Immunoglobulin light chain (AL) amyloidosis is a severe disorder caused by the accumulation of amyloid fibrils, leading to organ failure. Early diagnosis is crucial to prevent irreversible damage, yet it remains a challenge due to nonspecific symptoms that often appear later in the disease progression. A retrospective study analyzed data collected from 133 AL amyloidosis patients and 271 non-AL patients with similar symptoms but different diagnoses between January 1st, 2017, and September 30th, 2022. Demographic data and laboratory test results were collected. Subsequently, significant features were identified by both logistic regression and independent expert clinical ability. Eventually, logistic regression and four machine learning (ML) algorithms were employed to construct a diagnostic model, utilizing fivefold cross-validation and blind set testing to identify the optimal model. The study successfully identified nine independent predictors of AL amyloidosis patients with kidney or cardiac involvement, respectively. Two models were developed to identify key features that distinguish AL amyloidosis from nephrotic syndrome and hypertrophic cardiomyopathy, respectively. The light gradient boosting machine (LightGBM) model emerged as the most effective, demonstrating superior performance with the area under curve (AUC) of 0.90 in both models, alongside high sensitivity, specificity, and F1-score. This research highlights the potential of using a machine learning-based LightGBM model to facilitate early and accurate diagnosis of AL amyloidosis. The model's effectiveness suggests it could be a valuable tool in clinical settings, aiding in the timely identification of AL amyloidosis among patients with non-specific symptoms. Further validation in diverse populations is recommended to establish its universal applicability.
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http://dx.doi.org/10.1007/s00277-024-06015-0 | DOI Listing |
Cureus
December 2024
Graduate Medical Education (GME) Internal Medicine, Mary Washington Healthcare, Fredericksburg, USA.
Cardiac amyloidosis is a rare but increasingly recognized cause of heart failure, often underdiagnosed until later stages of the disease. This report describes a case of transthyretin amyloidosis (ATTR) in a 68-year-old male patient with a significant medical history of rheumatoid arthritis (RA), a combination seldom documented in the literature. The patient presented with progressive symptoms of heart failure, and diagnostic testing confirmed ATTR cardiac amyloidosis through pyrophosphate (PYP) scanning.
View Article and Find Full Text PDFInt Med Case Rep J
January 2025
Department of Neurology, Luoyang Central Hospital Affiliated to Zhengzhou University, Luoyang Cerebrovascular Disease (Stroke) Clinical Medical Research Center, Regional Medical Center for Neurological Diseases of Henan Province, Luoyang, People's Republic of China.
Introduction: Transthyretin protein-related familial amyloidosis polyneuropathy (TTR-FAP) is an autosomal dominant genetic disease caused by mutations in the TTR gene. The disease is characterized primarily by peripheral and autonomic nerve damage. Disease progression is associated with frequent involvement of the heart, lungs, kidneys, eyes, and other organs.
View Article and Find Full Text PDFBr J Cancer Res
June 2024
The John Conant Davis Myeloma and Amyloid Program, Tufts Medical Center, Boston, MA, USA.
Background: Early diagnosis of systemic light-chain amyloidosis (AL) is needed because 25% of patients die within months of diagnosis. In patients with monoclonal gammopathy of undetermined significance (MGUS) or smoldering multiple myeloma (SMM) of the λ isotype, we explored the use of 2 screening variables: a free light chain difference of 23mg/L between λ and k and presence of IGLV genes that occur more frequently in AL.
Methods: Patients contacted us and we sent HIPAA release and consent forms for discussion by phone.
Liver Int
February 2025
Sorbonne Université, Service Médecine Interne, Centre de référence des maladies autoinflammatoires et des amyloses (CEREMAIA), Assistance Publique des hôpitaux de Paris, Hôpital Tenon, Paris, France.
Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV mutations. FMF patients can experience liver involvement, potentially leading to cirrhosis.
Objectives: This study aimed to evaluate liver involvement in FMF patients at a French tertiary centre for adult FMF.
J Minim Access Surg
January 2025
Department of Thoracic Surgery, Faculty of Medicine, Atilim University, Ankara, Turkey.
Introduction: Uniportal video-assisted thoracoscopic surgery (Uni-VATS) is an effective minimally invasive technique for pericardial drainage, biopsy and window creation in cases of pericardial effusion (PE).
Patients And Methods: This retrospective study evaluated 73 patients with PE who underwent pericardial window procedures between 2012 and 2024. Intraoperative and post-operative data related to Uni-VATS were assessed.
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