In the absence of hypertension, hypertrophic cardiomyopathy is the most common cause of left ventricular hypertrophy (LVH). However, it has been reported that up to 3% of males with unexplained LVH have Fabry disease, an X-linked disorder of glycophospholipid metabolism that is due to a deficiency in the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). A 44-year-old man was admitted to our hospital with palpitations. He had a history of chronic renal failure diagnosed at age 33 followed by kidney transplantation performed at our institution 2 years later, as well as long-standing hypohidrosis. His medications included prednisolone (5 mg daily), mycophenolate mofetil (1,000 mg, bid), and cyclosporine (150 mg, bid). On hospital day two, an echocardiogram demonstrated increased left ventricular wall thickness (septal wall thickness of 28 mm, posterior wall thickness of 20 mm). Diastolic dysfunction was noted on transmitral flow patterns and tissue Doppler imaging. The patient was found to have low plasma alpha-Gal A activity. A previously reported H46R missense mutation was detected in his alpha-Gal A gene and the patient was subsequently diagnosed with Fabry disease.
Adult ; alpha-Galactosidase ; Cardiomyopathies ; Cardiomyopathy, Hypertrophic ; Cyclosporine ; Fabry Disease ; Genes, vif ; Humans ; Hypertension ; Hypertrophy, Left Ventricular ; Hypohidrosis ; Kidney Failure, Chronic ; Kidney Transplantation ; Male ; Mutation, Missense ; Mycophenolic Acid ; Plasma ; Prednisolone

BACKGROUND: Fabry disease is an X-linked recessive disorder caused by deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A). Previous studies identified many cases of Fabry disease among men with left ventricular hypertrophy (LVH). The purpose of this study was to define the frequency of Fabry disease among Korean men with LVH. METHODS: In this national prospective multicenter study, we screened Fabry disease in men with LVH on echocardiography. The criterion for LVH diagnosis was a maximum LV wall thickness 13 mm or greater. We screened 988 men with LVH for plasma α-Gal A activity. In patients with low α-Gal A activity (< 3 nmol/hr/mL), we searched for mutations in the α-galactosidase gene. RESULTS: In seven men, α-Gal A activity was low. Three had previously identified mutations; Gly328Arg, Arg301Gln, and His46Arg. Two unrelated men had the E66Q variant associated with functional polymorphism. In two patients, we did not detect GLA mutations, although α-Gal A activity was low on repeated assessment. CONCLUSION: We identified three patients (0.3%) with Fabry disease among unselected Korean men with LVH. Although the prevalence of Fabry disease was low in our study, early treatment of Fabry disease can result in a good prognosis. Therefore, in men with unexplained LVH, differential diagnosis of Fabry disease should be considered.
Diagnosis ; Diagnosis, Differential ; Echocardiography ; Fabry Disease ; Humans ; Hypertrophy, Left Ventricular ; Male ; Plasma ; Prevalence ; Prognosis ; Prospective Studies

Background: Dementia is a critical late-life health issue that occurs among members of aging societies. This study examined the relationships between eating out, dietary diversity, and mild cognitive impairment (MCI) among community-dwelling older adults. Methods: We analyzed data from 597 older adults (median age 73.0 years, interquartile range 69.0–78.0 years; 62.6% females). We applied the food frequency score to evaluate diet variety and the weekly consumption frequencies of ten food items were determined. The National Center for Geriatrics and Gerontology Functional Assessment Tool (NCGG-FAT) was used to evaluate MCI. Finally, we asked the participants how often they ate out each month; those who replied "none" were categorized into the "non-eating out" group. Results: The overall prevalence of MCI was 122 (20.4%), with a higher prevalence in the low dietary diversity group than in the high dietary diversity group (28.6% vs. 18.6%). After adjusting for covariates, the participants who self-described as not eating out were independently associated with low dietary diversity (odds ratio [OR]=1.97, 95% confidence interval [CI] 1.20–3.20), while low dietary diversity was associated with MCI (OR=1.72; 95% CI 1.02–2.87). Structural equation models revealed that not eating out had no direct effect on MCI but was associated with MCI via low dietary diversity (root mean square error of approximation=0.030, goodness-of-fit index=0.999, and adjusted goodness-of-fit index=0.984). Conclusions Although non-eating out may not have a direct effect on MCI, an indirect relationship may exist between eating-out habits and MCI via dietary diversity status.

Background: Dementia is a critical late-life health issue that occurs among members of aging societies. This study examined the relationships between eating out, dietary diversity, and mild cognitive impairment (MCI) among community-dwelling older adults. Methods: We analyzed data from 597 older adults (median age 73.0 years, interquartile range 69.0–78.0 years; 62.6% females). We applied the food frequency score to evaluate diet variety and the weekly consumption frequencies of ten food items were determined. The National Center for Geriatrics and Gerontology Functional Assessment Tool (NCGG-FAT) was used to evaluate MCI. Finally, we asked the participants how often they ate out each month; those who replied "none" were categorized into the "non-eating out" group. Results: The overall prevalence of MCI was 122 (20.4%), with a higher prevalence in the low dietary diversity group than in the high dietary diversity group (28.6% vs. 18.6%). After adjusting for covariates, the participants who self-described as not eating out were independently associated with low dietary diversity (odds ratio [OR]=1.97, 95% confidence interval [CI] 1.20–3.20), while low dietary diversity was associated with MCI (OR=1.72; 95% CI 1.02–2.87). Structural equation models revealed that not eating out had no direct effect on MCI but was associated with MCI via low dietary diversity (root mean square error of approximation=0.030, goodness-of-fit index=0.999, and adjusted goodness-of-fit index=0.984). Conclusions Although non-eating out may not have a direct effect on MCI, an indirect relationship may exist between eating-out habits and MCI via dietary diversity status.

Background: Dementia is a critical late-life health issue that occurs among members of aging societies. This study examined the relationships between eating out, dietary diversity, and mild cognitive impairment (MCI) among community-dwelling older adults. Methods: We analyzed data from 597 older adults (median age 73.0 years, interquartile range 69.0–78.0 years; 62.6% females). We applied the food frequency score to evaluate diet variety and the weekly consumption frequencies of ten food items were determined. The National Center for Geriatrics and Gerontology Functional Assessment Tool (NCGG-FAT) was used to evaluate MCI. Finally, we asked the participants how often they ate out each month; those who replied "none" were categorized into the "non-eating out" group. Results: The overall prevalence of MCI was 122 (20.4%), with a higher prevalence in the low dietary diversity group than in the high dietary diversity group (28.6% vs. 18.6%). After adjusting for covariates, the participants who self-described as not eating out were independently associated with low dietary diversity (odds ratio [OR]=1.97, 95% confidence interval [CI] 1.20–3.20), while low dietary diversity was associated with MCI (OR=1.72; 95% CI 1.02–2.87). Structural equation models revealed that not eating out had no direct effect on MCI but was associated with MCI via low dietary diversity (root mean square error of approximation=0.030, goodness-of-fit index=0.999, and adjusted goodness-of-fit index=0.984). Conclusions Although non-eating out may not have a direct effect on MCI, an indirect relationship may exist between eating-out habits and MCI via dietary diversity status.

Background: Dementia is a critical late-life health issue that occurs among members of aging societies. This study examined the relationships between eating out, dietary diversity, and mild cognitive impairment (MCI) among community-dwelling older adults. Methods: We analyzed data from 597 older adults (median age 73.0 years, interquartile range 69.0–78.0 years; 62.6% females). We applied the food frequency score to evaluate diet variety and the weekly consumption frequencies of ten food items were determined. The National Center for Geriatrics and Gerontology Functional Assessment Tool (NCGG-FAT) was used to evaluate MCI. Finally, we asked the participants how often they ate out each month; those who replied "none" were categorized into the "non-eating out" group. Results: The overall prevalence of MCI was 122 (20.4%), with a higher prevalence in the low dietary diversity group than in the high dietary diversity group (28.6% vs. 18.6%). After adjusting for covariates, the participants who self-described as not eating out were independently associated with low dietary diversity (odds ratio [OR]=1.97, 95% confidence interval [CI] 1.20–3.20), while low dietary diversity was associated with MCI (OR=1.72; 95% CI 1.02–2.87). Structural equation models revealed that not eating out had no direct effect on MCI but was associated with MCI via low dietary diversity (root mean square error of approximation=0.030, goodness-of-fit index=0.999, and adjusted goodness-of-fit index=0.984). Conclusions Although non-eating out may not have a direct effect on MCI, an indirect relationship may exist between eating-out habits and MCI via dietary diversity status.