ATTRv amyloidosis Italian Registry: clinical and epidemiological data

Russo, Massimo; Obici, Laura; Bartolomei, Ilaria; Cappelli, Francesco; Luigetti, Marco; Fenu, Silvia; Cavallaro, Tiziana; Chiappini, Maria Grazia; Gemelli, Chiara; Pradotto, Luca; Manganelli, Fiore; Leonardi, Luca; My, Filomena; Sampaolo, Simone; Briani, Chiara; Gentile, Luca; Stancanelli, Claudia; Buduo, Eleonora Di; Pacciolla, Paolo; Salvi, Fabrizio; Casagrande, Silvia; Bisogni, Giulia; Calabrese, Daniela; Vanoli, Fiammetta; Iorio, Giuseppe Di; Antonini, Giovanni; Santoro, Lucio; Mauro, Alessandro; Grandis, Marina; Girolamo, Marco Di; Fabrizi, Gian Maria; Pareyson, Davide; Sabatelli, Mario; Perfetto, Federico; Rapezzi, Claudio; Merlini, Giampaolo; Mazzeo, Anna; Vita, Giuseppe

doi:10.1080/13506129.2020.1794807

Cited by 56 publications

(49 citation statements)

References 38 publications

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“…Regarding observed mutations, we confirmed that Val30Met was not the most common variant in Italy, with Phe64Leu being the most frequently found one in this cohort [5,6]. Although our data were focused on hATTR nerve biopsies, results were similar to those of the ATTRv amyloidosis Italian Registry [6], with the absence of Ile68Leu that classically shows a cardiological phenotype without nerve involvement.…”

Section: Discussionsupporting

confidence: 82%

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hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

et al. 2020

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Pathological evidence of amyloid on nerve biopsy has been the gold standard for diagnosis in hereditary transthyretin amyloidosis polyneuropathy (hATTR-PN) for a long time. In this article, we reviewed the pathological findings of a large series of sural nerve biopsies from a cohort of hATTR-PN patients, collected by different Italian referral centers. Patients and Methods: We reviewed clinical and pathological data from hATTR-PN patients, diagnosed and followed in five Italian referral centers for peripheral neuropathies. Diagnosis was formulated after a positive genetic test for transthyretin (TTR) mutations. Sural nerve biopsy was performed according to standard protocols. Results: Sixty-nine sural nerve biopsies from hATTR-PN patients were examined. Congo red positive deposits were found in 73% of cases. Only the Phe64Leu mutation failed to show amyloid deposits in a high percentage of biopsies (54%), as already described. Unusual pathological findings, such as myelin abnormalities or inflammatory infiltrates, were detected in occasional cases. Conclusions: Even if no longer indicated to confirm hATTR-PN clinical suspicion, nerve biopsy remains, in expert hands, a rapid and inexpensive tool to detect amyloid deposition. In Italy, clinicians should be aware that a negative biopsy does not exclude hATTR-PN, particularly for Phe64Leu, one of the most frequent mutations in this country.

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Section: Discussionsupporting

confidence: 82%

“…Val30Met is the most frequent pathogenic variant and is primarily associated with neuropathy [3]. Phe64Leu is the most common mutation in southern Italy [4][5][6].…”

Section: Introductionmentioning

confidence: 99%

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

et al. 2020

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“…In the period from 2016-2019, within the framework of the Telethon National Program for clinical research, a study on ATTRv was carried out in Italy. The study aimed to create a national registry collecting clinical, treatment-related, and genetic information of the disease [ 22 , 23 ]. Moreover, the study investigated the burden of care and the professionals and social support in a large sample of symptomatic patients and their key-relatives, using validated, self-reported questionnaires.…”

Section: Introductionmentioning

confidence: 99%

Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy

Magliano

Obici

Sforzini

et al. 2021

Orphanet J Rare Dis

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Background Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decline of patient’s functional autonomy negatively affects the patient’s quality of life and requires increasing involvement of relatives in the patient’s daily life. Family caregiving may become particularly demanding when the patient is no longer able to move independently. This study is focused on the psychosocial aspects of ATTRv from the patient and relative perspectives. In particular, it explored: the practical and psychological burdens experienced by symptomatic patients with ATTRv and their key relatives and the professional and social network support they may rely on; whether burden varied in relation to patients’ and relatives’ socio-demographic variables, patients’ clinical variables, and perceived professional and social network support; and, any difference in burden and support between patients and their matched relatives. Methods The study was carried out on symptomatic patients included in the ATTRv Italian national registry and living with at least one adult relative not suffering from severe illness and being free from ATTRv symptoms. Patients and relatives’ assessments were performed using validated self-reported tools. Results Overall, 141 patients and 69 relatives were evaluated. Constraints of leisure activities, feelings of loss and worries for the future were the consequences of ATTRv most frequently reported by patients and relatives. Both in patients and their relatives, the burden increased with the duration of symptoms and the level of help in daily activities needed by the patient. In the 69 matched patient-relative pairs, the practical burden was significantly higher among the patients than among their relatives, while the psychological burden was similar in the two groups. Moreover, compared to their relatives, patients with ATTRv reported higher levels of professional and social network support. Conclusions These results show that ATTRv is a disease affecting quality of life of both patients and their families. Supporting interventions should be guaranteed to patients, to facilitate their adaptation to the disease, and to their families, to cope as best as possible with the difficulties that this pathology may involve.

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“…E89Q, F64L) are also frequent, sharing similarities with the late-onset V30M type, including onset age. T49A and E89Q show fast progression; F64L is relatively less rapid; I68L is predominantly cardiopathic [9,15].…”

Section: Gian Maria Fabrizi Marco Luigetti Paola Mandich Anna Mazzmentioning

confidence: 98%

“…Clinical heterogeneity is only partly explained by genetic mutation differences. The most frequent mutation worldwide, V30M, has either early-onset (in the endemic areas in Portugal and Brazil, mean onset age 33 years; occasionally in other areas including Italy) or late-onset (in Sweden-mean onset age 60 years-in many Japanese cases and in non-endemic countries like Italy), for still unknown reasons [8][9][10].…”

Section: Gian Maria Fabrizi Marco Luigetti Paola Mandich Anna Mazzmentioning

confidence: 99%

Hereditary transthyretin amyloidosis overview

et al. 2020

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Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in the transthyretin (TTR) gene. The pathogenetic model of ATTRv amyloidosis indicates that amyloidogenic, usually missense, mutations destabilize the native TTR favouring the dissociation of the tetramer into partially unfolded species that self-assemble into amyloid fibrils. Amyloid deposits and monomer-oligomer toxicity are the basis of multisystemic ATTRv clinical involvement. Peripheral nervous system (autonomic and somatic) and heart are the most affected sites. In the last decades, a better knowledge of pathomechanisms underlying the disease led to develop novel and promising drugs that are rapidly changing the natural history of ATTRv amyloidosis. Thus, clinicians face the challenge of timely diagnosis for addressing patients to appropriate treatment. As well, the progressive nature of ATTRv raises the issue of presymptomatic testing and risk management of carriers. The main aim of this review was to focus on what we know about ATTRv so far, from pathogenesis to clinical manifestations, diagnosis and hence patient’s monitoring and treatment, and from presymptomatic testing to management of carriers.

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ATTRv amyloidosis Italian Registry: clinical and epidemiological data

Cited by 56 publications

References 38 publications

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy

Hereditary transthyretin amyloidosis overview

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