Fabry disease

Overview

Who is Fabry disease named after?

Fabry disease is named after the first doctor, Dr. Johannes Fabry, who described the signs and symptoms of the disease in 1898. Fabry disease is also sometimes referred to as Anderson-Fabry disease, acknowledging another doctor, Dr. William Anderson, who also described its symptoms in 1898. Both Dr. Fabry and Dr. Anderson were dermatologists, or specialized doctors that treat skin problems. They both had patients with skin lesions common to Fabry disease called angiokeratomas. "Angio" refers to blood vessels and "keratoma" refers to hardened or callous skin. Angiokeratomas look like a painless, red rash and usually appear around the "bathing truck" area of the body or around the elbows and knees.

References
  • National Fabry Disease Foundation. (n.d.). Retrieved from http://www.fabrydisease.org.
  • Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.
  • MD, Book: Mehta A, Beck M, Sunder-Plassmann G, editors.Oxford: Oxford PharmaGenesis; 2006.
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What is the difference between classic and non-classic Fabry?

What is Fabry disease?

Are there other names for Fabry disease?

How common is Fabry disease?

How many people in the US have Fabry?

Is Fabry disease found more frequently anywhere in the world?

What is the usual abbreviation for Fabry disease?

What is the difference between classic and non-classic Fabry?

Fabry disease can be associated with a wide range of severity and it is commonly divided into two types, "classic" and "non-classic or late onset." Both men and women can have classic and non-classic Fabry disease. Because of the way Fabry disease is passed through families, symptoms often vary more in women than in men. The type of Fabry disease often depends on the age symptoms start, the organs affected by the disease, how fast the disease progresses, and how severe symptoms become.

Classic Fabry disease symptoms in males and females typically start in the first 2-10 years of life with onset of burning pain in the hands and feet, heat intolerance and gastrointestinal issues, such as diarrhea, pain and constipation. Without treatment the classic form of the disease progresses into kidney, heart, and other health problems between the ages of 20 to 45.

In non-classic Fabry disease, symptoms may start after childhood and may more severely affect one organ like the heart or kidney. It is important to note that in non-classic Fabry disease, heart disease and other symptoms still occur earlier than average men and women, so it is important to monitor the heart, kidneys, and brain from the time of diagnosis with Fabry disease. In both classic and non-classic Fabry disease, symptoms always worsen over time.

Rarely, Classic Fabry disease will be referred to as "Type I" and Non-Classic Fabry disease will be referred to as 'Type II" but that is not the preferred terminology.

To learn more about classic and non-classic Fabry disease, please talk to your doctor or speak with a Fabry center team member. Find a Fabry center near you at the National Fabry Disease online resource.

References
  • http://genetics.emory.edu/resources/fact-sheets.htmlEmory University Fabry disease FAQs, updated 6/12/2015
  • Biegstraaten M, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015 Mar 27;10:36.
  • 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
  • National Fabry Disease Foundation. (n.d.). Retrieved from http://www.fabrydisease.org.
  • 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 is Fabry disease?

Fabry disease is a progressive genetic condition that causes health problems like extreme tiredness (fatigue), little to no sweating (hypohidrosis), whorls in the cornea of the eyes (cornea verticillata), reddish-purplish skin rashes (angiokeratomas), burning pain in the hands and feet (neuropathic pain), problems in the heat and cold, frequent diarrhea and constipation, protein in the urine, and slow heartbeat (bradycardia). Without treatment, Fabry-related health problems will worsen leading to heart disease, kidney disease, and increased risk for strokes. Fabry disease occurs when a person's body does not make enough of an enzyme called alpha-galactosidase A (alpha-Gal) due to changes or mutations in the GLA gene. When alpha-gal is not working, substances called glycolipids [globotriaosylceramide (GL-3 or GB3) and lyso-globotriaosylceramide (Lyso-GL3 or LysoGB3)] build up in the body's lysosomes (the "recycling centers" of the cell). This storage leads to narrowed blood vessels, inflammation, and health problems all over the body, particularly in the skin, kidneys, heart, brain, intestines and nerves.

Fabry disease can be associated with a wide range of symptoms but is commonly divided into two types, "classic" and "non-classic" or "later onset." Both men and women can have classic and non-classic Fabry disease. Because of the way Fabry disease is passed through families, symptoms often vary more in women than in men. The type of Fabry disease often depends on the age symptoms start, the organs affected by the disease, how fast the disease progresses, and how severe symptoms become. Classic Fabry disease symptoms in males and females typically start in the first 2-10 years of life with onset of burning pain in the hands and feet, decreased sweating, problems in the heat, a reddish-purplish rash, and gastrointestinal issues such as diarrhea, bloating, pain and constipation. Without treatment, the classic form of the disease progresses into kidney disease, heart disease, and increased stroke risk between the ages of 20 to 45. In non-classic Fabry disease, symptoms may start somewhat later in life and may more severely affect one organ like the heart or kidney. In non-classic Fabry disease, heart disease and other symptoms still occur earlier than average men and women, so it is important to monitor the heart, kidneys, and brain from the time of diagnosis with Fabry disease. In both classic and non-classic Fabry disease, symptoms always worsen over time.

Currently there is no cure for Fabry disease, however, there are two Food & Drug Administration (FDA) approved medications in the United States that can help stabilize or prevent progression of the more serious health problems if started early in the disease's course. Fabrazyme®, or agalsidase beta, is an enzyme replacement therapy (ERT) usually given every two weeks by IV to breakdown the stored glycolipids in the body. Fabrazyme® is a treatment that can be given to individuals with any mutation or change in the GLA gene. Migalastat or Galafold® is pill taken every other day that is designed to help an individual with Fabry disease's own enzyme work more effectively (chaperone therapy). Galafold® only works for specific mutations in the GLA gene that are considered "amenable". Individuals with Fabry disease can talk to their doctors to learn if they may be able to take Galafold and check to see if their GLA change is considered amenable at the GLA mutation search website.

Outside of the United States, a second ERT medication for Fabry disease is available called Replagal® (agalsidase alfa). Replagal® is a treatment that can be given to individuals with any mutation or change in the GLA gene.

There are symptom specific treatments available to help relieve some of the other health problems of Fabry disease and there are also support networks to help individuals cope with the day-to-day struggles of living with Fabry disease such as the Fabry Support and Information Group (FSIG) and the National Fabry Disease Foundation (NFDF).

There is an excellent summary about Fabry disease written for doctors at Fabry Disease- GeneReviews.

References
  • 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
  • Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, O'Rourke E, Sims K, Walter G Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013 Oct;22(5):555-64. http://www.ncbi.nlm.nih.gov/pubmed/23860966
  • 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. Genet Med. 2015 May;17(5):323-30. http://www.ncbi.nlm.nih.gov/pubmed/25232851
  • Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.
  • Fabry Disease. Retrieved November 22, 2019, from http://rarediseases.org/rare-diseases/fabry-disease/.
  • Fabry Disease: A Guide for the Newly Diagnosed. (2006, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/factsheet44.pdf.
  • Fabry Disease: Important Facts for Women. (2005, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/Fabry.PDF.
  • National Fabry Disease Foundation. (n.d.). Retrieved November 22, 2019, from http://www.fabrydisease.org.
  • Fabry Support & Information Group. (n.d.). Retrieved November 22, 2019, from http://www.fabry.org.
  • 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.
Are there other names for Fabry disease?

Fabry disease can also be referred to as:

  • Alpha-Galactosidase A deficiency
  • Anderson-Fabry disease
  • Angiokeratoma corporis diffusum
  • Angiokeratoma diffuse
  • Ceramide trihexosidase deficiency
  • Fabry's disease
  • GLA deficiency
  • Hereditary dystopic lipidosis
  • Fabry
  • Late onset Fabry disease
  • Later onset Fabry disease
  • Classic Fabry disease
  • Non-classic Fabry disease
References
How common is Fabry disease?

Fabry disease (FD) is found in individuals of all different backgrounds, races, and ethnicities. Fabry disease occurs in a range of 1 in 1,250-117,000 live births worldwide.

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.
  • 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
  • Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.
  • 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. Genet Med. 2015 May;17(5):323-30. http://www.ncbi.nlm.nih.gov/pubmed/25232851
  • National Fabry Disease Foundation. (n.d.). Retrieved from http://www.fabrydisease.org.
How many people in the US have Fabry?

Around 5,000 people in the U.S. have been diagnosed with Fabry disease. That number is a mixture of men and women living with Fabry disease, as well as a combination of people with classic and non-classic Fabry disease. However, doctors fully believe that many people living with Fabry disease have not been diagnosed due to the nonspecific health problems associated with the condition (e.g. severe tiredness, burning pain in the hands and feet). Newborn screening in Missouri and Illinois have increased the numbers of people diagnosed with Fabry disease, but it has also made things a little more complicated. Some newborns and their family members have new changes or variants of unknown significance in the GLA gene and it is unclear if these changes contribute to the health issues associated with Fabry disease.

References
Is Fabry disease found more frequently anywhere in the world?

Fabry disease (FD) is found in individuals of all different backgrounds and ethnicities around the world; however, there are a few places where it is seen more frequently. For example, there is an increased number of people in Nova Scotia, Canada with classic Fabry disease and in Taiwan with nonclassic Fabry disease.

References
  • 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.
  • Mehta A, Hughes DA. Fabry Disease. 2002 Aug 5 [Updated 2017 Jan 5]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1292/
What is the usual abbreviation for Fabry disease?

The usual abbreviations for Fabry disease are FD or AFD.

References
  • Mehta A, Hughes DA. Fabry Disease. 2002 Aug 5 [Updated 2017 Jan 5]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://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.

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