Chronic Joint Pain in a Young Adult With Cystic Fibrosis

Abstract

A 25-year-old male with end-stage cystic fibrosis (CF) with genotype F508del/F508del presented to the clinic complaining of bilateral knee and ankle pain. He had severe lung disease (forced expiratory volume 1 {FEV1} 19% of predicted), chronic colonization with achromobacter, malnutrition, and CF-related diabetes. On physical examination, he was found to have bilateral knee swelling as well as pain on flexion and extension of the wrists and ankles without erythema or warmth. He was empirically started on prednisone and tramadol; however, at a three-month follow-up visit, he remained symptomatic. He was sent for a wholebody bone scan, which was consistent with hypertrophic pulmonary osteoarthropathy (HPOA). He was started on highly effective modulator therapy with elexacaftor/tezacaftor/ivacaftor and symptoms spontaneously resolved without further intervention.

Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor—Ivacaftor

“…Post approval, however, adverse events related to the nervous system have been reported. Patients complained about testicular or joint pain ( Rotolo et al, 2020 ; Prajapati et al, 2021 ) or–more seriously–about substantial mental status changes ( Zhang et al, 2022a ; Heo et al, 2022 ; Spoletini et al, 2022 ; Arslan et al, 2023 ). Symptoms emerged within the first 3 months after initiating ELX/TEZ/IVA therapy ( Heo et al, 2022 ).…”

Musculoskeletal Abnormalities Caused by Cystic Fibrosis

“…HOA is characterized by a combination of medical conditions including periostitis of long bones, digital clubbing, and severe joint arthropathy with or without synovial effusions. Radiographs can help differentiate HOA from CFA due to characteristic periosteal elevation on the distal aspect of the tubular bones [81]. HPOA is also more commonly seen after initiation of a pulmonary exacerbation [82].…”

New Advances on Pathophysiology of Diabetes Neuropathy and Pain Management: Potential Role of Melatonin and DPP-4 Inhibitors

“…The signs and symptoms of DNP show sensory loss with less sensitivity to touch, hot and cold temperatures, needle prick, and pain hypersensitivity with hyperalgesia or allodynia ( Tavakoli, Mojaddidi, Fadavi, & Malik, 2008 ). The circulation of symptoms and signs varies on the nerves affected in DNP, in which most common forms are distal symmetric polyneuropathy and pain, and sensory findings are observed in the feet, toe, and occasionally also in the finger of hands ( Ambrose & Golightly, 2015 ; Prajapati, Filippi, & Sears, 2021 ). Pain has diverse features such as burning, stinging, and shooting.…”