Clinical manifestations and outcomes of Fabry disease in 150 adult patients

Moiseev, A.; Моисеев, С.В.; Tao, E.; Bulanov, Nikolai; Мершина, Е. А.; Ismailova, D S; Nosova, N.; Kuchieva, Agunda; Sholomova, Victoria; Новиков, П. В.; Павликова, Е.П.; Fomin, V V; Сафарова, А. Ф.

doi:10.32756/0869-5490-2021-3-43-51

Cited by 5 publications

(3 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Поражение сердца при БФ является прогностически неблагоприятным проявлением и причиной смерти [1,2]. В настоящее время в Российской Федерации выявлено всего ~350 пациентов с БФ, включая взрослых и детей, хотя этот показатель составляет, вероятно, не >15% от их истинного количества [3]. Учитывая, что заболевание редко встречается в клинической практике, низкая осведомленность врачей о данной патологии приводит к поздней диагностике заболевания и отсутствию патогенетической терапии [4,5].…”

Section: Discussionunclassified

“…Кардиологический фенотип БФ имеет позднее начало (после среднего возраста), без каких-либо других признаков болезни [6][7][8]. Согласно данным регистров пациентов с БФ, у значительной части из них длительное время заболевание остается недиагностированным [3,4,7]. Ошибочные диагнозы и несвоевременная диагностика приводят к прогрессированию необратимых изменений в тканях [8,9].…”

Section: Discussionunclassified

See 1 more Smart Citation

Diagnostics of Fabry disease in arrhythmology practice: a case report

et al. 2022

View full text Add to dashboard Cite

Heart failure in Fabry disease (FD) is unfavorable prognostic manifestation and cause of death. Given that the disease is rare in clinical practice, the low awareness of physicians about this pathology leads to its late diagnosis and the lack of pathogenetic therapy.Aim. To present a clinical picture of the cardiovascular phenotype in FD in order to increase the awareness of doctors about this disease.Material and methods. In this clinical case, an asymptomatic FD course up to 46 years of age and mani festation in the form of arrhythmia were observed. According to echo car dio graphy, severe left ventricular hypertrophy (myocardial mass index, 214 g/m2) without signs of left ventricular (LV) outflow tract obstruction and left atrial (LA) dilatation were revealed (LA volume index — 47 ml/m2). Right ventricular (RV) and LV systolic function was assessed using two-dimensional speckletracking strain echocardiography. Latent subclinical RV and LV systolic dysfunction was established.Results. Tandem mass spectrometry revealed a sharp decrease in alphagalactosidase activity of 0,03 umol/L/h (norm range, 0,80-15,00 umol/L/h), as well as an in creased Lyso-GB3 concentration of 95,18 ng/ml (normal range, 0,05-3,0 ng/ ml). A molecular genetic study of blood samples was carried out. By direct automatic sequencing of the GLA gene, a variant of the c.1229 C>T nucleotide sequence was identified, leading to the replacement of p.Thr4101le in the hemizygous state.Conclusion. This case shows the possibility and expediency of diagnosing FD in cardiology practice in patients with LV myocardial hypertrophy of unclear etiology, while atypical variants can be diagnosed only by molecular genetic testing.

show abstract

Section: Discussionunclassified

Diagnostics of Fabry disease in arrhythmology practice: a case report

et al. 2022

View full text Add to dashboard Cite

show abstract

“…Глазные поражения нередко встречаются у пациентов с ИЗС. При БФ наблюдаются мутовчатое помутнение роговицы, помутнение хрусталика (катаракта Фабри), повышенная извитость сосудов конъюнктивы и сетчатки [7]. Tакие признаки обычно не ухудшают зрение, но хорошо коррелируют с тяжестью заболевания и генотипом [8].…”

Section: клинические признакиunclassified

Red flags to diagnose infiltrative cardiomyopathies

et al. 2023

View full text Add to dashboard Cite

Infiltrative cardiomyopathies are a group of diseases characterized by the deposition of abnormal substances in heart tissues, which leads to thickening of the walls or dilation of chambers with a secondary decrease in wall thickness and the development of diastolic, less often systolic, ventricular dysfunction. Most often, these are progressive diseases that, in the absence of adequate therapy, have an unfavorable prognosis. Clinical manifestations of infiltrative cardiac diseases are variable, which often leads to diagnostic difficulties and errors. In most cases, specific laboratory and morphological tests are required to confirm or clarify the diagnosis. Early diagnosis is critical to initiating therapy and improving patient prognosis. This article provides characteristic signs and symptoms, the so-called "red flags", making it possible to suspect infiltrative cardiomyopathies, diagnose them at an early stage and start life-saving therapy.

show abstract

Multisystem lesions in orphan diseases: rheumatological aspects of Fabry's disease. Case report

Mashkunova,

Isabekova,

Botabekova

et al. 2023

Terapevticheskii arkhiv

View full text Add to dashboard Cite

FabryAndersen disease is a genetically determined, progressive disease related to lysosomal storage diseases, linked to the X chromosome, characterized by impaired glycosphingolipid metabolism, due to the deficiency or absence of the enzyme -galactosidase A. Fabry disease is a multisystem disease and is characterized by damage to vital organs kidneys, heart, brain, with the occurrence of complications that cause an unfavorable prognosis. Autoinflammation mechanisms with signs of chronic inflammation are involved in the pathogenesis of the disease. One of the features of Fabry disease are clinical manifestations in the form of arthralgia, fever, skin lesions, which are similar to rheumatological diseases. The article presents a clinical observation of the classical type of Fabry disease with multiple organ manifestation, which required differential diagnosis with rheumatological diseases. Rheumatologists are specialists who are involved in the early diagnosis of Fabry disease, so they should have a high awareness of this sphingolipidosis.

show abstract

Clinical manifestations and outcomes of Fabry disease in 150 adult patients

Abstract: To evaluate clinical manifestations and outcomes of Fabry disease (FD) in adult patients in the Russian population.

Cited by 5 publications

References 16 publications

Diagnostics of Fabry disease in arrhythmology practice: a case report

Diagnostics of Fabry disease in arrhythmology practice: a case report

Red flags to diagnose infiltrative cardiomyopathies

Multisystem lesions in orphan diseases: rheumatological aspects of Fabry's disease. Case report

Contact Info

Product

Resources

About