Angiokeratoma Corporis Diffusum (Fabry Syndrome) Treatment & Management

Updated: Feb 09, 2016
  • Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: William D James, MD  more...
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Treatment

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. [39]

  • 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. [40]

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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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Prevention

Screening for Fabry disease using analysis of spots of whole blood fails to identify one third of female carriers. [41]

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. [42]

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Long-Term Monitoring

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.

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