Paget�s disease population analysis within Rheumatology Outpatient of the ASL of Biella (Piedmont Region, Italy)

Abstract

SummaryThe Ambulatory of Biella is the only service of Rheumatology of the Biella area. The Paget's disease is the 0.5% and appears to be representative of the territory of Biella. We evaluated the pagetics locations, disease activity and quality of life, the presence of gene mutation and frequency of comorbidities and therapeutic efficacy. Patients with active disease were treated with intravenous bisphosphonate therapy and investigated in relation to the side effects: flu-like syndrome and therapeutic efficacy by ALP and scintigraphy. 15 out of 20 patients analyzed resulted in the active disease with pain in the upper-middle pagetic location. Treatment with bisphosphonates has led to remission of disease: normalization of ALP values in 90%, documented by the scintigraphy of control. In the 86% of cases it was not necessary to make a second infusion, even 3 years after the first administration. In only two cases was carried out another infusion for the persistence of pain, despite levels of ALP prove the rule, in such cases, the scintigraphy can showed uptake of the sites involved. Bone scintigraphy is more sensitive and specific of ALP in determining disease activity and should be used in cases of doubt of retreatment. 53% of cases showed as side effect a flu-like syndrome; 6 months after infusion secondary hyperparathyroidism in 46% of cases. SQSTM1 mutation was positive in two patients originating from Veneto and Sardinia, but in no patients in Biella. The presence of two aggregations family suggesting other mutations in the Biella population.