Raised HDL cholesterol in Fabry disease: Response to enzyme replacement therapy

Cartwright, Donna; Cole, Ashley L.; Cousins, Alison; Lee, P. J.

doi:10.1023/b:boli.0000045841.27968.06

Cited by 19 publications

(17 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In 1 study of 23 Fabry patients, measurements of total, low-density lipoprotein, and high-density lipoprotein cholesterol did not indicate a typical atherosclerotic profile; indeed, 65% of patients were found to have elevated high-density lipoprotein levels, the cardioprotective species. 22 Furthermore, enzyme replacement was found to have no effect on the lipid profile measured in this study. 22 However, other investigators report patients with abnormally low levels of high-density lipoprotein in association with severe coronary artery disease and myocardial infarction.…”

Section: Thurberg Et Al Cardiac Pathology Of Fabry Diseasementioning

confidence: 54%

“…22 Furthermore, enzyme replacement was found to have no effect on the lipid profile measured in this study. 22 However, other investigators report patients with abnormally low levels of high-density lipoprotein in association with severe coronary artery disease and myocardial infarction. 16 Laboratory studies have examined alternative mechanisms of disease that might link the common clinical findings in patients.…”

Section: Thurberg Et Al Cardiac Pathology Of Fabry Diseasementioning

confidence: 54%

See 1 more Smart Citation

Cardiac Microvascular Pathology in Fabry Disease

et al. 2009

View full text Add to dashboard Cite

Background-In classic Fabry patients, accelerated coronary atherosclerosis and left ventricular hypertrophy manifest in the fourth decade; however, signs of cardiovascular disease also are observed later in life in "cardiac variant" patients and symptomatic female heterozygotes. These disturbances are caused by globotriaosylceramide (GL-3) accumulation in the heart resulting from lysosomal ␣-galactosidase A deficiency. Methods and Results-We analyzed pretreatment and posttreatment endomyocardial biopsies from 58 Fabry patients enrolled in a 5-month, phase 3, double-blind, randomized, placebo-controlled trial, followed by a 54-month open-label extension study of recombinant human ␣-galactosidase A. Baseline evaluations revealed GL-3 deposits in interstitial capillary endothelial cells and large, laminated inclusions within cardiomyocytes. In this study, we evaluated microvascular GL-3 clearance; no clearance of GL-3 was observed in the cardiomyocytes during this trial. Five months of recombinant human ␣-galactosidase A treatment in the phase 3 trial resulted in complete microvascular clearance of GL-3 from 72% of treated patients compared with only 3% of placebo patients (PϽ0.001). The placebo group achieved similar results after 6 months of treatment in the open-label trial. In addition, the capillary endothelium remained free of GL-3 for up to 60 months in 6 of 8 patients who consented to an end-of-study biopsy. Conclusions-The findings suggest that long-term treatment with recombinant human ␣-galactosidase A may halt the progression of vascular pathology and prevent the clinical manifestations of atherosclerotic disease. This histopathological study should be a useful guide for clinicians and pathologists who diagnose and follow Fabry patients.

show abstract

Section: Thurberg Et Al Cardiac Pathology Of Fabry Diseasementioning

confidence: 54%

Section: Thurberg Et Al Cardiac Pathology Of Fabry Diseasementioning

confidence: 54%

Cardiac Microvascular Pathology in Fabry Disease

et al. 2009

View full text Add to dashboard Cite

show abstract

“…9 Both LDL-and HDL-cholesterol are commonly elevated. 35 Disturbance of the vasodilatative/vasoconstrictive mechanisms favoring the latter may account for the lymphedema in the absence of hypoproteinemia or varices. 36 Raynaud's phenomenon and vasospastic reactions leading to variant angina are common observations in Fabry patients.…”

Section: Cardiac Involvementmentioning

confidence: 99%

Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement

Eng

Germain

Banikazemi

et al. 2006

Genetics in Medicine

352

311

View full text Add to dashboard Cite

“…It is unclear whether this is due to the relative young age of most patients or to a specific change in the vascular response to injury brought about the glycolipid accumulation or the metabolic consequences of the disease. In this regard, high HDL cholesterol levels have been described in Fabry patients (Cartwright et al, 2004). In at least in some Fabry patients HDL particles contribute disproportionately to carry glycosphingolipids (Clarke et al, 1976).…”

Section: Organ System Sign/symptommentioning

confidence: 99%