Panel Offers Recommendations on Pain Management in Fabry Disease

A new report details consensus findings on pain management for patients with Fabry disease. The research was published in Orphanet Journal of Rare Diseases.

A Delphi panel consisting of 10 individuals came to a consensus on 21 of 24 aspects of pain management and assessment for patients. All panelists had expertise managing patients with Fabry disease in the United Kingdom.

The aspects “encompassed steps in the care pathway from the goals of therapy through to holistic support, including the use of gabapentin and carbamazepine as first-line analgesic medications for the treatment of neuropathic pain in Fabry disease, as well as the proactive management of symptoms of anxiety and/or depression associated with Fabry pain,” the researchers wrote.

Currently, no clear consensus exists within clinical practice in the United Kingdom for assessment and management of pain in these patients.

Findings can help prompt next steps for developing clinical guidelines, the researchers said.

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The rare disease is caused by GLA gene mutations and involves the renal, cardiac, and nervous systems. Many patients with the classic phenotype of Fabry disease report pain early on. The symptom can manifest as chronic episodes of burning, stabbing, or shooting pain that range in severity.

However, “the most common pain experienced by people with Fabry disease is acroparaesthesia. This presents as episodes of neuropathic pain, and is reported in up to 80% of classical hemizygous male patients and up to 65% of heterozygous female patients,” the authors explained. The pain’s pathophysiology is poorly understood and its pattern can be unpredictable.

Experts’ consensus on assessment of pain in Fabry disease included recommendations to use the Brief Pain Inventory (BPI) tool to determine pain severity and its impact on functioning. They also agreed on the use of disease-specific pain diaries or apps to assess pain for these patients, as these tools have been successful in other disease settings.

In addition, the panel emphasized the importance of understanding pain triggers for individuals with Fabry disease. This way, individuals can manage their exposure to stressors in the workplace or school.

When it comes to gastrointestinal pain, experts agreed on managing symptoms like nausea or vomiting, “but in both survey rounds there was limited insight into strategies to address abdominal pain,” the researchers wrote.

The panel also endorsed assessment and treatment of anxiety and depression among patients with Fabry disease experiencing pain, and stressed the need for holistic support and clinical intervention for these individuals.

Authors note most rare disease specialists were not included in the panel, and consensus opinions may not be generalized to the wider community. What’s more, the panelists were metabolic disease specialists and not pain specialists, specifically. No individuals with Fabry disease were included in the panel.

“The consensus reported here should catalyze further discussion amongst stakeholders within the Fabry disease health care professional community, centered on developing specific consensus guidance for the management of pain in Fabry disease, particularly neuropathic pain,” the authors said.

By doing so, experts can develop medication choices that are adapted to children and adults with the disease. Going forward, patient-reported outcomes will be instrumental to develop specific guidelines.

“The consensus panel outcomes reported here are not intended to frame clinical rules for managing pain in Fabry disease but have highlighted strengths in current UK clinical practice, along with unmet needs on which to focus ongoing research and discussion,” the authors concluded.

Reference

Stepien KM, Broomfield A, Cole D, et al. Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel. Orphanet J Rare Dis. Published online July 21, 2023. doi:10.1186/s13023-023-02796-1