Guideline of transthyretin-related hereditary amyloidosis for clinicians

被引：541

作者：

Ando, Yukio ^{[1
,13
]}

Coelho, Teresa ^{[2
]}

Berk, John L. ^{[3
]}

Cruz, Marcia Waddington ^{[4
]}

Ericzon, Bo-Goran ^{[5
]}

Ikeda, Shu-ichi ^{[6
]}

Lewis, W. David ^{[7
]}

Obici, Laura ^{[8
]}

Plante-Bordeneuve, Violaine ^{[9
]}

Rapezzi, Claudio ^{[10
]}

Said, Gerard ^{[11
]}

Salvi, Fabrizio ^{[12
]}

机构：

[1] Kumamoto Univ, Grad Sch Med Sci, Dept Neurol, Chuo Ku, Kumamoto 8608556, Japan

[2] Hosp Santo Antonio, Dept Neurol, Oporto, Portugal

[3] Boston Univ, Dept Med, Amyloid Treatment & Res Program, Boston, MA 02215 USA

[4] Univ Fed Rio de Janeiro, Hosp Univ Clementino Fraga Filho, Dept Neurol, Rio De Janeiro, Brazil

[5] Karolinska Univ Hosp, Div Transplantat Surg, Stockholm, Sweden

[6] Shinshu Univ, Dept Med, Matsumoto, Nagano 390, Japan

[7] Lahey Clin Med Ctr, Dept Transplantat, Burlington, MA 01803 USA

[8] Fdn IRCCS Policlin San Matteo, Amyloidosis Res & Treatment Ctr, Pavia, Italy

[9] CHU Henri Mondor, Dept Neurol, F-94010 Creteil, France

[10] Univ Bologna, Inst Cardiol, Bologna, Italy

[11] Hop La Pitie Salpetriere, Dept Neurol, Paris, France

[12] Ist Sci Neurol Bologna, Dept Neurol, Bologna, Italy

[13] Kumamoto Univ, Grad Sch Med Sci, Dept Neurol, Kumamoto 8600811, Japan

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2013年 / 8卷

关键词：

Amyloidosis; Polyneuropathy; Cardiomyopathy; Oculoleptomeningeal; Transthyretin; Liver transplant; Genetics; POLYNEUROPATHY TYPE-I; MYOCARDIAL SYMPATHETIC INNERVATION; LATE-ONSET; CARDIAC AMYLOIDOSIS; SYSTEMIC AMYLOIDOSIS; TC-99M-APROTININ SCINTIGRAPHY; GEOGRAPHICAL-DISTRIBUTION; LIVER-TRANSPLANTATION; ALLELE FREQUENCY; P COMPONENT;

D O I：

10.1186/1750-1172-8-31

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given its phenotypic unpredictability and variability, transthyretin amyloidosis can be difficult to recognize and manage. Misdiagnosis is common, and patients may wait several years before accurate diagnosis, risking additional significant irreversible deterioration. This article aims to help physicians better understand transthyretin amyloidosis-and, specifically, familial amyloidotic polyneuropathy-so they can recognize and manage the disease more easily and discuss it with their patients. We provide guidance on making a definitive diagnosis, explain methods for disease staging and evaluation of disease progression, and discuss symptom mitigation and treatment strategies, including liver transplant and several pharmacotherapies that have shown promise in clinical trials.

引用

页数：18

共 91 条

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Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy [J].