Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient

Наумова, Е. С.; Никитин, С. С.; Адян, Т. А.; Дружинин, Д. С.; Варшавский, В А

doi:10.17650/2222-8721-2018-8-1-46-52

Cited by 3 publications

(1 citation statement)

References 19 publications

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“…В неэндемичных странах средний интервал времени до постановки верного диагноза может составить от 2 до 5 лет. В некоторых случаях даже у полностью обследованных пациентов возникают трудности при верификации диагноза [69]. Задержка постановки верного диагноза лишает больного того самого «терапевтического окна», когда могла бы быть максимально эффективна существующая на сегодняшний день патогенетическая терапия [70].…”

Section: распространенность эффект основателяunclassified

Hereditary transthyretin amyloidosis

Адян

Поляков

2020

Neuromuscular Diseases

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Hereditary transthyretin amyloidosis is described in this review, including the TTR gene structure and mutation spectrum, the transthyretin protein structure and functions, the main clinical manifestations of transthyretin amyloidosis. Also the problems of differential diagnosis are discussed, the history of the spread of the disease among various ethnic groups is examined, information is provided on the current possibilities of pathogenetic and etiological treatment of the disease.

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Section: распространенность эффект основателяunclassified

Hereditary transthyretin amyloidosis

Адян

Поляков

2020

Neuromuscular Diseases

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Phenotypic heterogeneity and diagnostic features of transthyretin amyloidosis with polyneuropathy

Никитин

Бардаков

Супонева

et al. 2021

Neuromuscular Diseases

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Transthyretin amyloidosis (ATTR-amyloidosis) is a systemic progressive fatal disease, for which a modifying therapy has recently been proposed that delays the progression of the disease and improves the patient’s quality of life. The delay in the diagnosis of ATTR-amyloidosis is associated with the heterogeneity of the manifestations of the disease, as well as insufficient awareness of doctors of different specialties about the disease. A review of recent studies on the symptomatology, diagnosis, molecular genetic characteristics of ATTR-amyloidosis and the most common forms of the disease with the predominant involvement of peripheral nerves and the heart, as well as the kidneys, gastrointestinal tract, and eyes is presented. The international consensus recommendations for the diagnosis of suspected ATTR-amyloidosis using modern methods that facilitate early and accurate diagnosis are discussed. The reasons and the most frequent misdiagnoses of ATTR-amyloidosis, which also lead to a delay in the timely appointment of therapy, are considered. Molecular genetic testing should be considered early in the evaluation of a patient with unexplained peripheral neuropathy and cardiomyopathy. A diagnostic algorithm based on the initial symptoms and manifestations of the cardiovascular and nervous systems facilitates the identification of a patient with clinical suspicion of ATTR-amyloidosis by the general practitioner. Early diagnosis is critically important for patients with ATTR polyneuropathy, since the early prescription of Vindakel (tafamidis), registered in the Russian Federation in 2017, allows a significant clinical effect to be obtained. Timely administration of Vindakel significantly slows down the progression of the disease, improves the prognosis and quali ty of life in patients with ATTR polyneuropathy.

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Duodenal amyloidosis: a clinical case

Teplyakova,

Kharina,

Balueva

et al. 2024

Russian Medicine

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BACKGROUND: Amyloidosis is a chronic systemic disease that, in some cases, affects the organs of the gastrointestinal tract. CLINICAL CASE DESCRIPTION: A 62-year-old patient complained of painless enlargement of the lymph nodes in the supraclavicular region on the left side according to the puncture biopsy of the lymph node — reactive lymphoid hyperplasia. During the examination, duodenal amyloidosis was accidentally detected. The results of additional studies to determine the type of amyloid were nonspecific. The patient refused to continue the examination. CONCLUSION: This clinical case of duodenal amyloidosis is unusual and clearly demonstrates the difficulties of diagnosis, including the absence of a clinic and the nonspecificity of the endoscopic and radiological picture during the examination. In addition, the absence of an established chronic disease characteristic of amyloid A amyloidosis and the results of laboratory and instrumental research methods, excluding amyloid light chain amyloidosis and transthyretin amyloidosis, emphasise the main role of clinicians in diagnosing the underlying disease.

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Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient

Cited by 3 publications

References 19 publications

Hereditary transthyretin amyloidosis

Hereditary transthyretin amyloidosis

Phenotypic heterogeneity and diagnostic features of transthyretin amyloidosis with polyneuropathy

Duodenal amyloidosis: a clinical case

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