Difficulties in diagnosing and treating AL amyloidosis: a case from practice

The term “amyloidosis” unites a group of rare diseases characterized by extracellular deposition of an insoluble fibrillar protein amyloid. Light chain amyloidosis (AL amyloidosis) is one of the most common and severe forms of this pathology that affects the heart (in the vast majority of patients), kidneys, gastrointestinal tract, nervous system, and skin. Without treatment, it takes from 6 to 12 months from the appearance of the first symptoms of heart damage to death. The diagnosis of AL amyloidosis is challenging due to the variety and non-specific nature of clinical manifestations and the need for morphological verification of the diagnosis. The possibilities of treating amyloidosis have significantly expanded recently and have made it possible to radically change the prognosis of the disease. However, the therapy can only take full effect with early diagnosis and the absence of irreversible organ damage. The aim of the work is to demonstrate the complexity of diagnosis of this condition and the available treatments for the timely identified AL amyloidosis. Conclusion. The presented clinical case demonstrates the potential of a multidisciplinary approach for early diagnosis and treatment of AL amyloidosis.

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Publication Details

Journal
PULMONOLOGIYA
Published
2025-08-08
DOI
https://doi.org/10.18093/0869-0189-2025-35-4-568-576
Primary Topic
Amyloidosis: Diagnosis, Treatment, Outcomes
Type
article
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article

Difficulties in diagnosing and treating AL amyloidosis: a case from practice

Magdalena Drozd, О. В. Фесенко, А. Н. Фурсов, Valentin Romanov et al.
PULMONOLOGIYA
Amyloidosis: Diagnosis, Treatment, Outcomes
article

Difficulties in diagnosing and treating AL amyloidosis: a case from practice

Magdalena Drozd, О. В. Фесенко, А. Н. Фурсов, Valentin Romanov, N. B. Lyapkova, Chernov MIu, V. P. Pop, A. Yu. Osminina
article en

Abstract

The term “amyloidosis” unites a group of rare diseases characterized by extracellular deposition of an insoluble fibrillar protein amyloid. Light chain amyloidosis (AL amyloidosis) is one of the most common and severe forms of this pathology that affects the heart (in the vast majority of patients), kidneys, gastrointestinal tract, nervous system, and skin. Without treatment, it takes from 6 to 12 months from the appearance of the first symptoms of heart damage to death. The diagnosis of AL amyloidosis is challenging due to the variety and non-specific nature of clinical manifestations and the need for morphological verification of the diagnosis. The possibilities of treating amyloidosis have significantly expanded recently and have made it possible to radically change the prognosis of the disease. However, the therapy can only take full effect with early diagnosis and the absence of irreversible organ damage. The aim of the work is to demonstrate the complexity of diagnosis of this condition and the available treatments for the timely identified AL amyloidosis. Conclusion. The presented clinical case demonstrates the potential of a multidisciplinary approach for early diagnosis and treatment of AL amyloidosis.

PULMONOLOGIYAVol. 35(4)
Russian Medical Academy of Continuous Professional Education (RU)
Openalex Percentile: Top 82%
Amyloidosis: Diagnosis, Treatment, Outcomes
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