-
Deutsches Arzteblatt International Mar 2020Systemic amyloidosis is a multi-system disease caused by fibrillary protein deposition with ensuing dysfunction of the affected organ systems. Its diagnosis is often... (Review)
Review
BACKGROUND
Systemic amyloidosis is a multi-system disease caused by fibrillary protein deposition with ensuing dysfunction of the affected organ systems. Its diagnosis is often delayed because the manifestations of the disease are variable and non-specific. Its main forms are light chain (AL) amyloidosis and transthyretinrelated ATTR amyloidosis, which, in turn, has both a sporadic subtype (wildtype, ATTRwt) and a hereditary subtype (mutated, ATTRv).
METHODS
This review is based on pertinent publications that were retrieved by a selective search in PubMed covering the years 2005 to 2019.
RESULTS
No robust epidemiological figures are available for Germany to date. Both AL amyloidosis and hereditary ATTR amyloidosis are rare diseases, but the prev - alence of ATTRwt amyloidosis is markedly underestimated. The diagnostic algorithm is complex and generally requires histological confirmation of the diagnosis. Only cardiac ATTR amyloidosis can be diagnosed non-invasively with bone scintigraphy once a monoclonal gammopathy has been excluded. AL amyloidosis can be considered a complication of a plasma cell dyscrasia and treated with reference to patterns applied in multiple myeloma. Despite the availability of causally directed treatment, it has not yet been possible to reduce the mortality of advanced cardiac AL amyloidosis. Three drugs (tafamidis, patisiran, and inotersen) are now available to treat grade 1 or 2 polyneuropathy in ATTRv amyloidosis, and further agents are now being tested in clinical trials. It is expected that tafamidis will soon be approved in Germany for the treatment of cardiac ATTR amyloidosis.
CONCLUSION
The diagnosis of amyloidosis is difficult because of its highly varied presentation. In case of clinical suspicion, a rapid, targeted diagnostic evaluation and subsequent initiation of treatment should be performed in a specialized center. When the new drugs to treat amyloidosis become commercially available, their use and effects should be documented in nationwide registries.
Topics: Amyloidosis; Germany; Humans
PubMed: 32295695
DOI: 10.3238/arztebl.2020.0159 -
Anais Brasileiros de Dermatologia 2018Primary cutaneous amyloidosis is limited to the skin without involving any other tissue. Nodular amyloidosis is rare, and atrophic nodular cutaneous amyloidosis is even... (Review)
Review
Primary cutaneous amyloidosis is limited to the skin without involving any other tissue. Nodular amyloidosis is rare, and atrophic nodular cutaneous amyloidosis is even rarer. We describe the fourth case of atrophic nodular cutaneous amyloidosis by searching PubMed databases. A 52-year-old female presented to our hospital with a 2-year history of orange papules and nodules without subjective symptom on her right abdomen. Review of systems was negative. Atrophic nodular amyloidosis may progress to primary systemic disease in up to 7% of cases. Because our patient had no systemic involvement, she was diagnosed with atrophic nodular cutaneous amyloidosis based on characteristic symptoms and histopathologic examination. Routine follow-up for this patient is necessary to detect any potential disease progression.
Topics: Abdominal Wall; Amyloidosis; Atrophy; Female; Humans; Middle Aged; Skin Diseases
PubMed: 29641709
DOI: 10.1590/abd1806-4841.20186504 -
Acta Medica Portuguesa Jun 1995
Topics: Amyloidosis; Humans; Portugal
PubMed: 7653286
DOI: No ID Found -
International Journal of Molecular... Mar 2023Cardiac amyloidosis is an uncommon restrictive cardiomyopathy featuring an unregulated amyloid protein deposition that impairs organic function. Early cardiac... (Review)
Review
Cardiac amyloidosis is an uncommon restrictive cardiomyopathy featuring an unregulated amyloid protein deposition that impairs organic function. Early cardiac amyloidosis diagnosis is generally delayed by indistinguishable clinical findings of more frequent hypertrophic diseases. Furthermore, amyloidosis is divided into various groups, according to a generally accepted taxonomy, based on the proteins that make up the amyloid deposits; a careful differentiation between the various forms of amyloidosis is necessary to undertake an adequate therapeutic treatment. Thus, cardiac amyloidosis is thought to be underdiagnosed, which delays necessary therapeutic procedures, diminishing quality of life and impairing clinical prognosis. The diagnostic work-up for cardiac amyloidosis begins with the identification of clinical features, electrocardiographic and imaging findings suggestive or compatible with cardiac amyloidosis, and often requires the histological demonstration of amyloid deposition. One approach to overcome the difficulty of an early diagnosis is the use of automated diagnostic algorithms. Machine learning enables the automatic extraction of salient information from "raw data" without the need for pre-processing methods based on the a priori knowledge of the human operator. This review attempts to assess the various diagnostic approaches and artificial intelligence computational techniques in the detection of cardiac amyloidosis.
Topics: Humans; Artificial Intelligence; Quality of Life; Amyloidosis; Amyloid; Machine Learning; Cardiomyopathies
PubMed: 36982754
DOI: 10.3390/ijms24065680 -
Circulation Journal : Official Journal... 2015Cardiac amyloidosis is a cardiomyopathy characterized by increased left ventricular (LV) wall thickness and normal or decreased LV cavity size. Congestive heart failure... (Review)
Review
Cardiac amyloidosis is a cardiomyopathy characterized by increased left ventricular (LV) wall thickness and normal or decreased LV cavity size. Congestive heart failure in cardiac amyloidosis is generally considered a predominantly diastolic phenomenon, with systolic dysfunction only occurring in late-stage disease. Echocardiography is a noninvasive, reproducible method of assessing cardiac features and function in cardiac amyloidosis, and some echocardiographic indices are prognostic for the amyloidoses, with M-mode and 2-dimensional echocardiography able to detect increased LV wall thickness. Moreover, Doppler flow measurements can incrementally assess diastolic LV dysfunction, which is characteristic of cardiac amyloidosis, and provide important prognostic information. Additionally, tissue Doppler imaging can detect subtle changes in both systolic and diastolic LV function, which cannot be detected by Doppler flow measurements, and LV longitudinal strain assessed by color tissue Doppler and speckle tracking echocardiography can provide more accurate LV functional and prognostic information than tissue Doppler imaging. This review describes the advances in echocardiography and its crucial role in the diagnosis and management of cardiac amyloidosis.
Topics: Amyloidosis; Cardiomegaly; Echocardiography, Doppler; Humans
PubMed: 25766406
DOI: 10.1253/circj.CJ-14-1425 -
Acta Haematologica 2020Cardiac amyloidosis, the majority of cases of which are due to immunoglobulin light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR), affects different... (Review)
Review
Cardiac amyloidosis, the majority of cases of which are due to immunoglobulin light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR), affects different aspects of the heart and cardiovascular system. Amyloid-induced cardiomyopathy, clinically manifesting with heart failure and electrophysiological abnormalities, has distinct characteristics compared to non-amyloid cardiomyopathies. Accordingly, specific management strategies are required. This paper will review the cardiovascular manifestations of patients with cardiac amyloidosis and their suggested treatment strategies, emphasizing the importance of multidisciplinary care.
Topics: Amyloidosis; Cardiomyopathies; Combined Modality Therapy; Disease Management; Disease Susceptibility; Heart Function Tests; Humans; Immunoglobulin Light-chain Amyloidosis; Phenotype
PubMed: 32408301
DOI: 10.1159/000506919 -
The American Journal of Medicine Jun 2022
Topics: Amyloidosis; COVID-19; Humans
PubMed: 35623719
DOI: 10.1016/j.amjmed.2022.02.004 -
Acta Haematologica 2020Amyloidosis comprises a diverse group of diseases characterized by misfolding of precursor proteins which eventually form amyloid aggregates and preceding... (Review)
Review
Amyloidosis comprises a diverse group of diseases characterized by misfolding of precursor proteins which eventually form amyloid aggregates and preceding intermediaries, which are deposited in target tissues causing progressive organ damage. In all forms of amyloidosis, vital organs may fail; depending on the specific amyloidosis type, this may occur rapidly or progress slowly. Beyond therapies to reduce the precursor protein (chemotherapy for light chain [AL] amyloidosis, anti-inflammatory therapy in serum A amyloid-osis [AA], and antisense RNA therapy in transthyretin amyloidosis [ATTR]), organ transplantation may also be a means to reduce amyloidogenic protein, e.g., in types of amyloid-osis in which the variant precursor is produced by the liver. Heart transplantation is a life-saving approach to the treatment of patients with advanced cardiac amyloidosis; however, amyloidosis may still be considered a contraindication to the procedure despite data supporting improved outcomes, similar to patients with other indications. Kidney transplantation is associated with particularly favorable outcomes in patients with amyloidosis, especially if the precursor protein has been eliminated. Overall, outcomes of solid organ transplantation are improving, but more data are needed to refine the selection criteria and the timing for organ transplantation, which should be performed in highly experienced centers involving multidisciplinary teams with close patient follow-up to detect amyloid recurrence.
Topics: Amyloidosis; Disease Management; Humans; Immunoglobulin Light-chain Amyloidosis; Organ Transplantation; Treatment Outcome
PubMed: 32535598
DOI: 10.1159/000508262 -
Seminars in Nuclear Medicine Jul 2020Systemic amyloidosis is a heterogeneous group of disorders where misfolded proteins deposit in the various organs as nonbranching fibrils with a β-pleated-sheet... (Review)
Review
Systemic amyloidosis is a heterogeneous group of disorders where misfolded proteins deposit in the various organs as nonbranching fibrils with a β-pleated-sheet structure called amyloid. Extensive extracellular deposition of these amyloid fibrils eventually leads to organ dysfunction. Involvement of the heart, termed as cardiac amyloidosis, leads to heart failure if left untreated and carries high morbidity and mortality. Current interest in cardiac amyloidosis is growing rapidly thanks to the recent development of effective targeted treatment options, driving the need for better and earlier detection of the condition, which is largely underdiagnosed and far commoner than recognized. Timely diagnosis of cardiac amyloidosis is challenging, but is poised to improve with emergence of newer noninvasive imaging techniques, potentially obviating the need for endomyocardial biopsy in some patients and providing prognostic information. With recent advances in the therapeutic options for cardiac amyloidosis, an area of immense interest is the adoption of imaging as biomarkers for longitudinal assessment of disease progression and treatment response. In this article, we provide an overview of cardiac amyloidosis, discuss the role of imaging modalities in cardiac amyloidosis, and explore future directions for imaging in cardiac amyloidosis.
Topics: Amyloidosis; Biomarkers; Heart Diseases; Humans; Multimodal Imaging
PubMed: 32540027
DOI: 10.1053/j.semnuclmed.2020.01.001 -
Journal of Medical Case Reports Apr 2023Systemic amyloidosis is group of disorders characterized by the accumulation of insoluble proteins in tissues. The most common form of systemic amyloidosis is light... (Review)
Review
BACKGROUND
Systemic amyloidosis is group of disorders characterized by the accumulation of insoluble proteins in tissues. The most common form of systemic amyloidosis is light chain amyloidosis, which results from the accumulation of misfolded immunoglobulins. The disease is progressive, with treatment targeted at the underlying plasma cell dyscrasia. Since essentially any organ system can be affected, the presentation is variable and delays in diagnosis are common. Given this diagnostic difficulty, we discuss four different manifestations of light chain amyloidosis.
CASE PRESENTATIONS
In this case series, we discuss four cases of light chain amyloidosis. These include cardiac, hepatic, and gastrointestinal as well as autonomic and peripheral nerve involvement with amyloidosis. The patients in our series are of Caucasian background and include a 69-year-old female, a 29-year-old female, a 68-year-old male, and a 70-year-old male, respectively. The case discussions highlight variability in presentation and diagnostic challenges.
CONCLUSIONS
Amyloidosis is a rare but serious disease that is often complicated by long delays in diagnosis. Morbidity and mortality can sometimes be limited if diagnosed earlier. We hope our real life cases will contribute to understanding and to early suspicion that can lead to early diagnosis and management.
Topics: Male; Female; Humans; Aged; Adult; Amyloidosis; Immunoglobulin Light-chain Amyloidosis; Paraproteinemias; Heart
PubMed: 37081462
DOI: 10.1186/s13256-023-03886-1