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06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Systemic amyloidosis: a challenge for the rheumatologist.
Federico Perfetto1, Alberto Moggi-Pignone, Riccardo Livi
1Department of Internal Medicine, University of Florence, Viale Pieraccini 19, 50139 Firenze, Italy. perfetto@unifi.it
Nature Reviews. Rheumatology
|June 10, 2010
Summary
Amyloidosis involves abnormal protein buildup, causing diverse organ damage. Early diagnosis and targeted treatment are crucial for better outcomes in this complex disease.
Area of Science:
- Rheumatology
- Internal Medicine
- Pathology
Background:
- Amyloidosis is a group of diseases defined by extracellular deposition of insoluble fibrillar proteins.
- This deposition leads to various clinical syndromes based on organ involvement.
- It is classified into systemic and localized forms, with systemic amyloidosis having several subtypes.
Purpose of the Study:
- To review the clinical features and rheumatic manifestations of amyloidosis.
- To present the different types of amyloidosis, their prognoses, and treatment strategies.
Main Methods:
- Literature review of amyloidosis, focusing on clinical presentation and rheumatologic aspects.
- Discussion of diagnostic criteria, prognostic factors, and therapeutic approaches.
Main Results:
- Amyloidosis presents with diverse symptoms depending on the affected organs.
- Rheumatologic symptoms are common, leading patients to consult rheumatologists.
- Systemic amyloidosis includes hereditary (ATTR), reactive (AA), dialysis-related (Abeta(2)M), and light chain (AL) forms.
Conclusions:
- Early diagnosis of amyloidosis is critical for effective treatment and improved prognosis.
- Treatment strategies target symptoms or aim to reduce abnormal protein production.
- Despite advances, prognosis remains challenging and depends on disease type and organ dysfunction.
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