A man with Fabry disease experienced an easing of neuropathic pain, or nerve pain, with medical cannabis after failing to respond to standard therapies, a case study reports.
“A clinical trial, including more patients, is needed to establish efficacy and safety of this analgesic approach in patients with FD [Fabry disease] and neuropathic pain,” researchers wrote in the study “Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease,” which was published in the journal Molecular Genetics and Metabolism Reports.
Fabry disease is caused by mutations in the GLA gene, which codes for the alpha-galactosidase A enzyme. As a result of the lack of this enzyme, a molecule called globotriaosylceramide (Gb-3) accumulates within cells, leading to organ damage.
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Neuropathic pain is common symptom in Fabry
Neuropathic pain is one of the most distressing symptoms for Fabry patients and may not ease with standard treatments such as enzyme replacement therapy (ERT). This type of pain is prevalent in Fabry disease, affecting 81.4% of male patients and 65.3% of female patients, according to researchers.
Two main types of neuropathic pain occur in Fabry: ongoing pain in hands and feet, described as burning or tingling, and intense episodic pain episodes called “Fabry crises.” The mechanisms involved in this type of pain are complex and linked to damage in the small nerves in the body, likely resulting from impaired blood flow to nerves due to Gb-3 buildup. Inflammation and oxidative stress — a type of cellular damage — may also play a role.
In the report, a team of Italian researchers describe the case of man with Fabry and severe neuropathic pain who failed to respond to standard therapies. At 29 years of age, he had symptoms of classic Fabry disease. Since childhood, he had experienced burning pain in his hands and feet that worsened with physical exercise and/or fever. Abdominal pain and diarrhea, as well as heat intolerance and a lack of sweating ability, were also present.
Physical examination confirmed angiokeratomas, which are hard bumps on the skin caused by the widening of blood vessels close to the skin’s surface, located around the belly button and scrotum. These symptoms were strong indicators of Fabry.
Although more evidence is needed, this case report suggests that the use of medical cannabis could be considered as a pain treatment option.
Patient carried mutation in GLA gene
Lab tests confirmed the patient had a mutation in the GLA gene and a lack of alpha-galactosidase A. The same mutation was found in his mother and older brother, with both of them sharing several of his symptoms. Further examination revealed other symptoms consistent with Fabry disease, such as kidney impairment.
A skin biopsy showed signs of damage to the peripheral nerves, such as those in the feet or hands.
The patient began treatment with Fabrazyme, an ERT, together with olmesartan, a medication for high blood pressure.
After treatment for one year, while some symptoms were eased, the patient still experienced severe burning pain in his extremities, which took a toll on his sleep and quality of life.
Over the next three years, several medications were prescribed by a neurologist, but none eased the patient’s pain. Among these were anti-epileptic and anti-convulsant medications.
The man also took paracetamol, an over-the-counter painkiller used in emergency situations for acute pain attacks.
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Patient reports pain relief after 1 month on oral medical cannabis
By 32, the patient was referred to a pain management specialist. He was prescribed oral medical cannabis (cannabidiol 12% and tetrahydrocannabinol 8%), two of the most abundant cannabinoids found in the cannabis plant. The dose began at 100 mg per day, and increased to 500 mg per day.
One month after treatment, the patient reported easing of pain, without significant side effects, as assessed by the Brief Pain Inventory questionnaire. This relief, particularly of nocturnal pain, was maintained for one year after treatment.
Overall, “although more evidence is needed, this case report suggests that the use of medical cannabis could be considered as a pain treatment option for patient with FD [Fabry disease], in particular for nocturnal pain relief, when other pharmacological approaches have failed,” the report concluded.
H/T: fabrydiseasenews.com
