feeling nauseous, difficulty breathing and developing a rash. Patients experiencing these symptoms need to contact their nurse right away.
How to Get a Referral for Fabry Disease IV Infusion Treatment
Every referral must be accompanied by an order for treatment.
Patient information should include:
- Name
- Current address
- Home and mobile phone number
- Insurance information
Information the physician must include on the patient’s order for IV therapy to treat Fabry disease include:
- Patient’s name and DOB
- Order date
- Diagnosis
- Physician’s name and NPI#
- Office address, phone, and fax numbers
- Provider’s signature
Supporting clinical documentation from the physician should include:
- Clinicals to support that the patient has Fabry disease
Due to the complexity of treatment, prior authorization is often required. Prior authorization is the process of getting approval for treatment from the patient’s healthcare provider before beginning treatment. It’s important to check in with your healthcare provider to see if a prior authorization will be needed for your infusion or injection treatment at IVX Health.
If you have Fabry disease, and you would like to learn more about the IV infusion therapy for Fabry disease available at IVX Health centers, contact us today.
