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Updated: May 2, 2026

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Fabry disease: clinical and genotypic aspects of three cases in first degree relatives

Letícia Bueno Nunes da Silva1, Thais Cardoso de Mello Tucunduva Badiz2, Milvia Maria Simões e Silva Enokihara3

  • 1Universidade Federal de São Paulo, Escola Paulista de Medicina, Dermatology Department, Graduate course in clinical dermatology, São PauloSP, Brazil, MD, Dermatologist - Graduate course in clinical dermatology, Dermatology Department, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil.

Anais Brasileiros De Dermatologia
|March 15, 2014
PubMed

Insights

Fabry disease, a genetic disorder, is often diagnosed late. Early detection of angiokeratomas can lead to timely enzyme replacement therapy, improving patient outcomes.

Area of Science:

  • Genetics
  • Biochemistry
  • Rare Diseases

Background:

  • Fabry disease is an X-linked lysosomal storage disorder.
  • It results from a deficiency in the enzyme α-galactosidase A.
  • Late diagnosis is common, often associated with severe complications.

Observation:

  • Angiokeratomas are often the initial, yet underappreciated, manifestation.
  • A case report details a male teenager presenting with acroparesthesias and angiokeratomas.
  • Family history revealed similar symptoms in the mother and brother.

Findings:

  • Genetic analysis confirmed a shared mutation in the α-galactosidase A gene among the affected family members.
  • This mutation underlies the enzyme deficiency causing Fabry disease.
  • The findings highlight the heritability and genetic basis of the disease.

Implications:

  • Early identification of angiokeratomas is crucial for prompt Fabry disease diagnosis.
  • Enzyme replacement therapy can prevent severe renal, cardiovascular, and cerebral complications.
  • Timely intervention can significantly reduce morbidity and mortality associated with Fabry disease.

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