For many Gaucher patients, dealing with pain is one of the most difficult parts of living with the disease. Effectively treating pain requires finding its source, which isn’t always straightforward.
A variety of medications and therapies can relieve pain for Gaucher patients, although certain painkillers carry a high risk of addiction. A Gaucher specialist can help uncover the cause of pain and connect you with other experts to improve your daily functioning.
Identifying the Cause of Pain
The main challenge of Gaucher disease pain management is diagnosing the root cause of pain, which is critical to ensuring effective treatment. Bone problems are a common pain trigger, although abdominal pain can also occur in untreated patients due to organ enlargement.
Several factors make accurately diagnosing pain difficult:
- Few general practitioners have experience treating Gaucher disease and recognizing Gaucher-related pain.
- Physicians can have trouble distinguishing between osteomyelitis (bone infection) and bone crisis. A bone crisis is a severe episode of pain caused by reduced blood flow to bones.
- In older patients, conditions such as osteoarthritis, musculoskeletal disease and neuropathy can also contribute to pain. Neuropathy is numbness or pain as a result of nerve damage.
Imaging procedures such as MRI (magnetic resonance imaging), X-ray and bone scans can help pin down the exact cause of pain. Resolving pain issues often requires a team approach, involving medical professionals that may include:
- Primary care physician (PCP)
- Orthopedic (bone) specialist
- Neurology (nerve and spinal cord) specialist
- Pain management specialist associated with a hospital or university (as opposed to a standalone pain management clinic)
How to Manage Gaucher Disease Bone Pain?
How specialists manage pain depends on the patient’s age, duration of symptoms and previous bone complications.
In children and young teens, bone pain is almost always related to Gaucher disease, even without fractures or other major complications. When children have consistent pain for more than a day or two, ineffective Gaucher disease treatment is the likely culprit. An adequate dosage of enzyme replacement therapy (ERT) most often resolves pain for most children.
The older patients get, the more complicated pain management becomes. Many patients have had Gaucher disease long before treatment, causing irreversible and worsening bone problems. Treatments such as ERT and substrate reduction therapy (SRT) are unlikely to relieve symptoms when bone damage has already occurred. Doctors must also assess whether myeloma, a rare blood cancer, is causing new pain.
Preferred medications for Gaucher pain management include acetaminophen (Tylenol®) or non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen (Advil®). Doctors must carefully weigh the health risks before prescribing opioid drugs to treat pain. Opioid medications such as oxycodone (OxyContin®) are drugs with morphine-like effects, including a high risk of addiction. Patients with neuropathic (nerve-related) pain sometimes benefit from drugs such as gabapentin (Neurontin®) or pregabalin (Lyrica®).
Treatment for Gaucher Disease Pain Management
Medication isn’t your only option for Gaucher disease pain management. Other potentially effective treatments include:
- Physical therapy: Physical and occupational therapy can help prevent frozen joints and improve range of motion.
- Exercise: As inactivity worsens stiffness and pain, it’s important for Gaucher patients to get a reasonable amount of exercise.
- Massage therapy: For some patients, massage can help relieve pain associated with Gaucher disease.
- Nerve stimulation: Electrical nerve stimulation uses tiny electrical pulses to reduce pain.
- Acupuncture: In this ancient treatment, an acupuncturist inserts thin needles through the skin to stimulate specific areas of the body. Most patients report that acupuncture itself is painless, and often effective.
You should speak to your Gaucher specialist before taking any vitamins or herbal supplements, which can interfere with Gaucher disease medications.
If your doctor is not a Gaucher specialist, a physician on our Medical Advisory Board can speak to your doctor on your behalf. Find a Gaucher specialist with our treatment finder, or connect with our Medical Advisory Board for help explaining Gaucher disease to your doctor.