eMedicine Specialties > Dermatology > Metabolic Diseases

Angiokeratoma Corporis Diffusum (Fabry Syndrome): Follow-up

Author: Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Private Practice
Coauthor(s): Anusuya Mokashi, MS, MD, Radiology Resident, Staten Island University Hospital; Arnold R Oppenheim, MD, Assistant Professor, Department of Internal Medicine, Division of Dermatology, Eastern Virginia School of Medicine
Contributor Information and Disclosures

Updated: Dec 21, 2009

Follow-up

Further Inpatient Care

  • Inpatient care depends on the involved organ system.

Further Outpatient Care

  • Many patients with Fabry disease require renal dialysis.
  • Fabry disease is an important risk factor for stroke; thus, this should be accounted for when providing outpatient care.
  • Edema (eg, lymphedema) can be treated with compression stockings.
  • Dry corneas can be treated with artificial tears.

Deterrence/Prevention

  • Screening for Fabry disease using analysis of spots of whole blood fails to identify one third of female carriers.30
  • With regard to urinary testing, the Fabry hemizygotes have higher concentrations of the substrate for the deficient enzyme, ceramide trihexoside, lactosylceramide, and ceramide in combination with decreased concentrations of glucosylceramide and sphingomyelin. Ratios of these analytes enhanced distinction between the control and Fabry groups. The Fabry heterozygotes had levels between the Fabry hemizygotes and the control group.31

Complications

  • Renal: Azotemia and progressive proteinuria can lead to frank uremia.
  • Neurologic: Pain from Fabry disease can be debilitating. Other neurologic problems include paresis, seizures, hemiplegia, labyrinthine disorders, aphasia, tremor, sensory disturbances, and loss of consciousness.
  • Cardiac 
    • Fatal cardiac complications can result from cardiac hypertrophy, ventricular tachycardias, and dilated cardiomyopathy.
    • A number of other cardiac complications may occur, including mitral regurgitation, mitral stenosis, left ventricular hypertrophy, congestive heart failure, and hypertension.
    • Arrhythmias occur commonly in older patients with Fabry disease. Pacemaker implantation is often required, especially because of the possibility of sudden cardiac death associated with Fabry disease.
  • Other: Wheezing and dyspnea occur as small vessels in the lungs are affected. Fairly marked lymphedema and varicose veins result from the disease's effect on small blood vessels of the legs.

Prognosis

  • Few afflicted men live to be older than 50 years. A male cardiac variant exists in which patients have enough alpha-galactosidase to stave off the renal, neurologic, and skin changes typical of Fabry disease. Patients develop cardiac manifestations, especially cardiomyopathy.
  • Heterozygous women have a longer lifespan with the disease because if they develop renal and cardiac symptoms, they do so later in life.

Patient Education

  • Genetic counseling is urged. Both affected men and heterozygous women can transmit the gene. Sons of affected men are free of the gene, but daughters can pass the gene to future generations. In the offspring of heterozygous women, 50% of male children may have the disease and 50% of female children may become carriers.

Miscellaneous

Medicolegal Pitfalls

  • Failure to make the correct diagnosis because early symptoms may result in a misdiagnosis of rheumatic fever, neurosis, erythromelalgia, or collagen-vascular disease
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.



More on Angiokeratoma Corporis Diffusum (Fabry Syndrome)

Overview: Angiokeratoma Corporis Diffusum (Fabry Syndrome)
Differential Diagnoses & Workup: Angiokeratoma Corporis Diffusum (Fabry Syndrome)
Treatment & Medication: Angiokeratoma Corporis Diffusum (Fabry Syndrome)
Follow-up: Angiokeratoma Corporis Diffusum (Fabry Syndrome)
References
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Further Reading

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Keywords

angiokeratoma corporis diffusum, Fabry syndrome, Fabry disease, Fabry-Anderson disease, FD, Fabry's disease, Anderson-Fabry disease, angiokeratoma, AKCD, angiokeratoma corporis diffusum

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Contributor Information and Disclosures

Author

Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Private Practice
Noah S Scheinfeld, MD, JD, FAAD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Optigenex Consulting fee Independent contractor

Coauthor(s)

Anusuya Mokashi, MS, MD, Radiology Resident, Staten Island University Hospital
Disclosure: Nothing to disclose.

Arnold R Oppenheim, MD, Assistant Professor, Department of Internal Medicine, Division of Dermatology, Eastern Virginia School of Medicine
Arnold R Oppenheim, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Clinical Pathology
Disclosure: Nothing to disclose.

Medical Editor

Timothy McCalmont, MD, Director, UCSF Dermatopathology Service, Professor of Clinical Pathology and Dermatology, Departments of Pathology and Dermatology, University of California at San Francisco; Editor-in-Chief, Journal of Cutaneous Pathology
Timothy McCalmont, MD is a member of the following medical societies: Alpha Omega Alpha, American Medical Association, American Society of Dermatopathology, California Medical Association, College of American Pathologists, and United States and Canadian Academy of Pathology
Disclosure: Apsara Consulting fee Independent contractor

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Rosalie Elenitsas, MD, Herman Beerman Associate Professor of Dermatology, University of Pennsylvania School of Medicine; Director, Penn Cutaneous Pathology Services, Department of Dermatology, University of Pennsylvania Health System
Rosalie Elenitsas, MD is a member of the following medical societies: American Academy of Dermatology and American Society of Dermatopathology
Disclosure: Nothing to disclose.

CME Editor

Joel M Gelfand, MD, MSCE, Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania
Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology
Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds Investigator; Genentech Grant/research funds investigator; Centocor Consulting fee Consulting; Abbott Grant/research funds investigator; Abbott Consulting fee Consulting; Novartis  investigator; Pfizer Grant/research funds investigator; Celgene Consulting fee DMC Chair; NIAMS and NHLBI Grant/research funds investigator

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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