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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
[A family with a rare disease]
Joana Capelo1, Carlos Soares, Adelino Carragoso
1Serviço de Medicina Interna 1, Hospital de São Teotónio, Viseu.
Acta Medica Portuguesa
|July 27, 2010
Summary
Fabry disease (FD), a rare genetic disorder, causes progressive organ damage. Early diagnosis and family screening are crucial for timely recombinant enzyme replacement therapy (RERT) to improve patient outcomes.
Area of Science:
- Genetics
- Lysosomal Storage Disorders
- Rare Diseases
Background:
- Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-Galactosidase A gene.
- Enzyme substrate accumulation leads to progressive, multisystemic damage, impacting organs like the kidneys, heart, and brain.
- Recombinant enzyme replacement therapy (RERT) offers a therapeutic option to manage FD complications.
Observation:
- A 50-year-old male presented with a history of bone pain, coarse facies, angiokeratomas, anemia, renal failure, and cardiac and neurological complications.
- FD diagnosis was confirmed post-mortem following bacterial endocarditis.
- Family screening identified an affected brother receiving RERT for symptoms including acroparesthesia, bradycardia, and proteinuria.
Findings:
- The index case's severe, multisystemic manifestations highlight the progressive nature of untreated Fabry disease.
- Family screening demonstrated the utility of identifying affected relatives for early intervention.
- The brother's response to RERT underscores its potential to alter disease progression.
Implications:
- This case emphasizes the critical need for early diagnosis of Fabry disease to initiate timely treatment.
- Systematic family screening is essential for identifying at-risk individuals and preventing severe complications.
- Proactive management through RERT can potentially alter the natural history of Fabry disease, improving long-term prognosis.
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