NDLI: Clinical diversity, diagnosis and treatment of hereditary amyloid neuropathy

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Clinical diversity, diagnosis and treatment of hereditary amyloid neuropathy

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Sekijima, Yoshiki
Description	Author Affiliation: Sekijima Y ( Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine)
Abstract	Hereditary amyloid neuropathy includes hereditary ATTR, hereditary AGel, hereditary AApoAI, and hereditary Aß2M amyloidosis. Among these diseases, hereditary ATTR is the most common type of amyloidosis caused by mutation in the transthyretin (TTR) gene. Hereditary ATTR amyloidosis is a life-threatening, multi-symptom, gain-of-toxic-function disease that may present with peripheral neuropathy, autonomic neuropathy, cardiomyopathy, ophthalmopathy, and/or leptomeningeal amyloidosis. In addition to the clinical symptoms described above, proven amyloid deposition in biopsy specimens and identification of disease-causing mutations in the TTR gene are necessary to establish the diagnosis. Deposition of amyloid in tissue can be demonstrated by Congo red staining of biopsy materials. Liver transplantation has been shown to be an effective therapeutic strategy for ameliorating hereditary ATTR amyloidosis, however, large numbers of patients are not suitable transplant candidates because of their age and/or advanced disease status. Recently, the clinical effects of TTR tetramer stabilizers, tafamidis and diflunisal, were demonstrated in randomised clinical trials, and tafamidis has been approved for the treatment of hereditary ATTR amyloidosis in European countries and in Japan. With the availability of disease-modifying therapies, early diagnosis and therapy become increasingly important in ATTR amyloidosis.
File Format	HTM / HTML
ISSN	0009918X
e-ISSN	18820654
Journal	Rinsho Shinkeigaku
Issue Number	12
Volume Number	54
Language	Japanese
Publisher	Nihon Shinkei Gakkai
Publisher Date	2014-01-01
Publisher Place	Japan
Access Restriction	Open
Subject Keyword	Discipline Neurology Amyloid Neuropathies, Familial Diagnosis Therapy Age Of Onset Amyloid Metabolism Genetics Benzoxazoles Therapeutic Use Diagnosis, Differential Diflunisal Early Diagnosis Genes, Dominant Liver Transplantation Mutation Prealbumin
Content Type	Text
Resource Type	Article
Subject	Neurology (clinical)

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