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Related Experiment Videos

Plasma exchange for Refsum's disease.

F B Gibberd1

  • 1Department of Neurology, Westminster Hospital, London, U.K.

Transfusion Science
|December 9, 1992
PubMed
Summary
This summary is machine-generated.

Plasma exchange effectively treats Refsum's disease by lowering phytanic acid levels. This treatment is recommended for patients experiencing worsening symptoms or when dietary changes are insufficient.

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Area of Science:

  • Neurology
  • Metabolic Disorders
  • Medical Treatments

Background:

  • Refsum's disease is a rare genetic disorder characterized by the accumulation of phytanic acid.
  • Elevated phytanic acid levels can lead to severe neurological and systemic complications.

Purpose of the Study:

  • To evaluate the efficacy of plasma exchange in managing Refsum's disease.
  • To determine the clinical utility of plasma exchange in acute exacerbations and refractory cases.

Main Methods:

  • Plasma exchange was performed on five patients diagnosed with Refsum's disease.
  • Phytanic acid levels were monitored before and after treatment.

Main Results:

  • Plasma exchange successfully reduced plasma phytanic acid levels in all treated patients.

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  • A notable clinical improvement was observed in patients with acute illness following plasma exchange.

    • Conclusions:

    • Plasma exchange is a viable therapeutic option for Refsum's disease, particularly in cases of clinical deterioration.
    • It serves as an important intervention when dietary management alone is inadequate.