22 Questions
Which of the following symptoms or signs is NOT associated with the clinical presentation of this condition?
Increased production of sweat
What is the percentage of patients in the NIH series that had their diagnosis contributed by family history?
46%
Which of the following laboratory tests is NOT recommended for evaluating kidney function in patients with this condition?
Complete blood count
Which of the following is NOT a feature of irritable bowel syndrome?
Kidney failure
What is the recommended evaluation for kidney disease of unknown etiology in a young individual?
Evaluation for Fabry disease
Which imaging modality may be able to distinguish patients with Fabry disease from those with other causes of left ventricular hypertrophy?
Echocardiography
Which test is typically used to establish the diagnosis of Fabry disease in male patients suspected of having the disease?
Enzymatic assay for alpha-Gal A activity
What is the standard enzymatic test for measuring alpha-Gal A activity?
Measurement in leukocytes
What is the range of alpha-Gal A activity levels in female carriers of Fabry disease?
Normal to very low
What is the gold-standard assay to confirm the diagnosis of Fabry disease in males or females?
Genetic testing
Which diagnostic assay is used as the initial test for males suspected of having Fabry disease?
Measurement of leukocyte alpha-Gal A activity
What is the recommended diagnostic assay for females suspected of having Fabry disease?
Genetic testing for GLA gene mutations
What is the diagnostic criteria for establishing a diagnosis of classic Fabry disease in males?
Virtually undetectable alpha-Gal A leukocyte activity
What should be done if routine genetic testing does not identify a disease-causing mutation in a male patient suspected of having Fabry disease?
Perform gene-targeted deletion/duplication assays
Which of the following is NOT a recommended evaluation for patients with Fabry disease or asymptomatic heterozygote females?
Routine hematology and chemistry profiles
What is the preferred imaging method to assess fibrotic lesions in females with Fabry disease?
Cardiac MRI
How often should asymptomatic female carriers of Fabry disease be initially reevaluated?
Every three to five years
Which of the following conditions is NOT initially considered as a differential diagnosis for Fabry disease?
Rheumatoid arthritis
Which of the following statements about lysoGb3 as a pharmacologic marker in Fabry disease is most accurate?
LysoGb3 levels are elevated in hemizygous males and, to a lesser extent, in heterozygous females with classic Fabry disease symptoms.
Which of the following statements about Gb3 levels in Fabry disease is most accurate?
Gb3 levels are elevated in hemizygous males but are normal or only slightly elevated in heterozygous females.
Which of the following statements about lysoGb3 and Gb3 levels in Fabry disease is most accurate?
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.
Which of the following statements about tissue biopsy in Fabry disease is most accurate?
Kidney biopsy is usually performed to diagnose the cause of proteinuria and/or decreased kidney function.
Understanding the limitations of lysoGb3 as a pharmacologic marker in the diagnosis of Fabry disease.
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