Podcast
Questions and Answers
Which of the following symptoms or signs is NOT associated with the clinical presentation of this condition?
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?
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?
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?
Which of the following is NOT a feature of irritable bowel syndrome?
What is the recommended evaluation for kidney disease of unknown etiology in a young individual?
What is the recommended evaluation for kidney disease of unknown etiology in a young individual?
Which imaging modality may be able to distinguish patients with Fabry disease from those with other causes of left ventricular hypertrophy?
Which imaging modality may be able to distinguish patients with Fabry disease from those with other causes of left ventricular hypertrophy?
Which test is typically used to establish the diagnosis of Fabry disease in male patients suspected of having the disease?
Which test is typically used to establish the diagnosis of Fabry disease in male patients suspected of having the disease?
What is the standard enzymatic test for measuring alpha-Gal A activity?
What is the standard enzymatic test for measuring alpha-Gal A activity?
What is the range of alpha-Gal A activity levels in female carriers of Fabry disease?
What is the range of alpha-Gal A activity levels in female carriers of Fabry disease?
What is the gold-standard assay to confirm the diagnosis of Fabry disease in males or females?
What is the gold-standard assay to confirm the diagnosis of Fabry disease in males or females?
Which diagnostic assay is used as the initial test for males suspected of having Fabry disease?
Which diagnostic assay is used as the initial test for males suspected of having Fabry disease?
What is the recommended diagnostic assay for females suspected of having Fabry disease?
What is the recommended diagnostic assay for females suspected of having Fabry disease?
What is the diagnostic criteria for establishing a diagnosis of classic Fabry disease in males?
What is the diagnostic criteria for establishing a diagnosis of classic Fabry disease in males?
What should be done if routine genetic testing does not identify a disease-causing mutation in a male patient suspected of having Fabry disease?
What should be done if routine genetic testing does not identify a disease-causing mutation in a male patient suspected of having Fabry disease?
Which of the following is NOT a recommended evaluation for patients with Fabry disease or asymptomatic heterozygote females?
Which of the following is NOT a recommended evaluation for patients with Fabry disease or asymptomatic heterozygote females?
What is the preferred imaging method to assess fibrotic lesions in females with Fabry disease?
What is the preferred imaging method to assess fibrotic lesions in females with Fabry disease?
How often should asymptomatic female carriers of Fabry disease be initially reevaluated?
How often should asymptomatic female carriers of Fabry disease be initially reevaluated?
Which of the following conditions is NOT initially considered as a differential diagnosis for Fabry disease?
Which of the following conditions is NOT initially considered as a differential diagnosis for Fabry disease?
Which of the following statements about lysoGb3 as a pharmacologic marker in Fabry disease is most accurate?
Which of the following statements about lysoGb3 as a pharmacologic marker in Fabry disease is most accurate?
Which of the following statements about Gb3 levels in Fabry disease is most accurate?
Which of the following statements about Gb3 levels in Fabry disease is most accurate?
Which of the following statements about lysoGb3 and Gb3 levels in Fabry disease is most accurate?
Which of the following statements about lysoGb3 and Gb3 levels in Fabry disease is most accurate?
Which of the following statements about tissue biopsy in Fabry disease is most accurate?
Which of the following statements about tissue biopsy in Fabry disease is most accurate?
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