Carpal Tunnel Syndrome and Amyloid Cardiomyopathy

Ikram, Asad; Sperry, Brett W.; Reyes, Bryan A.; Seitz, William H.; Hanna, Mazen

doi:10.1016/j.cardfail.2017.07.026

Cited by 5 publications

(4 citation statements)

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“…ATTR amyloidosis, a life-threatening and underrecognized disease, was formerly considered untreatable; however, the recent availability of disease-modifying therapies has renewed efforts to increase awareness of the initial disease symptoms and the assessments that are available to confirm a diagnosis. A diagnostic algorithm is recommended for the general practitioner based on initial red flag symptoms and manifestations of cardiac or neurologic involvement, and the early use of genetic testing in patients with unexplained peripheral neuropathy should trigger referral to a multidisciplinary team at an expert center [1,17,[83][84][85][86][87].…”

Section: Discussionmentioning

confidence: 99%

Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner

et al. 2020

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Background Transthyretin amyloidosis (also known as ATTR amyloidosis) is a systemic, life-threatening disease characterized by transthyretin (TTR) fibril deposition in organs and tissue. A definitive diagnosis of ATTR amyloidosis is often a challenge, in large part because of its heterogeneous presentation. Although ATTR amyloidosis was previously considered untreatable, disease-modifying therapies for the treatment of this disease have recently become available. This article aims to raise awareness of the initial symptoms of ATTR amyloidosis among general practitioners to facilitate identification of a patient with suspicious signs and symptoms. Methods These consensus recommendations for the suspicion and diagnosis of ATTR amyloidosis were developed through a series of development and review cycles by an international working group comprising key amyloidosis specialists. This working group met to discuss the barriers to early and accurate diagnosis of ATTR amyloidosis and develop a consensus recommendation through a thorough search of the literature performed using PubMed Central. Results The cardiac and peripheral nervous systems are most frequently involved in ATTR amyloidosis; however, many patients often also experience gastrointestinal and other systemic manifestations. Given the multisystemic nature of symptoms, ATTR amyloidosis is often misdiagnosed as a more common disorder, leading to significant delays in the initiation of treatment. Although histologic evaluation has been the gold standard to confirm ATTR amyloidosis, a range of tools are available that can facilitate early and accurate diagnosis. Of importance, genetic testing should be considered early in the evaluation of a patient with unexplained peripheral neuropathy. Conclusions A diagnostic algorithm based on initial red flag symptoms and manifestations of cardiac or neurologic involvement will facilitate identification by the general practitioner of a patient with clinically suspicious symptoms, enabling subsequent referral of the patient to a multidisciplinary specialized medical center.

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Section: Discussionmentioning

confidence: 99%

Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner

et al. 2020

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“…Once the information was consolidated, new fields were added (step 3). These fields were calculated following specific characteristics of the CA [24,25] that, according to the experts, may detect the disease [26][27][28]. In step 4, we discarded many fields with low-quality data, reducing memory and unnecessary operations.…”

Section: Data Processingmentioning

confidence: 99%

Real-World Data and Machine Learning to Predict Cardiac Amyloidosis

García-García

González-Romero

Martin-Perez

et al. 2021

IJERPH

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(1) Background: Cardiac amyloidosis or “stiff heart syndrome” is a rare condition that occurs when amyloid deposits occupy the heart muscle. Many patients suffer from it and fail to receive a timely diagnosis mainly because the disease is a rare form of restrictive cardiomyopathy that is difficult to diagnose, often associated with a poor prognosis. This research analyses the characteristics of this pathology and proposes a statistical learning algorithm that helps to detect the disease. (2) Methods: The hospitalization clinical (medical and nursing ones) records used for this study are the basis of the learning and training techniques of the algorithm. The approach consisted of using the information generated by the patients in each admission and discharge episode and treating it as data vectors to facilitate their aggregation. The large volume of clinical histories implied a high dimensionality of the data, and the lack of diagnosis led to a severe class imbalance caused by the low prevalence of the disease. (3) Results: Although there are few patients with amyloidosis in this study, the proposed approach demonstrates that it is possible to learn from clinical records despite the lack of data. In the validation phase, the algorithm first acted on data from the general study population. It then was applied to a sample of patients diagnosed with heart failure. The results revealed that the algorithm detects disease when data vectors profile each disease episode. (4) Conclusions: The prediction levels showed that this technique could be useful in screening processes on a specific population to detect the disease.

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“…Upon subsequent cardiac workup, two patients were found to have early cardiac involvement. 43 As CTS may be an early manifestation of amyloidosis, sampling and Congo red staining of the flexor retinaculum should be considered in patients presenting with idiopathic CTS, particularly if bilateral. In addition to neuropathy, hATTR has been shown to be associated with other neurological and musculoskeletal complications, including tendon rupture and spinal stenosis from deposition in the ligamentum flavum.…”

Section: Other Neurologic Presentationsmentioning

confidence: 99%

Neuropathy Associated with Systemic Amyloidosis

Kaku

Berk

2019

Semin Neurol

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Peripheral neuropathy occurs in the setting of both hereditary and acquired amyloidosis. The most common form of hereditary amyloidosis is caused by 1 of 140 mutations in the transthyretin (TTR) gene, which can lead to neuropathic hereditary transthyretin amyloidosis (hATTR; previously referred to as transthyretin familial amyloid polyneuropathy), whereas acquired immunoglobulin light chain (AL) amyloidosis is the most common acquired form. Patients typically present with a sensorimotor polyneuropathy, focal neuropathy such as carpal tunnel syndrome, or autonomic neuropathy. When neuropathy is the sole or dominant presenting symptom, the diagnosis is commonly delayed. With the advent of new drug therapies for AL amyloidosis and hATTR amyloidosis, including proteasome inhibitors, TTR silencers, and TTR protein stabilizers, the neurologist is uniquely positioned to diagnose neurologic manifestations of systemic amyloidosis, leading to earlier disease identification and treatment. This article reviews the epidemiology, clinical presentations, pathophysiology, diagnostic workup, and treatment of neuropathy in the setting of amyloidosis.

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Carpal Tunnel Syndrome and Amyloid Cardiomyopathy

Cited by 5 publications

References 0 publications

Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner

Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner

Real-World Data and Machine Learning to Predict Cardiac Amyloidosis

Neuropathy Associated with Systemic Amyloidosis

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