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Quality of life among polish Fabry patients - a cross-sectional study quality of life among polish Fabry patients

100%

Żuraw W., Golicki D., Jurecka A., Tylki-Szymańska A.

Open Medicine

2011

vol. 6

issue 6

741-749

This study sought to explore the following issues 1) health-related quality of life (HRQoL) in Fabry patients relative to the general population 2) the quality of life (QoL) level in heterozygous females as compared to hemizygous males and the general population. A prospective, cross-sectional study was performed in patients diagnosed with Fabry disease in Poland (n=33). HRQoL was assessed with two generic questionnaires: the Medical Outcomes Study Short Form-36 (SF-36) and EuroQol questionnaire (EQ-5D), which includes the EQ-5D descriptive system and the EQ-visual analogue scale (EQ VAS), as well as a disease-specific author’s questionnaire. When measured with EQ-VAS, the subjective perception of health status was significantly lower in Fabry patients than that of the general population. SF-36 norm-based scores showed that patients are disadvantaged mainly in social functioning, bodily pain, and mental health. Objective assessments of HRQoL according to the EQ-5D Index tend to be lower for males than for females. Only male patients experienced extreme problems identified by the EQ-5D descriptive system. HRQoL of Fabry patients, measured by EQ-5D and SF-36, is lower as compared with that of the general population. Fabry disease effects QoL in its physical, mental and social dimensions.

Limitations of electrocardiographic criteria of left ventricular hypertrophy in differentiation between hypertrophic cardiomyopathy, cardiac amyloidosis and Fabry disease

63%

Tometczak M., Znamirowska J., Topa J., Pastor P., Waksmundzki D., Grzebinoga A., Mizia-Stec K.

Annales Academiae Medicae Silesiensis

2023

issue 78

173-178

WSTĘP: Przerost lewej komory (left ventricular hypertrophy – LVH) jest powszechną patologią i powinien być rozróżniany za pomocą metod inwazyjnych i nieinwazyjnych. Elektrokardiografia (electrocardiography – ECG) jest metodą pierwszego wyboru w klinicznej ocenie pacjentów z LVH. MATERIAŁ I METODY: Przeprowadzono retrospektywną analizę 77 pacjentów (wiek: 54.1 ± 16.3; 50,6% mężczyzn) z cechami przerostu serca w badaniu echokardiograficznym. Populację podzielono na trzy podgrupy: 60 pacjentów z kardiomiopatią przerostową (hypertrophic cardiomyopathy – HCM), 11 z amyloidozą serca (cardiac amyloidosis – CA) i 6 z chorobą Fabry’ego (Fabry disease – FD). Oceniono zapisy ECG oraz zweryfikowano obecność i częstość występowania ośmiu kryteriów LVH. WYNIKI: W badanej populacji kryteria LVH ECG były spełnione u 67,6% pacjentów z HCM, 53,8% z CA i 57,1% z FD. Analiza liczby kryteriów LVH ujawniła: żadnego kryterium nie spełniało 32,4% pacjentów z HCM, 46,2% z CA oraz 42,9% z FD; 1 kryterium spełniało 21,1% pacjentów z HCM, 46,2% z CA oraz 14,3% z FD; 2–4 kryteria stwierdzono u 33,8% pacjentów z HCM, 7,7% z CA oraz 42,9% z FD; 5–7 kryteriów występowało u 12,7% pacjentów z HCM i u żadnego pacjenta z CA i FD. Żaden pacjent nie spełniał ośmiu kryteriów. WNIOSKI: Elektrokardiograficzne kryteria LVH nie są swoistymi wykładnikami LVH. Różnice pomiędzy echokardiografią przezklatkową (transthoracic echocardiography – TTE) oraz zmianami elektrokardiograficznymi są charakterystyczne dla CA oraz FD, co może budzić podejrzenie wystąpienia tych chorób. Brak spełnionych kryteriów LVH w ECG nie wyklucza tych diagnoz.

INTRODUCTION: Left ventricular hypertrophy (LVH) is a common pathology and should be differentiated using non-invasive and invasive methods. Electrocardiography (ECG) is the first choice method for the clinical evaluation of patients with LVH. MATERIAL AND METHODS: A retrospective analysis of 77 patients (pts; age: 54.1 ± 16.3; 50.6% men) with features of cardiac hypertrophy in an echocardiographic examination was performed. The population was divided into three subgroups: 60 pts with hypertrophic cardiomyopathy (HCM), 11 pts with cardiac amyloidosis (CA) and 6 pts with Fabry disease (FD). Multiple ECG records were evaluated and the presence and frequency of eight different LVH criteria were verified. RESULTS: Among the study population LVH criteria were present in 67.6% pts with HCM, 53.8% pts with CA and 57.1% pts with FD. Analysis of the number of LVH ECG criteria revealed: none of LVH ECG criteria: in 32.4% pts of HCM, in 46.2% pts with CA, in 42.9% pts with FD; 1 LVH ECG criterion in 21.1% pts with HCM, 46.2% pts with CA and 14.3% pts with FD; 2–4 criteria in 33.8% pts with HCM, 7.7% pts with CA and 42.9% pts with FD; 5–7 criteria in 12.7% pts with HCM and no pts with CA or FD. No patient fulfilled the eight LVH ECG criteria. CONCLUSIONS: Electrocardiographic LVH criteria are not sensitive indicators of LVH. The mismatch between transthoracic echocardiography (TTE) and ECG findings is characteristic for CA and FD that may raise the suspicion of these diseases. The lack of LVH ECG criteria do not exclude these diagnoses.

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1 Annales Academiae Medicae Silesiensis

1 Open Medicine

1 2024

1 2011

1 Golicki D.

1 Grzebinoga A.

1 Jurecka A.

1 Mizia-Stec K.

1 Pastor P.

1 Tometczak M.

1 Topa J.

1 Tylki-Szymańska A.

1 Waksmundzki D.

1 Znamirowska J.

1 Żuraw W.

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Quality of life among polish Fabry patients - a cross-sectional study quality of life among polish Fabry patients

Limitations of electrocardiographic criteria of left ventricular hypertrophy in differentiation between hypertrophic cardiomyopathy, cardiac amyloidosis and Fabry disease