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Amyloidosis AND (Hattr OR Hereditary OR Familial)

Yuya Hayashi, Hirofumi Jono
Transthyretin (TTR) amyloidosis, also known as transthyretin-related familial amyloidotic polyneuropathy (ATTR-FAP), is a fatal hereditary systemic amyloidosis caused by mutant forms of TTR. Although conventional treatments for ATTR-FAP, such as liver transplantation (LT) and TTR tetramer stabilizer, reportedly halt the progression of clinical manifestation, these therapies have several limitations. Oligonucleotide-based therapy, e.g. small interfering RNA (siRNA)- and antisense oligonucleotides (ASOs)-based therapy, hold enormous potential for the treatment of intractable diseases such as ATTR-FAP, by specifically regulating the gene responsible for the disease...
2018: Biological & Pharmaceutical Bulletin
Birgit Maria Köhler, Hanns-Martin Lorenz, Norbert Blank
OBJECTIVE: Approximately 10%-20% of patients with familial Mediterranean fever (FMF) show an inadequate response to colchicine. In our cohort study, patients with FMF with or without amyloidosis and with an inadequate response to colchicine were treated with anakinra or canakinumab. METHODS: Clinical and laboratory parameters, Mediterranean fever (MEFV) mutations, and patient-reported outcomes were analyzed in 31 patients treated with anakinra or canakinumab. RESULTS: In a cohort of 250 adult patients with FMF, 31 patients were treated with anakinra (n=29) or canakinumab (n=2)...
December 2018: European Journal of Rheumatology
Şule Yaşar Bilge, Dilek Solmaz, Soner Şenel, Hakan Emmungil, Levent Kılıç, Sibel Yılmaz Öner, Fatih Yıldız, Sedat Yılmaz, Duygu Ersözlü Bozkırlı, Müge Aydın Tufan, Sema Yılmaz, Veli Yazısız, Yavuz Pehlivan, Cemal Beş, Gözde Yıldırım Çetin, Şükran Erten, Emel Gönüllü, Fezan Şahin, Servet Akar, Kenan Aksu, Umut Kalyoncu, Haner Direskeneli, Eren Erken, Bünyamın Kısacık, Mehmet Sayarlıoğlu, Muhammed Çınar, Timuçin Kaşifoğlu, İsmail Sarı
OBJECTIVE: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. METHODS: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics...
October 12, 2018: European Journal of Rheumatology
Violaine Planté-Bordeneuve, Hollis Lin, Jared Gollob, Sonalee Agarwal, Marissa Betts, Kyle Fahrbach, Madhura Chitnis, Michael Polydefkis
BACKGROUND: Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a progressive, life-threatening disease. Until recently, tafamidis was the only approved pharmacotherapy. Patisiran significantly improved polyneuropathy and Quality of life (QoL) in the phase III APOLLO study. In the absence of direct comparisons, this analysis aims to evaluate the comparative efficacy of tafamidis and patisiran in hATTR amyloidosis with polyneuropathy. RESEARCH DESIGN AND METHODS: Randomized controlled trial evidence for tafamidis was identified by systematic literature review...
November 29, 2018: Expert Opinion on Pharmacotherapy
Mitsuharu Ueda, Taro Yamashita, Yohei Misumi, Teruaki Masuda, Yukio Ando
Hereditary transthyretin (ATTRm) amyloidosis, formerly known as familial amyloid polyneuropathy, is a major type of hereditary systemic amyloidosis, in which the disease is caused by mutant transthyretin (TTR). Although more than 140 different point mutations have been identified in the TTR gene, ATTRm amyloidosis patients with the TTR Val30Met mutation are most frequently found worldwide. Interestingly, the onset age of the ATTR Val30Met amyloidosis is highly varied among countries and regions. The reason for these differences in onset age and penetrance remains to be elucidated...
September 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
Arnt V Kristen, Senda Ajroud-Driss, Isabel Conceição, Peter Gorevic, Theodoros Kyriakides, Laura Obici
Hereditary transthyretin-mediated amyloidosis is a rapidly progressive, heterogeneous disease caused by the accumulation of misfolded transthyretin protein as amyloid fibrils at multiple sites, and is characterized by peripheral sensorimotor neuropathy, autonomic neuropathy and/or cardiomyopathy. Current treatment options have limited efficacy and often do not prevent disease progression. Patisiran is a novel RNA interference therapeutic that specifically reduces production of both wild-type and mutant transthyretin protein...
November 27, 2018: Neurodegenerative Disease Management
Alessandro Stella, Fabiana Cortellessa, Giuseppe Scaccianoce, Barbara Pivetta, Enrica Settimo, Piero Portincasa
Objective: FMF is an inherited autoinflammatory syndrome, characterized by attacks of painful periodic fever caused by diffuse serositis and risk of secondary amyloidosis due to IL-1β-mediated inflammation. The disease appears to be transmitted through autosomal recessive mutations in the MEFV gene encoding the pyrin protein Although more than 300 variants have been reported worldwide so far, their association with symptom severity, the relative frequencies in different populations and the disease penetrance are far from being completely understood...
November 23, 2018: Rheumatology
Kuan Fan, Haixia Zhu, Hongbo Xu, Ping Mao, Lamei Yuan, Hao Deng
Familial amyloid polyneuropathies (FAPs) are life-threatening, autosomal dominant diseases resulting, in most instances, from transthyretin gene (TTR) variants. A small number of TTR variants lead to leptomeningeal amyloidosis (LA), which is a rare FAP subtype with late-onset central nervous system (CNS) impairment symptoms. Previous studies suggest that LA's CNS selectivity was due to complete endoplasmic reticulum-associated degradation of highly destabilized mutants in peripheral tissues. LA's later age at onset (AAO) was due to lower choroid plexus secretory efficacy...
November 23, 2018: Journal of Neurology
Mark B Pepys
The phylogenetically ancient, pentraxin family of plasma proteins, comprises C-reactive protein (CRP) and serum amyloid P component (SAP) in humans and the homologous proteins in other species. They are composed of five, identical, non-covalently associated protomers arranged with cyclic pentameric symmetry in a disc-like configuration. Each protomer has a calcium dependent site that mediates the particular specific ligand binding responsible for all the rigorously established functional properties of these proteins...
2018: Frontiers in Immunology
Aldostefano Porcari, Giulia De Angelis, Simona Romani, Alessia Paldino, Jessica Artico, Antonio Cannatà, Piero Gentile, Bruno Pinamonti, Marco Merlo, Gianfranco Sinagra
Dilated cardiomyopathy (DCM) is generally thought as a final common pathway of several conditions leading to the same clinical phenotype. Multiple imaging modalities play a fundamental role in recognizing the underlying pathological substrate in DCM. Areas covered: Echocardiography represents the first reliable and easily accessible diagnostic tool, allowing the identification of associated cardiac abnormalities, such as valve disease and highlighting features associated with an adverse prognosis. Recent advances in technology such as strain analysis and 3D-echocardiography have improved the diagnostic and prognostic capabilities of this technique...
November 20, 2018: Expert Review of Cardiovascular Therapy
Šárka Fingerhutová, Eva Jančová, Markéta Tesařová, Lenka Dvořáková, Pavla Doležalová
Autoinflammatory diseases represent a relatively new and rapidly evolving group of rare disorders associated with mutations of genes encoding proteins with a key regulatory role in inflammatory response. Gradual discovery of mechanisms that link genetic disorder with its biochemical and immunological consequences leading to continuous or episodic inflammatory stimulation has enabled introduction of directed immunotherapies. Periodic fever syndromes belong to the so far best-known entities: familial Mediterranean fever, mevalonate kinase deficiency, cryopyrinopathies and TNF-receptor associated periodic syndrome...
2018: Casopís Lékar̆ů C̆eských
Abdulsamet Erden, Ezgi Deniz Batu, Alper Sarı, Hafize Emine Sönmez, Berkan Armagan, Selcan Demir, Esra Fırat, Yelda Bilginer, Sule Apras Bilgen, Ömer Karadağ, Umut Kalyoncu, Sedat Kiraz, Ihsan Ertenli, Seza Özen, Ali Akdogan
OBJECTIVES: Colchicine is the main therapy for familial Mediterranean fever (FMF); however, 5-10% of patients are colchicine-resistant. There is no standard and validated definition for colchicine resistance. We aimed to compare the existing definitions for colchicine resistance in both adult and paediatric FMF patients to find out the best definition to determine colchicine-resistant patients. METHODS: 385 FMF patients were evaluated and patients receiving anti-interleukin-1 treatment were included...
November 12, 2018: Clinical and Experimental Rheumatology
Xuemin Feng, Hui Zhu, Teng Zhao, Yanbo Hou, Jingyao Liu
OBJECTIVES: In this study, we report a case of Finnish gelsolin amyloidosis (FGA) in a Chinese family. METHODS: The proband presented with a range of clinical symptoms that included epileptic seizures and multiple lesions in the brain. Whole exome sequencing of the Gelsolin (GSN) gene was performed, and the GSN mutation was identified through comparison with the known human genome sequences using Genetic Testing Intelligent Execution System. RESULTS: The GSN gene sequencing revealed that a heterozygous G duplicate in exon1 (c...
November 12, 2018: Brain and Behavior
Donato Rigante
Systemic autoinflammatory disorders (SAIDs) are inherited defects of innate immunity characterized by recurrent sterile inflammatory attacks involving skin, joints, serosal membranes, gastrointestinal tube, and other tissues, which recur with variable rhythmicity and display reactive amyloidosis as a potential long-term complication. Dysregulated inflammasome activity leading to overproduction of many proinflammatory cytokines, such as interleukin-1 (IL-1), and delayed shutdown of inflammation are considered crucial pathogenic keys in the vast majority of SAIDs...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Teruaki Masuda, Mitsuharu Ueda, Mika Kitajima, Kosuke Morita, Yohei Misumi, Taro Yamashita, Konen Obayashi, Yasuyuki Yamashita, Yukio Ando
No abstract text is available yet for this article.
November 6, 2018: Neurology
A Gracia Gutiérrez, E Bueno Juana, C Lahuerta Pueyo, S Menao Guillén, J Escota Villanueva, M Á Aibar Arregui
BACKGROUND AND OBJECTIVE: There are 2 types of amyloidosis caused by transthyretin deposits: the wild type (wt-ATTR) and the mutant type (m-ATTR), transmitted by autosomal dominant inheritance with variable penetrance, manifesting with neurological and/or cardiac symptoms. We report on 3 families affected by m-ATTR diagnosed in a nonendemic area. MATERIAL AND METHODS: We studied 63 patients with a high suspicion of ATTR. The diagnosis was subsequently performed by magnification through polymerase chain reaction of DNA...
October 31, 2018: Revista Clínica Española
Asad Ikram, Joseph P Donnelly, Brett W Sperry, Christy Samaras, Jason Valent, Mazen Hanna
OBJECTIVE: Transthyretin (ATTR) amyloidosis is an under-recognized, progressive disease manifesting as cardiomyopathy and/or polyneuropathy. Diflunisal, a nonsteroidal anti-inflammatory drug (NSAID), has demonstrated transthyretin stabilization in vitro and slowing of polyneuropathy progression in the hereditary ATTR subtype (ATTRm). However, the use of diflunisal has only been described in a small cohort of patients with ATTR cardiac amyloidosis (CA). We hypothesized that selected patients with ATTR-CA, both hereditary and wild-type (ATTRwt), would tolerate diflunisal with limited adverse events...
November 2, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
Daphne L Jonker, Bouke P C Hazenberg, Hans L A Nienhuis, Riemer H J A Slart, Andor W J M Glaudemans, Walter Noordzij
BACKGROUND: Nuclear imaging modalities using 123 Iodine-metaiodobenzylguanidine (123 I-MIBG) and bone seeking tracers identify early cardiac involvement in ATTRm amyloidosis patients. However, little is known whether results from 123 I-MIBG scintigraphy actually correlate to markers for either cardiac autonomic neuropathy or cardiomyopathy. METHODS: All TTR mutation carriers and ATTRm patients who underwent both 123 I-MIBG and 99m Technetium-hydroxymethylene diphosphonate (99m Tc-HDP) scintigraphy were included...
October 29, 2018: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
Laura Obici
No abstract text is available yet for this article.
September 2018: Arquivos de Neuro-psiquiatria
Marjolein Bulk, Laure Grand Moursel, Linda M van der Graaf, Susanne J van Veluw, Steven M Greenberg, Sjoerd G van Duinen, Mark A van Buchem, Sanneke van Rooden, Louise van der Weerd
Background and Purpose- Previous studies of symptomatic and asymptomatic hereditary cerebral amyloid angiopathy (CAA) patients offered the possibility to study the radiological manifestations of CAA in the early stages of the disease. Recently, a striped cortex, observable as hypointense lines perpendicular to the pial surface on T2 * -weighted 7T magnetic resonance imaging (MRI), was detected in 40% of the symptomatic hereditary CAA patients. However, the origin of these MRI contrast changes is unknown. This study aimed at defining the underlying pathology associated with the in vivo observed striped pattern...
September 2018: Stroke; a Journal of Cerebral Circulation
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