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Fabry disease: raising awareness of the disease among physicians

Francesca Carubbi1, Lisa Bonilauri

  • 1Department of Medicine, Endocrinology, Metabolism and Geriatrics, University of Modena and Reggio Emilia, NOSE U.O. Medicina ad indirizzo metabolico-nutrizionistico, Via Giardini 1355, 41126, Modena, MO, Italy. carubbi@unimore.it

Internal and Emergency Medicine
|October 18, 2012
PubMed

Insights

Fabry disease is an X-linked inherited lysosomal disorder caused by alpha-galactosidase A deficiency. Early diagnosis and enzyme replacement therapy can manage symptoms and prevent severe complications.

Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Metabolic diseases

Background:

  • Fabry disease is an X-linked inherited lysosomal disorder.
  • It results from deficient alpha-galactosidase A activity, leading to glycolipid accumulation.
  • This accumulation affects multiple organ systems, including the kidneys, heart, and nervous system.

Purpose of the Study:

  • To raise awareness of Fabry disease signs and symptoms.
  • To summarize the effects of current treatments.
  • To highlight the importance of early diagnosis and intervention.

Main Methods:

  • This is a literature review and overview.
  • Key findings from existing studies on Fabry disease were synthesized.
  • Information on clinical manifestations and therapeutic approaches was compiled.

Main Results:

  • Fabry disease presents with diverse symptoms like renal and cardiac issues, pain, and neurological complications.
  • Both males and females can be severely affected, with potential premature death.
  • Enzyme replacement therapy shows promise in stabilizing or slowing disease progression.

Conclusions:

  • Increased knowledge of Fabry disease is crucial for timely diagnosis.
  • Early therapeutic interventions, such as enzyme replacement therapy, can prevent severe disease progression and complications.
  • Awareness of Fabry disease's signs and symptoms is vital for effective patient management.

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