Rheumatoid Arthritis Patient With Neurofibromatosis Type 1: Case Report and Review of the Literature

TL;DR

A rare case of a patient with both neurofibromatosis type 1 and rheumatoid arthritis is reported, highlighting the challenges in diagnosis and treatment.

Contribution

This paper presents a rare case of NF1 combined with RA and reviews existing literature to improve clinical understanding of this uncommon condition.

Findings

NF1 combined with RA mainly affects adult women and typically follows a six-year gap after NF1 symptoms begin.

There are only a few reported cases of NF1 complicated with RA, emphasizing its rarity.

The patient's death from myocardial infarction highlights the importance of managing comorbidities in such cases.

Abstract

A 66-year-old neurofibromatosis type 1 (NF1) patient with polyarticular pain for nine years, aggravated for two days, was transferred from the Emergency Intensive Care Unit (EICU) to our rheumatology department. She was diagnosed with NF1 nine years ago by a gene mutation detection and coronary heart disease (CHD) three months ago. The patient was diagnosed with rheumatoid arthritis (RA) this time. After 24 days of treatment with appropriate medication, the patient was discharged with relieved joint pain. However, about four months later, the patient died of circulatory failure caused by myocardial infarction. We analyzed the possible reasons for her outcome and made a review of the literature. There are few clinical reports of NF1 complicated with RA. We found five cases reported in the literature up to date during our search and included them in our communication to compare with our case. NF1 combined with RA mainly affects adult women and usually starts with NF1 and is followed by RA after at least six years of NF1 symptom onset. Although the summarized characteristics of clinical and potential pathogenesis of NF1 combined with RA were limited with these six cases, we hope that this will help clinicians to increase their understanding of this rare complication, thus helping to guide clinical medication.

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