Article Text
Abstract
Background Alkaptonuria (AKU) is a metabolic disorder that causes accumulation of oxidized homogentisic acid (HGA) in the connective tissues. The excessive deposition of HGA and its metabolites can cause joint destruction and skeletal abnormalities which the entity is clinically referred as ochronotic arthropathy (OA) [1].
Objectives To assess clinical, demographic features and radiographic findings in patients with OA.
Methods Adult AKU patients registered in the database were included in the study. All patients investigated for the presence of OA and inflammatory symptoms. Patients with musculoskeletal symptoms (MSK) underwent conventional X-rays and routine laboratory evaluation. In cases suggestive of inflammatory disease additional work-up such as autoantibodies, HLA-B27 and MRI with inflammatory protocol were performed.
Results Six out of 15 patients had symptoms compatible with OA (40%; 4 male [M], 2 female [F], median age 56 [51-62] years). The median duration of MSK symptoms were 7 (2-19) years. None of the patients had family history of rheumatologic disease. Baseline CRP were normal in all patients. The HLA-B27 test was negative in all cases. One patient had high titers of rheumatoid factor along with positive anti-CCP that were accompanying erosive arthritis on MCP joints by X-rays. Two patient had positive ANA. All patients had chronic back pain and had changes compatible with OA in their spines (narrowing of the intervertebral spaces, vacuum phenomenon and intervertebral disc calcification). Two patient had inflammatory type of pain character (IBP). Radiographic sacroiliitis according to modified New York criteria was present in 2 cases. Inflammatory spine and SIJ lesions were detected by MRI in 1 patient. Extra-articular involvement including enthesitis (1 patient), interstitial lung disease (1 patient) and scleritis (1 patient) was also noted. The clinical and demographic characteristics of the OA are given in Table 1.
Conclusion There was a high prevalence of inflammatory arthritis (2 axSpA; 1 RA) in OA (50%) which contradicts with the common concept that OA is a degenerative disorder. According to our results, inflammatory disease should be carefully screened in OA patients as accumulated metabolic products may trigger inflammatory pathways.
References [1] Phornphutkul, C., et al., Natural history of alkaptonuria. New England journal of medicine, 2002. 347(26): p.2111-2121.
Disclosure of Interests None declared