Background & Aims

Small fiber neuropathy (SFN) is a disorder characterized by selective damage to small-diameter nerve fibers, leading to neuropathic pain. While often associated with various etiologies, an unusual presentation of SFN can be linked to autoimmune conditions. We present a case of a 25-year-old female with severe burning pain in both legs, ultimately diagnosed with coeliac disease and SFN. This case study aims to shed light on the clinical manifestation of SFN in a patient with Coeliac disease, emphasizing the importance of considering gluten-related neuropathy in patients presenting with unexplained severe pain.

Methods

The patient reported a two-year history of progressively worsening leg pain, exacerbated over the last two months. Despite self-medicating with NSAIDs, her symptoms persisted. Initial investigations, including EMNG and lumbosacral MRI, showed no abnormalities. Routine blood tests, autoimmune profile, and thyroid function tests yielded normal results. A skin biopsy, however, revealed findings consistent with small fiber neuropathy.

Results

Despite normal findings in EMNG, lumbosacral MRI, and initial blood tests, the skin biopsy revealed small fiber neuropathy, indicating nerve damage. In light of this finding and to explore potential underlying causes, serological tests for Coeliac disease were performed, showing positive results for IgA gliadin, IgG gliadin, and Tissue Transglutaminase. To confirm the Coeliac disease diagnosis, an endoscopic biopsy was conducted, providing definitive confirmation. The patient’s severe pain was attributed to gluten-induced small fiber neuropathy. The patient was discharged with strict adherence to a gluten-free diet and prescribed pregabalin 75mg twice daily for three months. Follow-up after six months revealed the patient was pain-free without the need for medication.

Conclusions

This case highlights the rare association between coeliac disease and small fiber neuropathy, manifesting as severe pain. Recognition of such atypical presentations is crucial for timely diagnosis and effective management. A gluten-free diet, in addition to symptom-targeted medications, can lead to significant improvement in pain and overall quality of life for these patients. Our findings contribute to the understanding of diverse neurological manifestations in coeliac disease, emphasizing the importance of considering this autoimmune condition in patients with unexplained pain symptoms.

References

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Presenting Author

Arianit Zajmi

Poster Authors

Arianit Zajmi

MD, Phd(c), UTA

University Clinical Center of Kosovo, Neurology Clinic;

Lead Author

E-mail

Topics

  • Models: Chronic Pain - Neuropathic