Fabry disease

Diagnosis and Testing

Should I be tested for Fabry disease?

The symptoms that occur in Fabry disease can also be found in other disease and conditions. Your doctor can help you decide if you should be tested for Fabry disease and refer you to a specialist for additional guidance.

Before testing, it is also important to think about how you would feel if the test results are positive for Fabry disease. What would it mean for your family members? Since Fabry is passed through families, there would be a chance that other family members may also have Fabry disease. What would evaluation and treatment be like? Please talk to your doctor or a genetic counselor to discuss the implications for both yourself and your family before testing. Take your time when deciding to get tested for Fabry disease. There is downloadable fact sheet available from the Emory Fabry disease team to help you consider these questions available here.

A genetic counselor can also help you think about the issues surrounding testing for Fabry disease. Genetic counselors can be found on the National Society of Genetic Counselors website.

References
  • Fabry Disease: A Guide for the Newly Diagnosed. (2006, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/factsheet44.pdf.
  • Discover Fabry. (n.d.). Retrieved November 22, 2019, from https://www.discoverfabry.com/.
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More Diagnosis and Testing Content

What family considerations are there for being tested for Fabry disease?

Do I have to be tested for Fabry disease?

When should I test my children to see if they have Fabry disease?

What tests are recommended for monitoring children with Fabry disease?

How is kidney function measured?

What symptoms might indicate my kidney function is worsening?

What tests are used to monitor Fabry disease?

Is my lipid panel abnormal because I have Fabry disease?

Why does it take so long for some people to be diagnosed with Fabry disease?

Is there newborn screening for Fabry disease?

What tests are performed to diagnose Fabry disease?

What states offer newborn screening for Fabry disease?

What family considerations are there for being tested for Fabry disease?

When going through the testing process, you may discover things you did not know about your family. You may learn that your children are at risk to be affected by Fabry disease. This may cause emotional turmoil for yourself and your family. A parent may feel guilty for having "passed Fabry disease" on to their children, even if they know that they have no control over which gene is inherited. Even though they do not want the health issues associated with Fabry disease, people in the family who are found not to have Fabry may feel guilty about having "escaped" the disease while others in the family weren't as lucky. This is termed survivor guilt. They may even feel left out or isolated on the outskirts of the family as the affected family members all share treatments, support, and physicians. Please talk to your doctor or genetic counselor to discuss the implications for both yourself and your family before testing. Take your time when deciding to get tested for Fabry disease.

For more information about how to talk to your doctor about Fabry disease or how to get tested for Fabry disease, please refer to the Fabry Community online resource.

A genetic counselor can also help you think about the issues surrounding testing for Fabry disease. Genetic counselors can be found on the National Society of Genetic Counselors website.

There is also a downloadable fact sheet available from the Emory Fabry disease team to help you consider these questions available here.

References
  • Fabry Disease: A Guide for the Newly Diagnosed. (2006, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/factsheet44.pdf.
  • Discover Fabry. (n.d.). Retrieved November 22, 2019, from https://www.discoverfabry.com/.
Do I have to be tested for Fabry disease?

If your family history suggests that you are at risk to be affected by Fabry disease, but you decide not to have a genetic test, you can still pursue all the services (kidney testing, heart evaluations, brain imaging, etc) available to people with Fabry disease. A genetic confirmation is not required in order to have screening. However, without a diagnosis, you won't be able to accurately assess the risk of passing Fabry disease to your children, you will be unable to get treatment with the FDA approved medication for Fabry disease, and it may be difficult to have monitoring tests covered by your insurance. Please talk to your doctor or genetic counselor to discuss the implications for both yourself and your family before testing. Take your time when deciding to get tested for Fabry disease.

For more information about how to talk to your doctor about Fabry disease or how to get tested for Fabry it may be helpful to reach out to a medical professional experienced in working with people with Fabry disease. A list of these Fabry centers can be found at the National Fabry Disease Foundation's clinical center list.

To find a genetic professional near you who can discuss genetic testing issues and options, consider consulting a genetic counselor. Genetic counselors can be found on the National Society of Genetic Counselors website: http://www.aboutgeneticcounselors.com/

References
  • Discover Fabry. (n.d.). Retrieved November 22, 2019, from https://www.discoverfabry.com/.
  • Fabry Disease: A Guide for the Newly Diagnosed. (2006, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/factsheet44.pdf.
When should I test my children to see if they have Fabry disease?

Some families choose to test their children before birth through prenatal testing. Some families test for Fabry disease at birth or later when their children can understand the implications of the test. No matter when you choose to test, there are special issues to consider prior to testing such as:

  • Would you consider a life insurance policy for your child?
  • Do you want to start treatment for your child?
  • Are you prepared to deal with the uncertain future for your child? (The unclear prognosis?)

Please talk to your Fabry doctor or genetic counselor to help decide when your children should be tested. To find a genetic counselor close to you, you can use the "Find a Genetic Counselor" search at the National Society of Genetic Counselors website.

References
  • Discover Fabry. (n.d.). Retrieved November 22, 2019, from https://www.discoverfabry.com/.
  • Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.
  • "Find a Genetic Counselor" search at the National Society of Genetic Counselors website. http://nsgc.org/p/cm/ld/fid=164
What tests are recommended for monitoring children with Fabry disease?

Children who are diagnosed with Fabry disease should have a detailed physical exam and annual laboratory tests to measure their overall health. Your Fabry doctor will talk to you about important tests and timing for your child. Tests may include:

  • A baseline evaluation of Fabry related symptoms
  • A review of your child's health history with focus on gastrointestinal symptoms, pain, sweating, and heat and cold intolerance
  • A physical exam and vital signs including height, weight, and blood pressure
  • A detailed family history to find other at risk family members
  • Heart tests (ECG, echocardiogram)
  • Eye exam
  • Kidney tests on blood and urine (glomerular filtration rate, microalbumin, albumin, and protein)
  • Fabry specific blood and urine tests (plasma and/or urine GL-3)
  • Identification/testing of at-risk family members.
  • Monitoring every 6-12 months by a medical professional familiar with Fabry disease to look for Fabry related symptoms.
  • Creation of a comprehensive monitoring and treatment plan including plan for starting enzyme replacement therapy

Monitoring and management guidelines exist in many countries for Fabry disease. Please talk to your Fabry doctor or a genetic counselor about important tests and timing for your child. In order to find a Fabry disease specialist or more information on Fabry disease treatment, please refer to the National Fabry Disease Foundation online resource.

References
  • Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Fabry disease in Infancy and Early Childhood: A systematic literature review. Genetics in Medicine. 2015 May;17(5):323-30. doi: 10.1038/gim.2014.120. Epub 2014 Sep 18.
  • Hopkin RJ, Jefferies JL, Laney DA, Lawson VH, Mauer M, Taylor MR, Wilcox WR; Fabry Pediatric Expert Panel. The management and treatment of children with Fabry disease: A United States-based perspective. Mol Genet Metab. 2016 Feb;117(2):104-13. http://www.ncbi.nlm.nih.gov/pubmed/26546059
How is kidney function measured?

Doctors monitor kidney function in people living with Fabry disease to watch for signs of kidney disease. These are important tests as damage to the kidneys could occur without the individual even knowing it. Kidney function tests may include:

  • Protein or albumin levels in the urine
  • Creatinine levels in the urine and blood
  • Glomerular filtration rate from blood results (GFR)
  • Kidney biopsy
  • Globotriacylceramide (GL3 or GB3) levels in the urine

The test for urinary protein tells doctors if the kidneys are damaged enough to allow large proteins to pass through the kidneys' filters into the urine. Large amounts of protein in the urine may cause it to look foamy. As kidney function worsens, the amount of protein in the urine increases. Doctors refer to this condition as proteinuria. Persistent and increased proteinuria is a warning sign and a marker of disease progression. Kidney damage also occurs with extra protein in your kidneys and urine.

Creatinine is a waste product in the blood created by the normal breakdown of muscle cells during activity. Healthy kidneys take creatinine out of the blood and it leaves the body through the urine. When kidneys are not working well, creatinine builds up in the blood. If a creatinine level is above the normal range, individuals probably will not feel sick; however, the elevation is a sign that the kidneys are not working at full strength. As kidney function decreases, the serum creatinine level increases.

The glomerular filtration rate (GFR) is an estimate of how efficiently the kidneys are filtering wastes from the blood. The normal GFR ranges between 90-120 mL/min/1.73m^2, but varies depending on age, gender and body size. By the time a person turns 30 years of age, GFR normally decreases over time at a constant rate of about 1 mL/min/1.73m^2/year. In Fabry disease, this rate may be increased and the renal doctor will work to stabilize this number. In some instances, a physician may choose to take a piece of kidney through a test called a renal biopsy to examine the amount of GL-3 built up in the kidney cells.

To learn more about Fabry disease and kidney function testing talk to a kidney doctor and/or a Fabry focused healthcare provider. In order to find a Fabry disease specialist or more information on Fabry disease treatment, please refer to the National Fabry Disease Foundation online resource.

References
  • Fabry Disease and the Kidneys. (2015, July 9). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/resources/Fabry_Disease_and_Kidney_Function.pdf.
  • Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.
  • Fabry disease revisited: Management and treatment recommendations for adult patients. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review. https://www.sciencedirect.com/science/article/pii/S1096719217307680?via%3Dihub Retrieved 12DEC19.
What symptoms might indicate my kidney function is worsening?

People in the early stages of kidney disease usually do not feel sick at all. The first sign of a kidney problem may be high blood pressure, a low number of red blood cells (anemia), or blood or protein in the urine (proteinuria). If kidney disease gets worse, people may need to urinate more or less often. They may feel tired or itchy. They may lose their appetite or experience nausea and vomiting. Their hands or feet may swell or feel numb. They may get drowsy or have trouble concentrating. The person's skin may darken. They may have muscle cramps. Please contact a Fabry doctor and/or kidney doctor immediately if an individual appears to be experiencing any of these symptoms. In order to find a Fabry disease specialist or more information on Fabry disease and the kidneys, please refer to the National Fabry Disease Foundation online resource.

References
  • Fabry Disease and the Kidneys. (2015, July 9). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/resources/Fabry_Disease_and_Kidney_Function.pdf.
  • Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.
What tests are used to monitor Fabry disease?

Although different Fabry specialists and centers may vary slightly in their test and time schedule. Current accepted and recommended global studies to evaluate Fabry-related symptoms exist and may be performed on an annual basis:

  • CBC, platelet count, serum creatinine + BUN, GL3 (blood and urine), Lyso-GL3, thyroid studies, and a basic metabolic chemistry panel
  • Routine Urinalysis
  • 24 hour Urine with creatinine, glomerular filtration rate, and protein clearance
  • Random urine measuring total protein and creatinine levels
  • EKG
  • Echocardiogram
  • Cardiac MRI (at baseline and as indicated)
  • Brain MRI or Head CT (at baseline and as indicated)
  • Hearing test
  • Eye exams
  • Pulmonary function tests
  • Depression/Anxiety assessment

For additional questions about these monitoring tests and when they should be scheduled, please refer to your Fabry doctor or a genetic counselor. In order to find a Fabry disease specialist or more information on Fabry disease treatment, please refer to the National Fabry Disease Foundation online resource.

References
  • Fabry Disease: A Guide for the Newly Diagnosed. (2006, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/factsheet44.pdf.
  • Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.
  • Fabry disease revisited: Management and treatment recommendations for adult patients. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review. https://www.sciencedirect.com/science/article/pii/S1096719217307680?via%3Dihub Retrieved 12DEC19.
Is my lipid panel abnormal because I have Fabry disease?

The compounds that builds up in the body with Fabry disease are called globotriaosylceramide (GL-3) and lyso-globotriaosylceramide (lyso-GL3) . Lyso-GL3 and GL-3 is not the same as cholesterol or triglycerides and are not impacted by the food people eat. Having high, harmful "bad" LDL cholesterol or high triglycerides is not part of Fabry disease. However, whether or not someone has Fabry disease, having high triglycerides or LDL cholesterol does increase the risk for a person to have heart problems. So, even though Fabry disease doesn't make it more likely for a person to have high LDL cholesterol issues or dyslipidemia, everyone with Fabry disease should have their cholesterol levels checked so that if it is high it can be treated by their doctor.

For additional questions about these lipid monitoring tests and when they should be scheduled, please refer to a Fabry doctor or genetic counselor. In order to find a Fabry disease specialist or more information on Fabry disease, please refer to the National Fabry Disease Foundation online resource.

References
  • Laney et al, Characterization Of Fasting Lipid Profiles in Patients with Fabry Disease, WORLD meeting, 2012.
  • Cartwright, DJ.; Cole, AL.; Cousins, AJ. & Lee, PJ. (2004). Raised HDL cholesterol in Fabry disease: response to enzyme replacement therapy. J Inherit Metab Dis., Vol. 6, No. 27, (2004), pp. 791-793, ISSN 0141-8955
  • Clarke JT; Stoltz JM & Mulcahey MR. (1976).Neutral glycosphingolipids of serum lipoproteins in Fabry?s disease. Biochim Biophys Acta., Vol. 2, No. 431, (May 1976), pp. 317-325, ISSN 0006-3002
  • http://www.fabrydisease.org/index.php/about-fabry-disease/fabry-disease-symptoms-overview
Why does it take so long for some people to be diagnosed with Fabry disease?

Fabry disease can take a long time to be diagnosed because the symptoms are not very specific and they overlap with other more common diseases, like chronic fatigue syndrome and irritable bowel syndrome. People may be called hypochondriacs or told symptoms are "all in their head" because many standard lab tests and assessment can't detect Fabry disease. Fabry disease is considered a rare disease and it is often not in the list of possible causes for health problems. Many people with Fabry disease are given a symptom specific diagnosis or a misdiagnosis until an eye finding, a kidney biopsy, or a family member is diagnosed with Fabry disease leading to the right diagnosis.

For more information about how to talk to your doctor about Fabry disease or how to get tested for Fabry disease, there are resources such as the "Fabry testing roadmap" that doctors can use to order testing or you can reach out to the Fabry support groups: Fabry Support and Information Group and the National Fabry Disease Foundation.

References
Is there newborn screening for Fabry disease?

In the United States, there is newborn screening for Fabry disease in a few states. These states do testing for enzyme levels of alpha-galactosidase A, or alpha-Gal, on newborn dried blood spots. Currently Missouri, Illinois, Oregon, Tennessee, and Maryland screen all babies born in the state for Fabry disease. Pennsylvania and New York offer the option for Fabry disease testing on the newborn screening (in selected areas of New York City). New Jersey and New Mexico will soon offer newborn screening for Fabry disease. Not all states test for Fabry disease as it has not yet be added to the Recommended Uniform Screening Panel (RUSP) that many states used to decide which new tests to begin adding to their newborn testing. A current listing of states performing newborn screening for Fabry disease can be found on the NewSTEPs website in the data visualizations section.

It is important to remember that a "positive" newborn screen for Fabry disease does not mean that a child has the condition. A false positive can occur for many different reasons and there are important follow up tests that need done to determine if a child actually has Fabry disease.

For more information about newborn screening for Fabry Disease, please refer to the Baby's First Test online resource.

In order to find a Fabry disease specialist who can provide more information on newborn screening for Fabry disease, please refer to the Fabry specialist finder online resource.

References
  • Hopkins, P.V., Campbell, C., Klug, T., Rogers, S., Raburn-Miller, J., and Kiesling, J. (2015). Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri. The Journal of Pediatrics, 166, 172-177.
  • Kiesling, J. L. (2014, October 28). Missouri's Full Population Pilot Screening for Fabry Disease and the Implications for Families. Retrieved from http://www.aphl.org/conferences/proceedings/Documents/2014/NBS/29Kiesling.pdf.
  • Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.
  • Baby's First Test - Fabry. (n.d.). Retrieved from http://www.babysfirsttest.org/newborn-screening/conditions/fabry.
  • Data Visualization, Newborn Screening Status for All Disorders, NewSTEPs, https://www.newsteps.org/resources/newborn-screening-status-all-disorders Accessed 12DEC19.
What tests are performed to diagnose Fabry disease?

Fabry disease can be diagnosed through a simple blood or saliva test. In males, the best way to start testing is doing alpha-galactosidase A (alpha-gal) enzyme testing on blood. If low or missing alpha-gal levels are found, the next step is to identify a disease causing mutation or change in the GLA gene by gene sequencing analysis to confirm a diagnosis of Fabry disease. Many women with Fabry disease can have normal levels of alpha-Galactosidase A enzyme so it is important for women to have the GLA gene sequencing to establish a diagnosis.

If an individual with health problems suggestive of Fabry disease and/or has low alpha gal enzyme levels with normal GLA gene sequencing results, then there is an additional test called deletion/duplication testing that can pick up missing or added information in the GLA gene that can be missed in normal sequencing genetic testing.

If there is a known GLA gene mutation in the family, a person at risk for Fabry disease in that family can have testing for that specific GLA gene mutation. A list of laboratories which perform testing for the GLA gene can be found in the NCBI Genetic Testing Registry). If testing is being delayed by lack of insurance or large out of pocket payments, there are free and reduced cost testing options in Fabry disease. Contact the Fabry support groups, Fabry Support and Information Group (FSIG) and the National Fabry Disease Foundation (NFDF), or a center specializing in Fabry disease care to learn more about these options. In order to find a Fabry disease specialist or more information on Fabry disease treatment, please refer to the National Fabry Disease Foundation online resource.

Resources for Fabry disease outside the United States may be available by speaking to your clinician or patient advocacy group.

References
  • Fabry Disease: A Guide for the Newly Diagnosed. (2006, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/factsheet44.pdf.
  • National Fabry Disease Foundation. (n.d.). Retrieved from http://www.fabrydisease.org.
  • National Fabry Disease Foundation. (n.d.). Retrieved from http://www.fabrydisease.org.
  • NCBI - Genetic Testing Registry - Fabry disease. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C0002986/.
What states offer newborn screening for Fabry disease?

In the United States, there is newborn screening for Fabry disease in a few states. These states do testing for enzyme levels of alpha-galactosidase A, or alpha-Gal, on newborn dried blood spots. Currently Missouri, Illinois, Oregon, Tennessee, and Maryland screen all babies born in the state for Fabry disease. Pennsylvania and New York offer the option for Fabry disease testing on the newborn screening (in selected areas of New York City). New Jersey and New Mexico will soon offer newborn screening for Fabry disease. Not all states test for Fabry disease as it has not yet be added to the Recommended Uniform Screening Panel (RUSP) that many states used to decide which new tests to begin adding to their newborn testing. A current listing of states performing newborn screening for Fabry disease can be found on the NewSTEPs website in the data visualizations section.

It is important to remember that a "positive" newborn screen for Fabry disease does not mean that a child has the condition. A false positive can occur for many different reasons and there are important follow up tests that need done to determine if a child actually has Fabry disease.

For more information about newborn screening for Fabry Disease, please refer to the Baby's First Test online resource.

In order to find a Fabry disease specialist who can provide more information on newborn screening for Fabry disease, please refer to the National Fabry Disease Foundation online resource.

References

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