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International Journal of Cardiology Apr 2024Defining the epidemiology of systemic and cardiac amyloidosis (CA) is a contemporary challenge. The present study aimed to estimate incidence and time trends in...
AIM
Defining the epidemiology of systemic and cardiac amyloidosis (CA) is a contemporary challenge. The present study aimed to estimate incidence and time trends in amyloidosis-related hospitalizations (AH) in Veneto Region (5 million inhabitants, Northeastern Italy).
METHODS
International Classification of Diseases (ICD-9) codes were used to identify AH in Veneto from 2010 to 2020. AH were defined as any hospitalization with a discharge summary reporting an ICD-9 code for systemic amyloidosis. Hospitalization for CA was defined as records with ICD-9 code for systemic amyloidosis and ICD-9 code for heart failure,cardiomyopathy or arrhythmia. Hospital/outpatient encounters for carpal tunnel syndrome (CTS) surgeries also were extracted. AH incidence was estimated using a buffer of 5 years.
RESULTS
In the time range 2015-2020, the incidence rate of AH was 23.5 cases per 10 (95% confidence interval, CI, 21.8; 25.3), mainly affecting patients>65 years (76.2%) and males (63.5%), with a progressively increasing trend (percent annual increase 17%, 95% CI 12; 22%). The 10 year prevalence of AH in 2020 was 124.5 per 10 (95% CI 114.9; 134.8). In 2020, annual hospitalized prevalent cases of CA were about 70% of all cases (159/228), mainly patients >65 years and males. Among patients with multiple CTS surgeries, a subsequent code for cardiac disease was found in 913 after a median of 3.9 years, more frequently in men than in women (463/6.526 7.1% versus 450/11.406 3.9%).
CONCLUSIONS
In Veneto, we recorded a significantly increasing trend in the incidence of AH, with concordant increasing prevalence estimates.
Topics: Male; Humans; Female; Hospitalization; Amyloidosis; Heart Failure; Cardiomyopathies; Immunoglobulin Light-chain Amyloidosis; Italy
PubMed: 38262481
DOI: 10.1016/j.ijcard.2024.131804 -
Urology Case Reports Sep 2023Amyloidosis is defined as extracelluar deposition of amyloid, a fibrillary protein in one or more body sites. It can involve genito-urinary tract, primarily or...
Amyloidosis is defined as extracelluar deposition of amyloid, a fibrillary protein in one or more body sites. It can involve genito-urinary tract, primarily or secondarily, but isolated primary bladder amyloidosis is an extremely rare presentation. We herein report a rare case of 48-year-male patient presented with symptoms mimicking carcinoma urinary bladder especially painless haematuria. Transurethral resection of the mass was done in one sitting. The histopathological examination revealed to be a primary bladder amyloidosis. In the follow-up, patient had improvement in symptoms and no recurrence. We also briefly review the literature on primary bladder amyloidosis.
PubMed: 37576487
DOI: 10.1016/j.eucr.2023.102502 -
Clinical, Cosmetic and Investigational... 2024
PubMed: 38348089
DOI: 10.2147/CCID.S451378 -
JAAD Case Reports Jul 2024
PubMed: 38883180
DOI: 10.1016/j.jdcr.2024.04.033 -
Leukemia Jun 2024
Topics: Humans; Bortezomib; Dexamethasone; Cyclophosphamide; Immunoglobulin Light-chain Amyloidosis; Antibodies, Monoclonal; Antineoplastic Combined Chemotherapy Protocols; Male; Female; Aged; Treatment Failure; Middle Aged
PubMed: 38594348
DOI: 10.1038/s41375-024-02243-5 -
Porto Biomedical Journal 2023Light chain amyloidosis (AL) is a complex disorder defined by the extracellular deposition of insoluble amyloid fibrils formed by intact or fragmented immunoglobulin...
Light chain amyloidosis (AL) is a complex disorder defined by the extracellular deposition of insoluble amyloid fibrils formed by intact or fragmented immunoglobulin light chains, leading to cell dysfunction, rapid organ deterioration, and, ultimately, death. Although the clinical presentation of AL is directly connected to organ involvement, signs and symptoms of AL are frequently nonspecific, misinterpreted, and late recognized. Thus, an early diagnosis combined with effective therapies to cease disease progression and rescue organ function is essential. The aim of this study was to assess the knowledge and characterize the current clinical practice regarding AL diagnosis and referral among Portuguese physicians. A Delphi-like panel (one round only) with a group of national experts from different medical specialties (cardiology, hematology, internal medicine, nephrology, and neurology) was carried out online, in which 30 statements were classified using a 4-point Likert scale. For each statement, the consensus level was set at 70% for "fully agree/disagree" and the majority level was defined as >70% in agreement or disagreement. Although the results suggest the existence of adequate general knowledge of AL amyloidosis, they also disclosed the necessity to raise awareness for this disease. Overall, this Delphi panel revealed a high lack of consensus regarding the diagnosis and early management of patients with AL among different specialties despite the qualified majority obtained in 26 statements. An optimized strategy for AL early diagnosis, transversal to several medical fields, is urgently needed. Moreover, referral centers with access to diagnostic technology and a network of diverse specialties should be established to foster an early diagnosis and better disease approach to boost the possibility of a better outcome for patients with AL.
PubMed: 37846303
DOI: 10.1097/j.pbj.0000000000000231 -
Patient Related Outcome Measures 2023Patients with transthyretin amyloidosis (ATTR) experience a wide variety of symptoms and impacts on health-related quality of life (HRQoL). However, the lack of an...
PURPOSE
Patients with transthyretin amyloidosis (ATTR) experience a wide variety of symptoms and impacts on health-related quality of life (HRQoL). However, the lack of an ATTR-specific patient-reported outcome (PRO) measure has made consistent measurement of HRQoL in ATTR challenging. This paper describes the development of a conceptual model and subsequent content for the Transthyretin Amyloidosis - Quality of Life Questionnaire (ATTR-QOL), an ATTR-specific PRO measure.
METHODS
This was a cross-sectional, non-interventional, US-based study. The study design included three stages: 1) a targeted literature review followed by qualitative data collection with patients and experts; 2) development of a conceptual model and PRO measure; and 3) review of the PRO measure using a modified Delphi method, translatability assessment, and interviews with patients and experts. Revisions were made to the measure after each round of review.
RESULTS
Forty-four patients and 29 experts participated in this study. The conceptual model included two primary concepts of interest: symptoms (cardiac, neuropathic-peripheral, neuropathic-autonomic, and other) and impacts (eg, physical, role, and mental/emotional functioning). Seventy-two items were created (32 symptoms; 40 impacts) to align with the model. A recall period of one month was selected based on participant input.
CONCLUSION
The ATTR-QOL was created with significant patient involvement and guidance from a multidisciplinary group of experts. The mix of patient and clinical perspectives helped to ensure a balanced representation of all relevant disease experiences and clinical specialties. With further refinement from psychometric testing, the ATTR-QOL will provide a standard, comprehensive measure for all ATTR-specific research including both clinical trials and clinical practice.
PubMed: 37441025
DOI: 10.2147/PROM.S411721 -
Clinical Hematology International 2023
PubMed: 37869470
DOI: 10.46989/001c.89034 -
Case Reports in Gastroenterology 2023We describe an autopsied case of systemic AA amyloidosis secondary to metastatic renal cell carcinoma presenting intractable diarrhea. Severe diarrhea was the major...
We describe an autopsied case of systemic AA amyloidosis secondary to metastatic renal cell carcinoma presenting intractable diarrhea. Severe diarrhea was the major symptom for the diagnosis of AA amyloidosis. No renal symptoms which are common in AA amyloidosis secondary to renal cell carcinoma were shown because hemodialysis following bilateral nephrectomy had already been started 9 years before. Treatment against metastatic tumors as a solution of AA amyloidosis could not be performed because of bad performance status and the patient died 5 months after the diagnosis. Autopsy findings revealed that AA amyloid deposition was seen in multi-organs including the intestine. The metastatic tumors were histologically compatible as metastasis of renal cell carcinoma. There was no other cause of chronic inflammation such as inflammatory arthritis. We concluded that chronic inflammation provoked by the metastatic tumors of renal cell carcinoma was a major cause of systemic AA amyloidosis. Intestinal AA amyloidosis with malabsorption was the cause of death. Clinicians should keep it in mind that solid organ malignancy can be a cause of AA amyloidosis and renal cell carcinoma is the most common carcinomatous cause. This case is particularly instructive in that progression of amyloidosis may be missed in hemodialysis patients with anuria and that gastrointestinal symptoms can be the primary indicators of systemic amyloidosis. Endoscopic examination including biopsy is important for the diagnosis and early treatment of amyloidosis.
PubMed: 37928968
DOI: 10.1159/000531066 -
European Journal of Medical Research Jan 2024Transthyretin amyloid cardiomyopathy (ATTR-CM), characterized by the extracellular deposition of an insoluble amyloid protein in the heart, is one of the main causes of...
BACKGROUND
Transthyretin amyloid cardiomyopathy (ATTR-CM), characterized by the extracellular deposition of an insoluble amyloid protein in the heart, is one of the main causes of heart failure in elderly patients. In this study, our primary objective was to explore the diverse applications and temporal significance of 1-h and 3-h imaging using Tc-PYP in the context of ATTR-CM. Additionally, we compared tracer kinetics in the heart and bone to comprehensively assess the diagnostic advantages and time-related considerations associated with these two incubation periods.
METHODS
Twenty-seven patients at Nagasaki University Hospital who underwent Tc-PYP planar, and SPECT cardiac imaging were classified into two groups (ATTR-CM-positive and -negative groups) based on the American Heart Association statement. Cardiac retention was assessed with both a semiquantitative visual score and a quantitative analysis. To assess bone accumulation, a ROI with an equal volume was drawn on the sternum and calculated as the bone-to-contralateral ratio (B/CL). We also evaluated correlation between heart-to-contralateral lung (H/CL) ratio and left ventricular wall thickness.
RESULTS
Among patients who underwent Tc-PYP imaging, the H/CL ratio was significantly higher at 1 h than at 3 h regardless of the group (from 2.20 ± 0.36 to 1.99 ± 0.35, p < 0.01 in the positive group and from 1.35 ± 0.12 to 1.19 ± 0.21, p = 0.01 in the negative group). The gap of H/CL between highest H/CL of negative case and lowest H/CL of positive case was narrower in 3 h. On the other hand, correlation between H/CL and left ventricular posterior wall thickness tends to be clearer in 3 h (p = 0.12, r = 0.30 for 1 h, p = 0.04, r = 0.39 at 3 h).
CONCLUSION
Our study suggests that both 1-h and 3-h incubation times for Tc-PYP imaging have different benefits for ATTR cardiac amyloidosis. A one-hour incubation may be preferable for differential diagnostic purposes, while a three-hour incubation may provide greater utility in evaluating disease severity.
Topics: United States; Aged; Humans; Technetium Tc 99m Pyrophosphate; Diagnostic Imaging; Amyloidosis; Heart; Heart Failure
PubMed: 38184638
DOI: 10.1186/s40001-023-01629-y