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Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
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Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
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The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
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Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...
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Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
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Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.

Maarten Arends1, Christoph Wanner2, Derralynn Hughes3

  • 1Departments of Endocrinology and Metabolism and m.arends@amc.uva.nl.

Journal of the American Society of Nephrology : JASN
|December 17, 2016
PubMed
Summary

Classical Fabry disease presents more complications in men and women compared to nonclassical forms. Men with classical Fabry disease experienced more events and organ damage before treatment.

Keywords:
Fabry-s diseasealpha galactosidase Anatural disease coursenatural historyphenotype

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Area of Science:

  • Nephrology
  • Cardiology
  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Fabry disease, a rare genetic disorder, causes progressive damage to kidneys, heart, and brain.
  • Distinct clinical presentations exist between classical and nonclassical Fabry disease phenotypes.
  • Limited data exist on sex-specific natural disease progression across different phenotypes.

Purpose of the Study:

  • To investigate the natural course of Fabry disease.
  • To stratify disease progression by sex and phenotype before enzyme replacement therapy.
  • To identify differences in clinical events and biomarkers.

Main Methods:

  • Retrospective analysis of 499 adult patients from three international centers.
  • Stratification of patients by phenotype based on symptoms and enzyme activity.
  • Assessment of event-free survival from birth to initial clinical evaluation.

Main Results:

  • Classical Fabry disease showed a significantly higher event rate in both men and women compared to nonclassical disease.
  • Men with classical Fabry disease exhibited lower eGFR, increased left ventricular mass, and higher plasma globotriaosylsphingosine levels.
  • Women with classical Fabry disease had a greater likelihood of developing complications than those with nonclassical disease.

Conclusions:

  • Before enzyme replacement therapy, men with classical Fabry disease experienced more clinical events than other groups.
  • Women with classical Fabry disease are more prone to complications than those with nonclassical disease.
  • Findings may inform revised guidelines for Fabry disease monitoring and treatment strategies.