RESUMEN
OBJECTIVES: Arterial calcification due to deficiency of CD73 (ACDC) is a hereditary autosomal recessive ectopic mineralization syndrome caused by loss-of-function mutations in the ecto-5'-nucleotidase gene. Periarticular calcification has been reported but the clinical characterization of arthritis as well as the microstructure and chemical composition of periarticular calcifications and SF crystals has not been systematically investigated. METHODS: Eight ACDC patients underwent extensive rheumatological and radiological evaluation over a period of 11 years. Periarticular and synovial biopsies were obtained from four patients. Characterization of crystal composition was evaluated by compensated polarized light microscopy, Alizarin Red staining for synovial fluid along with X-ray diffraction and X-ray micro tomosynthesis scanner for periarticular calcification. RESULTS: Arthritis in ACDC patients has a clinical presentation of mixed erosive-degenerative joint changes with a median onset of articular symptoms at 17 years of age and progresses over time to the development of fixed deformities and functional limitations of small peripheral joints with, eventually, larger joint and distinct axial involvement later in life. We have identified calcium pyrophosphate and calcium hydroxyapatite (CHA) crystals in SF specimens and determined that CHA crystals are the principal component of periarticular calcifications. CONCLUSION: This is the largest study in ACDC patients to describe erosive peripheral arthropathy and axial enthesopathic calcifications over a period of 11 years and the first to identify the composition of periarticular calcifications and SF crystals. ACDC should be considered among the genetic causes of early-onset OA, as musculoskeletal disease signs may often precede vascular symptoms.
Asunto(s)
5'-Nucleotidasa/deficiencia , Calcinosis/diagnóstico por imagen , Artropatías/diagnóstico por imagen , Periartritis/diagnóstico por imagen , Enfermedades Vasculares/diagnóstico por imagen , 5'-Nucleotidasa/genética , Calcinosis/genética , Calcinosis/patología , Preescolar , Femenino , Proteínas Ligadas a GPI/genética , Humanos , Artropatías/genética , Artropatías/patología , Masculino , Persona de Mediana Edad , Periartritis/genética , Periartritis/patología , Radiografía , Enfermedades Vasculares/genética , Enfermedades Vasculares/patologíaRESUMEN
We describe a mother and 2 daughters with familial recurrent calcific periarthritis in a family with an inherited tendency to develop generalized osteoarthritis (OA). Low levels of serum alkaline phosphatase were found in 1 of the daughters while the mother developed erosive OA in later life. HLA typing was noncontributory. However, the 3 individuals with periarthritis possessed blood group A+, while the 6 unaffected family members were O+. The experience of this family adds weight to the case that recurrent calcific periarthritis may be due to an inherited abnormality of alkaline phosphatase production and suggest that this may also be responsible for the recently observed association of calcific periarthritis and erosive OA.
Asunto(s)
Hipofosfatasia/genética , Osteoartritis/genética , Periartritis/genética , Adulto , Fosfatasa Alcalina/metabolismo , Salud de la Familia , Femenino , Humanos , Hipofosfatasia/sangre , Hipofosfatasia/enzimología , Incidencia , Masculino , Osteoartritis/sangre , Osteoartritis/enzimología , Linaje , Periartritis/sangre , Periartritis/enzimologíaRESUMEN
Three siblings, 2 women and one man, from an Iranian-Jewish family with low serum levels of alkaline phosphatase (liver fraction) and symptomatic calcific periarthritis of multiple joints are described. Both parents and 2 additional siblings had normal serum alkaline phosphatase levels and no joint symptoms. The disease in the proposita, a 49-year-old woman, showed 3 unusual features: (1) no rise in acute phase serum proteins despite severe attacks of periarthritis; (2) refractoriness to treatment; (3) pure octacalcium phosphate found in a deposit obtained by biopsy.
Asunto(s)
Fosfatasa Alcalina/sangre , Fosfatos de Calcio/metabolismo , Periartritis/metabolismo , Adulto , Artrografía , Cristalización , Femenino , Mano/diagnóstico por imagen , Humanos , Irán/etnología , Israel , Judíos , Masculino , Persona de Mediana Edad , Linaje , Periartritis/enzimología , Periartritis/genéticaRESUMEN
A family is described in which four members in three generations showed evidence of crystal deposition disease: two developed calcium pyrophosphate dihydrate (CPPD) crystal deposition, one calcific periarthritis, and one mixed crystal deposition disease (gout + chondrocalcinosis). This previously undescribed observation supports a possible role for nonspecific heritable connective tissue factors in predisposing to crystal deposition.
Asunto(s)
Artropatías/genética , Adulto , Anciano , Pirofosfato de Calcio , Condrocalcinosis/genética , Cristalización , Femenino , Gota/genética , Humanos , Masculino , Persona de Mediana Edad , Linaje , Periartritis/genética , Ácido ÚricoRESUMEN
A family of 4 is described in which both children had calcific periarthritis affecting the shoulders, and the mother had radiological evidence of periarticular calcification near the left greater trochanter.