Gaucher disease affects bone function in several ways. Bone crises—excruciating pain in the bone—are the most severe. Fortunately, the complications can be significantly lessened and even prevented with the right care.

What is a Bone Crisis in Gaucher?

A bone crisis typically begins with sudden, severe pain often intense enough to require emergency care. “It’s essentially a heart attack in the bone,” explains Dr. Robin Ely, MD, Clinical Director of the National Gaucher Foundation.

Like the heart, bone tissue relies on steady blood flow. The pain happens when Gaucher cells (fat-filled immune cells) accumulate in the bone marrow, disrupting circulation and triggering inflammation. The resulting lack of oxygen leads to avascular necrosis (AVN)—the death of bone tissue. Hips and legs are particularly vulnerable because their blood supply is limited compared to other parts of the body.

People with Gaucher often describe a bone crisis as a deep, throbbing pain that comes on suddenly—pain so intense they can’t walk or move the affected body part. Some women compare it to childbirth, Dr. Ely says. Swelling, heat, and, sometimes, fever may accompany the pain.

Left untreated, bone crises can lead to lasting damage. Dr. Ely has seen how devastating these crises can be—and how much better the situation has become over her 40 years of treating patients with Gaucher disease. “When I first started, I’d see so many patients arriving in wheelchairs. Now, there’s almost nobody,” she says.

The difference? More patients are receiving enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).

Mitigating and Preventing Bone Crises

The advent of widespread ERT and SRT use means that many people with Gaucher can avoid bone crises. When the crises do occur, they are much less severe. ERT and SRT reduce the buildup of Gaucher cells before they cause damage.

Starting treatment for Gaucher disease early is crucial, Dr. Ely says. Patients and caregivers should not wait for symptoms to appear. They also should commit to their treatment routines. Interruptions can trigger rebound effects and lead to crises, she says.

Healthful habits

Maintaining a healthy lifestyle can also reduce the likelihood of a bone crisis and help to manage chronic pain.

Dr. Ely recommends that patients:

• Stay hydrated: Water and electrolytes support circulation and help enzymes work efficiently.
• Eat real food: Focus on water-rich fruits and vegetables, fiber, and a balance of plant and animal protein. Nutritional supplements can also support bone health.
• Stretch and exercise: Consistent, low-impact activity helps with both blood flow and tissue health.
• Consider lymphatic massage: It can help with circulation, especially if swelling is an issue. “You want your body to be like a flowing river, not a stagnant pond,” she says.

Don’t ignore it: get an MRI scan

Take sudden, severe bone pain seriously, Dr. Ely says. “Bone crises aren’t just painful—they’re a signal. A sign that the disease is active and affecting deep, vital structures,” she explains.

If severe pain persists for more than three days, contact your provider who can schedule an MRI scan, she advises. MRI is the best tool to detect early signs of AVN.

Treating Bone Crises in Gaucher

Timely management can reduce pain and prevent long-term harm. Treatment usually starts with anti-inflammatory medications like ibuprofen, along with hydration and rest. Dr. Ely strongly discourages opioids unless absolutely necessary.

She often recommends hyperbaric oxygen therapy (HBOT). It’s not yet a standard Gaucher treatment; it’s more commonly used for wound healing or diving injuries. But she calls it a “lifesaver” for people suffering a bone crisis.

“The problem is lack of oxygen. The answer is oxygen,” she explains. Inside a hyperbaric chamber, patients breathe 100% oxygen under pressure, allowing it to reach tissues that normally get very little blood flow. She has used it to resolve bone crises and even prevent the amputation of a teenager’s leg.

Many physicians may not be aware of HBOT for Gaucher patients, and insurance typically doesn’t cover it. More research funding is needed, she says. “There is no danger to HBOT when done at a certified HBO center,” Dr. Ely says. “There is ample support for HBOT based on a long history of using it for gunshot wounds, deep bone infections and other conditions.”

What’s Next in Gaucher Treatment?

While ERT and SRT remain essential, they don’t solve everything—especially when it comes to bone health. That’s because bone tissue is less accessible to infused enzymes compared to other organs.

Researchers are exploring new options, including:

• Drugs that more effectively activate the deficient enzyme
• Therapies that penetrate hard-to-access tissues
• Anti-inflammatory agents like etanercept (Enbrel), which may help reduce persistent inflammation
• Repurposed drugs, including Ambroxol, which may support enzyme activity in the brain.

Dr. Ely’s advice is to start available Gaucher treatment early. Stay consistent. Pay attention to your body. If you experience acute, severe pain, see your specialist and get an MRI scan. If you need help accessing treatments such as HBOT, reach out to Dr. Ely through the foundation.

How the National Gaucher Foundation Can Help

If you or a loved one lives with Gaucher disease, the National Gaucher Foundation is here for your family. We offer resources to optimize your health with Gaucher disease and connect you with the support you need.

SOURCES

• Mayo Clinic – Hyperbaric oxygen therapy – https://www.mayoclinic.org/tests-procedures/hyperbaric-oxygen-therapy/about/pac-20394380