ATTRv amyloidosis Italian Registry: clinical and epidemiological data
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
Authors: Russo, Massimo; Obici, Laura; Bartolomei, Ilaria; Cappelli, Francesco; Luigetti, Marco; Fenu, Silvia; Cavallaro, Tiziana; Chiappini, Maria Grazia; Gemelli, Chiara; Pradotto, Luca Guglielmo; Manganelli, Fiore; Leonardi, Luca; My, Filomena; Sampaolo, Simone; Briani, Chiara; Gentile, Luca; Stancanelli, Claudia; Di Buduo, Eleonora; Pacciolla, Paolo; Salvi, Fabrizio; Casagrande, Silvia; Bisogni, Giulia; Calabrese, Daniela; Vanoli, Fiammetta; Di Iorio, Giuseppe; Antonini, Giovanni; Santoro, Lucio; Mauro, Alessandro; Grandis, Marina; Di Girolamo, Marco; Fabrizi, Gian Maria; Pareyson, Davide; Sabatelli, Mario; Perfetto, Federico; Rapezzi, Claudio; Merlini, Giampaolo; Mazzeo, Anna; Vita, Giuseppe
Abstract
Introduction ATTRv amyloidosis is worldwide spread with endemic foci in Portugal and Sweden, Japan, Brazil, Maiorca, and Cyprus. A national Registry was developed to characterise the epidemiology and genotype-phenotype correlation of ATTRv amyloidosis in Italy and to allow a better planning of diagnostic and therapeutic services. Methods Fifteen Italian referral centres for amyloidosis spread all over the country have contributed to the Registry. Results Four-hundred-forty-seven subjects were enrolled, 187 asymptomatic carriers and 260 affected patients. Thirty-one different mutations were recorded. The seven most represented genetic variants were significantly different in terms of age at onset, clinical features and geographical distribution. National prevalence is 4.33/million with higher values in Southern Italy. Overall symptoms of polyneuropathy were present at disease onset in about half of the patients, symptoms of cardiomyopathy in a quarter of patients, the rest referring carpal tunnel syndrome, dysautonomia or lumbar spinal stenosis. 52.6% of patients were in FAP stage 1, 20.4% in stage 2 and 13.5% in stage 3, while 13.5% patients had no neuropathy, presenting only cardiological symptoms. Conclusions We presented an epidemiological study based on collaboration among referral centres for ATTRv amyloidosis spread in all the Italian territory, using web-based Registry. It provided a detailed map of the regional distribution of the disease. The increased awareness of the disease among general practitioners and medical specialists has contributed to reduce the diagnostic delay and the rate of misdiagnosis. The Registry will allow to collect also future information about clinical and instrumental follow-up.
Understanding the Experience of Functional Abdominal Pain Through Written Narratives by Families
PAIN MEDICINE
Authors: Nieto, Ruben; Sora, Beatriz; Boixados, Merce; Ruiz, Gemma
Abstract
Objective. Although functional abdominal pain (FAP) is one of the most common pain problems in children, there is a lack of qualitative studies on this topic. Our aim was to increase knowledge in this field by testing an innovative written narrative methodology designed to approach the experiences of children with FAP and their parents. Methods. We analyzed the FAP experiences of 39 families who completed a written narrative task (children and parents separately). Some of the families (N = 20) had previously completed an online psychosocial intervention, whereas others had not, because a complementary objective was to explore possible differences between parent and child narratives, and between those who had and had not completed the intervention. Results. Families wrote about abdominal pain (characteristics, triggers, pain consequences, and coping strategies), their well-being, the diagnostic process, future expectations, and the positive effects of an online psychosocial intervention. Children tended to mention pain characteristics more, whereas parents tended to write more about triggers and the diagnostic process. Conclusions. A written narrative methodology was found to be a useful approach for understanding families' experiences. Results confirmed that FAP affects families at the emotional, behavioral, and social levels and that an online psychosocial intervention can help families.