Pain is one of the hallmark symptoms of Gaucher disease and is known to persist despite long-term enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). Depending on the severity, pain can affect quality of life and can cause disability.
Most pain in Gaucher disease patients is nociceptive (pain other than neuropathic pain) and often caused by enlarged abdominal organs or bone involvement. An accurate diagnosis of the cause of pain is difficult, but imaging tests such as MRI, X-ray, and bone scans can help.
Abdominal pain
Enlargement of the liver and spleen (hepatosplenomegaly) is commonly seen in patients with type 1 and type 3 Gaucher disease. Hepatosplenomegaly occurs when Gaucher cells (cells with large amounts of a fatty chemical called glucocerebrosidase) start accumulating within the liver and spleen. This causes the organs to become enlarged and results in pain in the abdomen.
Although rare, gastrointestinal symptoms such as bowel obstruction and gastrointestinal bleeding have also been reported in Gaucher disease. These can also contribute to abdominal pain.
Bone pain
Bone pain is often observed in Gaucher disease patients even if there have been no fractures or bone diseases. Bone pain can be the result of the infiltration of Gaucher cells into the bone marrow or due to the lack of blood supply to the bones, causing the death of bone tissue, a condition known as avascular necrosis or osteonecrosis.
Patients with type 1 Gaucher disease often experience a condition called bone crisis. A bone crisis is severe bone pain that occurs when blood flow to the bones is reduced. Pain and stiffness in joints may also be experienced due to arthritis (inflammation in joints).
Gaucher disease patients may have other skeletal diseases such as loss of calcium and minerals and osteoporosis (fragile and porous bones). This makes them vulnerable to fractures that can cause severe bone pain.
Treatment of pain
Current treatment methods for Gaucher disease can help alleviate pain to a great extent.
Physiotherapy, exercise, acupuncture, and nerve stimulation can help in reducing pain and improving the range of motion in joints. In more severe cases, orthopedic surgery can be performed to improve skeletal function and mobility.
If the pain is severe even after long periods of ERT, non-steroidal anti-inflammatory drugs (NSAIDs) or acetaminophen may be prescribed. In cases of extreme pain that does not subside, opioids may be prescribed, but these are highly addictive and usually not preferred. Alternatively, liver transplantation or splenectomy might be considered.
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