Limitations of lysoGb3 as a diagnostic marker in Fabry disease
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Questions and Answers

Which of the following symptoms or signs is NOT associated with the clinical presentation of this condition?

  • Heat intolerance
  • Neuropathic pain
  • Increased production of sweat (correct)
  • Angiokeratomas

    • What is the percentage of patients in the NIH series that had their diagnosis contributed by family history?

  • 32%
  • 46% (correct)
  • 89%
  • 35%

    • Which of the following laboratory tests is NOT recommended for evaluating kidney function in patients with this condition?

  • Creatinine
  • Spot urine protein-to-creatinine ratio
  • Complete blood count (correct)
  • Urinalysis with examination of the urine sediment

    • Which of the following is NOT a feature of irritable bowel syndrome?

    <p>Kidney failure</p> Signup and view all the answers

    What is the recommended evaluation for kidney disease of unknown etiology in a young individual?

    <p>Evaluation for Fabry disease</p> Signup and view all the answers

    Which imaging modality may be able to distinguish patients with Fabry disease from those with other causes of left ventricular hypertrophy?

    <p>Echocardiography</p> Signup and view all the answers

    Which test is typically used to establish the diagnosis of Fabry disease in male patients suspected of having the disease?

    <p>Enzymatic assay for alpha-Gal A activity</p> Signup and view all the answers

    What is the standard enzymatic test for measuring alpha-Gal A activity?

    <p>Measurement in leukocytes</p> Signup and view all the answers

    What is the range of alpha-Gal A activity levels in female carriers of Fabry disease?

    <p>Normal to very low</p> Signup and view all the answers

    What is the gold-standard assay to confirm the diagnosis of Fabry disease in males or females?

    <p>Genetic testing</p> Signup and view all the answers

    Which diagnostic assay is used as the initial test for males suspected of having Fabry disease?

    <p>Measurement of leukocyte alpha-Gal A activity</p> Signup and view all the answers

    What is the recommended diagnostic assay for females suspected of having Fabry disease?

    <p>Genetic testing for GLA gene mutations</p> Signup and view all the answers

    What is the diagnostic criteria for establishing a diagnosis of classic Fabry disease in males?

    <p>Virtually undetectable alpha-Gal A leukocyte activity</p> Signup and view all the answers

    What should be done if routine genetic testing does not identify a disease-causing mutation in a male patient suspected of having Fabry disease?

    <p>Perform gene-targeted deletion/duplication assays</p> Signup and view all the answers

    Which of the following is NOT a recommended evaluation for patients with Fabry disease or asymptomatic heterozygote females?

    <p>Routine hematology and chemistry profiles</p> Signup and view all the answers

    What is the preferred imaging method to assess fibrotic lesions in females with Fabry disease?

    <p>Cardiac MRI</p> Signup and view all the answers

    How often should asymptomatic female carriers of Fabry disease be initially reevaluated?

    <p>Every three to five years</p> Signup and view all the answers

    Which of the following conditions is NOT initially considered as a differential diagnosis for Fabry disease?

    <p>Rheumatoid arthritis</p> Signup and view all the answers

    Which of the following statements about lysoGb3 as a pharmacologic marker in Fabry disease is most accurate?

    <p>LysoGb3 levels are elevated in hemizygous males and, to a lesser extent, in heterozygous females with classic Fabry disease symptoms.</p> Signup and view all the answers

    Which of the following statements about Gb3 levels in Fabry disease is most accurate?

    <p>Gb3 levels are elevated in hemizygous males but are normal or only slightly elevated in heterozygous females.</p> Signup and view all the answers

    Which of the following statements about lysoGb3 and Gb3 levels in Fabry disease is most accurate?

    <p>Elevated plasma and urine lysoGb3 and Gb3 levels can confirm the diagnosis of Fabry disease in patients with a GLA gene variant of uncertain significance.</p> Signup and view all the answers

    Which of the following statements about tissue biopsy in Fabry disease is most accurate?

    <p>Kidney biopsy is usually performed to diagnose the cause of proteinuria and/or decreased kidney function.</p> Signup and view all the answers

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