Inflammatory rheumatic diseases in patients with ochronotic arthropathy

Yuce Inel T., Kisa P. T., BALCI A., USLU S., Arslan Z., ÖZTÜRK HİŞMİ B., ...Daha Fazla

Modern Rheumatology, cilt.31, sa.5, ss.1031-1037, 2021 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 5
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1080/14397595.2020.1868121
  • Dergi Adı: Modern Rheumatology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1031-1037
  • Anahtar Kelimeler: alkaptonuria, Ankylosing spondylitis, inflammation, ochronosis, rheumatoid arthritis, tumor necrosis factor-alpha
  • Manisa Celal Bayar Üniversitesi Adresli: Evet

Özet

Background: Ochronotic arthropathy (OcA) refers to excessive homogentisic acid (HGA) deposition in the musculoskeletal system. Our current understanding of OcA is limited, as there are less than a thousand alkaptonuria (AKU) cases reported in the literature. Herein, we investigated the rheumatological manifestations of OcA in a group of adult AKU patients. Methods: Adult AKU patients with symptoms suggestive of OcA were included. Patients underwent a detailed rheumatological assessment. Laboratory testing, including autoantibodies and radiological investigations such as conventional X-rays, and magnetic resonance imaging (MRI) were performed. Results: Eight out of 12 (66%) patients had symptoms consistent with OcA. The median age at OcA symptoms was 36 (27–48) years, and the presenting symptom was back pain in 87.5% of the patients. All patients had chronic back pain, and three (37.5%) had an inflammatory type of pain character. Radiographic sacroiliitis based on X-rays was present in 2 (25%) cases. MRI of the sacroiliac joints documented bone marrow edema in five (62.5%), and spinal MRI identified corner inflammatory lesions in three patients (37.5%). One patient (12.5%) had rheumatoid arthritis. Extra-articular involvement, including enthesitis (n = 1; 12.5%), interstitial lung disease (n = 1; 12.5%), and scleritis (n = 1; 12.5%), was also noted. Conclusion: The frequent occurrence of OcA-related inflammatory manifestations in our patients contradicts the conventional concept of OcA as a non-inflammatory disorder. The activation of inflammatory pathways, possibly by the HGA products, may responsible for this condition.Significance and innovations About three-fourths of adult ochronotic arthropathy (OcA) patients in our group had associated inflammatory disease. OcA associated inflammatory diseases were showing a severe phenotype Nearly half of the OcA patients required early prosthesis operations compared to their healthy counterparts.