eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Fabry Disease: Follow-up

Author: Maryam Banikazemi, MD, Assistant Professor of Clinical Pediatrics, Department of Clinical and Molecular Genetics, Columbia University College of Physicians and Surgeons; Director of Newborn Screening Program, Director of Lysosomal Storage Disorders Program, Department of Pediatrics, Columbia University Medical Center
Coauthor(s): Robert J Desnick, MD, PhD, Professor, Chair, Department of Human Genetics, Mount Sinai School of Medicine; Kenneth H Astrin, PhD, Associate Professor of Human Genetics, Department of Human Genetics, Mount Sinai School of Medicine
Contributor Information and Disclosures

Updated: Jul 8, 2009

Follow-up

Further Outpatient Care

  • Genetic counseling is necessary for the proband, and a careful pedigree should be obtained to identify all family members potentially affected by Fabry disease.
  • Because Fabry disease is an X-linked recessive trait, all daughters of affected males are carriers, and no sons of affected males have the gene for Fabry disease. Typically, mothers of probands are obligate carriers, and their siblings should be considered at risk.

Inpatient & Outpatient Medications

Transfer

  • Transfer to a center with specialists familiar with Fabry disease may be indicated.

Deterrence/Prevention

  • Prenatal testing can be performed in women who are pregnant and are carriers of the gene to identify fetuses affected with Fabry disease. A karyotype should be obtained first to identify if the fetus is male. Enzyme activity can then be measured, using either chorionic villus sampling (CVS) or amniotic fluid samples.
  • If the mutation carried in the family is known, DNA can be isolated from CVS or amniotic fluid samples, and genotyping can be performed.

Complications

  • As with all chronic illnesses, patients are at risk for anxiety disorders, depression, or both.

Prognosis

  • Prognosis for patients with Fabry disease has improved with the more widespread use of advanced medical techniques, such as hemodialysis and renal transplant.
  • Enzyme replacement therapy (ERT) has demonstrated favorable results in modifying long-term complications of Fabry disease. Early treatment with ERT to prevent irreversible damage to the organs seems reasonable.

Miscellaneous

Medicolegal Pitfalls

  • Failure to appreciate signs and symptoms of Fabry disease (Most patients with the disease experience long delays from the time the first symptoms appear to the time of diagnosis.)
  • Failure to perform appropriate laboratory testing
  • Failure to provide genetic counseling

Special Concerns

 


More on Fabry Disease

Overview: Fabry Disease
Differential Diagnoses & Workup: Fabry Disease
Treatment & Medication: Fabry Disease
Follow-up: Fabry Disease
Multimedia: Fabry Disease
References
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References

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  3. [Best Evidence] West M, Nicholls K, Mehta A, et al. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol. May 2009;20(5):1132-9. [Medline].

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  31. Schiffmann R, Murray GJ, Treco D, et al. Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A. Jan 4 2000;97(1):365-70. [Medline]. [Full Text].

  32. von Scheidt W, Eng CM, Fitzmaurice TF, et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med. Feb 7 1991;324(6):395-9. [Medline].

  33. Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet. Jul 2004;75(1):65-74. [Medline]. [Full Text].

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Further Reading

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Keywords

Fabry disease, Anderson-Fabry disease, Fabry's disease, α-galactosidase A deficiency, alpha-galactosidase A deficiency, angiokeratoma corporis diffusum universale, hereditary dystopic lipidosis, GLA deficiency, ceramide trihexosidase deficiency, error in metabolism, error of glycosphingolipid metabolism, stroke, acroparesthesias, hypohidrosis, angiokeratoma, renal failure, lysosomal storage disorder, enzyme replacement therapy, ERT, heart failure, myocardial infarction, left ventricular hypertrophy, LVH, valvular regurgitation, mitral valve prolapse, lymphedema, treatment, diagnosis

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Contributor Information and Disclosures

Author

Maryam Banikazemi, MD, Assistant Professor of Clinical Pediatrics, Department of Clinical and Molecular Genetics, Columbia University College of Physicians and Surgeons; Director of Newborn Screening Program, Director of Lysosomal Storage Disorders Program, Department of Pediatrics, Columbia University Medical Center
Maryam Banikazemi, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Nothing to disclose.

Coauthor(s)

Robert J Desnick, MD, PhD, Professor, Chair, Department of Human Genetics, Mount Sinai School of Medicine
Robert J Desnick, MD, PhD is a member of the following medical societies: American College of Medical Genetics, American Pediatric Society, American Society for Biochemistry and Molecular Biology, American Society for Clinical Investigation, American Society for Microbiology, American Society of Human Genetics, Central Society for Clinical Research, Eastern Society for Pediatric Research, New York Academy of Sciences, Sigma Xi, Society for Experimental Biology and Medicine, and Society for Pediatric Research
Disclosure: Amicus Therapeutics Consulting Fees, Ownership Interest, Stock Consulting; Genzyme Consulting Fees, Intellectual Property Rights, Grants/Research Funds, Royalty Consulting

Kenneth H Astrin, PhD, Associate Professor of Human Genetics, Department of Human Genetics, Mount Sinai School of Medicine
Kenneth H Astrin, PhD is a member of the following medical societies: American Society of Human Genetics
Disclosure: Nothing to disclose.

Medical Editor

Robert D Steiner, MD, Professor, Departments of Pediatrics and Molecular and Medical Genetics, Vice Chair for Research, Department of Pediatrics, Oregon Health & Science University; Director and Consulting Staff, Metabolic Bone Disease Clinic, Shriner's Hospital and Doernbecher Children's Hospital; Co-Director: Pediatric and Child Health Research, Oregon Clinical and Translational Research Institute (CTSA).
Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics, American Society of Human Genetics, Oregon Medical Association, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism, and Western Society for Pediatric Research
Disclosure: Genzyme Honoraria Speaking and teaching; Genzyme Grant/research funds Other; Shire Honoraria Speaking and teaching; Actelion Honoraria Speaking and teaching; Biomarin Honoraria Speaking and teaching; Biomarin Consulting fee Consulting

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

David Flannery, MD, FAAP, FACMG, Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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