Pain is a common symptom of Gaucher disease. It can severely restrict movement, and increases the chance of permanent disability.

Episodes of severe pain can occur in cases of bone tissue death due to lack of oxygen supply, a condition known as avascular necrosis or osteonecrosis. Pain also can be caused by other factors, including swollen organs, and as a result of bowel obstruction and gastrointestinal bleeding.

Several therapeutic options are available to relieve pain and restore mobility. The strategy for pain management depends on the patient’s age, and the duration, severity, and cause of the pain.

ERT and SRT

In children and young adults, enzyme replacement therapy (ERT) or substrate replacement therapy (SRT) often resolve pain. However, in advanced stages of Gaucher disease, and in older patients, the existence of arthritis and other neuromuscular conditions complicates the treatment. At that stage, both ERT and SRT may be inefficient in reducing pain, since they cannot reverse the damage that has already occurred.

Other medications

Commonly used medications for pain management in Gaucher disease include acetaminophen, and non-steroidal anti-inflammatory drugs (NSAIDs) like ibuprofen.

In cases of pain due to peripheral neuropathy, therapeutics such as gabapentin and Lyrica (pregabalin) may be useful.

Opioids like oxycodone may be considered for cases of severe pain. Doctors carefully assess the benefits and risks of opioids before prescribing them as they are highly addictive.

Non-drug therapies

Pain symptoms in Gaucher disease also can be managed in other ways in addition to medication.

Physiotherapy and occupation therapy under the guidance of specialists can help improve mobility and prevent frozen joints. A physiotherapist can design exercise routines that can improve the ranges of motion in the arms and legs. Occupational therapists can train patients in exercises that make day-to-day activities simpler, and promote independence.

Massage therapy can help with the movement of muscles, and thereby reduce pain. Electrical nerve stimulation can be used to stimulate different muscles in the body and reduce pain.

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Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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