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Rami Nabil Al-Chaer1,2, Mette Mogensen1,3, Ulla Feldt-Rasmussen2,3

  • 1Dermato-venerologisk Afdeling, Københavns Universitetshospital - Bispebjerg og Frederiksberg Hospital.

Ugeskrift for Laeger
|November 13, 2024
PubMed
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Fabry disease (FD), a genetic disorder, causes harmful buildup of lipids. Early diagnosis through genetic testing is crucial for patients presenting with angiokeratomas, enabling effective treatment.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Dermatology

Background:

  • Fabry disease (FD) is an X-linked lysosomal storage disorder.
  • It results from deficient activity of the enzyme alpha-galactosidase A.
  • This deficiency leads to the accumulation of glycosphingolipids within lysosomes.

Observation:

  • A 35-year-old male patient presented with numerous angiokeratomas.
  • The lesions were predominantly located in the characteristic "bathing-trunk" distribution.
  • Despite multiple consultations across various medical specialties, FD was not initially suspected.

Findings:

  • Enzyme replacement therapy (ERT) was initiated for the patient.
  • ERT effectively halted the progression of symptoms associated with Fabry disease.

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  • The case highlights a diagnostic delay in recognizing FD.

    • Implications:

    • Patients with unexplained angiokeratomas warrant consideration for Fabry disease.
    • Further investigation, including genetic examination, is recommended for suspected FD cases.
    • Timely diagnosis and treatment, such as ERT, can prevent disease advancement.