Amyloidosis: diagnosis and new therapies for a misunderstood and misdiagnosed disease
Autor: | Victoria E Thomas, Merrill D. Benson, Justin Smith, Noel R. Dasgupta |
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Rok vydání: | 2019 |
Předmět: |
Pathology
medicine.medical_specialty Oligonucleotides Antineoplastic Agents Disease 030204 cardiovascular system & hematology Immunoglobulin light chain Oligodeoxyribonucleotides Antisense Bortezomib 03 medical and health sciences 0302 clinical medicine Medicine Humans Genetic Testing Diagnostic Errors Genetic testing biology medicine.diagnostic_test business.industry Amyloidosis Disease progression Organ dysfunction Antibodies Monoclonal medicine.disease Transthyretin Early Diagnosis 030220 oncology & carcinogenesis biology.protein Neurology (clinical) medicine.symptom business Rare disease |
Zdroj: | Neurodegenerative disease management. 9(6) |
ISSN: | 1758-2032 |
Popis: | Amyloidosis is a group of diseases characterized by extracellular deposition of amyloid fibril complexes. Fibril deposition results in organ dysfunction and possible failure. Amyloidosis is regarded as a rare disease, but in general is underdiagnosed. The two main types of systemic amyloidosis are immunoglobulin light chain and transthyretin amyloidosis. The increased availability of noninvasive cardiac imaging, genetic testing and improved laboratory assays and protein identification methods have led to increased diagnosis. However, in many cases, the diagnosis is not made until the patient develops organ impairment. Earlier diagnosis is required to prevent irreversible organ failure. Novel treatments for immunoglobulin light chain and transthyretin amyloidosis that halt disease progression, prolong and increase quality of life have recently become available. |
Databáze: | OpenAIRE |
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