Angiokeratoma Corporis Diffusum (Fabry Syndrome) Treatment & Management

  • Author: Noah S Scheinfeld, MD, JD, FAAD; Chief Editor: William D James, MD   more...
 
Updated: Aug 2, 2011
 

Medical Care

As a multisystemic disease, angiokeratoma corporis diffusum requires treatment by a number of specialists. Treatment is intended to extend the lifespan of affected patients and make their lives more comfortable, especially in light of the often excruciating pain they experience. Significant clinical improvement and enhancement of quality of life have been achieved with enzyme replacement therapy (ERT), in particular at the early stages of Fabry disease, with positive benefits for the cardiac and renal systems and a decrease in pain.

Early detection of Fabry disease has made extending the lifespan and improving the quality of life possible for these patients. The administration of recombinant human alpha-galactosidase or agalsidase beta replacement therapy can reverse and delay cardiac, renal, and neural damage to patients with Fabry disease. It is not clear which enzyme therapy is superior and both therapies are helpful at enhancing health.

Future treatments of Fabry disease that seem promising include (1) substrate deprivation based on the inhibition of an earlier step in the synthesis of the accumulating glycosphingolipid and (2) gene therapy.

Note the following treatments broken down by specialty:

  • Dermatology: Carbon dioxide laser treatment can improve cosmetic appearance by removing angiokeratomas from the skin. Variable pulse width 532-nm Nd:YAG laser therapy, 578-nm copper vapor laser therapy, and flashlamp-pumped dye laser therapy can also be used to treat angiokeratomas. Hyperhidrosis can be treated with topical and systemic antiperspirant agents. Hypohidrosis or anhidrosis can be treated with moisturizers and topical applications of artificial lacrimal fluid and saliva.
  • Nephrology: Renal insufficiency, the most common cause of mortality, can be treated with hemodialysis or kidney transplantation. Renal transplantation may benefit patients because it supplies a source of the missing enzyme alpha-galactosidase A.
  • Neurology: Two antiseizure medications, diphenylhydantoin and carbamazepine, are the most helpful in alleviating the debilitating pain of neurologic involvement.
  • Pulmonology: Obstructive lung disease is a problem late in the disease process. Discourage patients from smoking.
  • Gene therapy: In recent years, nucleoside sequencing of the entire alpha-galactosidase A gene has enabled theoretical treatment using recombinant technology.
  • Replacement therapy: Occasionally, infusions of plasma or partially purified enzyme from healthy donors have produced promising results.
  • Politei suggested that statins might be helpful in the treatment of Fabry disease to help prevent stroke, owing to neuroprotective properties or pleiotropic effects.[27]
  • Cardiology: Imbriaco et al reported that twice-monthly continuous treatment with agalsidase beta at 1 mg/kg every 2 weeks significantly reduced left ventricular hypertrophy, improving overall heart performance and decreasing clinical symptoms in Fabry disease.[28]
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Surgical Care

Kidney transplantation often is beneficial. Kidney transplantation improves survival. In addition to restoring renal reserve, the transplanted kidney produces a portion of the lacking enzyme alpha-galactosidase.

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Consultations

Consultation with the following specialists may be necessary:

  • Nephrologist: Kidney failure is responsible for most fatalities associated with angiokeratoma corporis diffusum. A nephrologist can determine when renal dialysis and transplantation are indicated.
  • Neurologist: Patients describe the pain associated with nerve involvement of Fabry disease as excruciating. In addition, a number of CNS problems are associated with this condition.
  • Cardiologist: In addition to congestive heart failure and hypertension resulting from renal impairment, frequent primary dysfunction of the heart occurs.
  • Pulmonologist: As the lung vasculature becomes increasingly affected, obstructive pulmonary disease often develops.
  • Geneticist: Genetic counseling is helpful in this genetically transmitted disease.
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Diet

A low-salt, high-protein diet may be used to help stave off renal problems, peripheral edema, and congestive heart failure.

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Contributor Information and Disclosures
Author

Noah S Scheinfeld, MD, JD, FAAD  Assistant Clinical Professor, Department of Dermatology, Columbia University College of Physicians and Surgeons; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, and 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.

Specialty Editor Board

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

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

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.

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: Lippincott Williams Wilkins Royalty Textbook editor; DLA Piper Consulting fee Consulting

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

William D James, MD  Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System

William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

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