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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Hereditary transthyretin amyloidosis: a case report
Angela Lee1, Nowell M Fine2, Vera Bril3
1Division of Neurology, Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Hereditary transthyretin amyloidosis presents with diverse symptoms, delaying diagnosis. Early recognition is crucial for effective treatment with new gene-silencing therapies, improving patient outcomes.
Area of Science:
- Genetics
- Neurology
- Cardiology
Background:
- Hereditary transthyretin amyloidosis (hATTR) is a rare, multisystem disorder.
- Caused by transthyretin gene mutations, it leads to neuropathy, cardiomyopathy, and other organ involvement.
- Delayed diagnosis is common due to varied symptoms and multiple specialist consultations.
Observation:
- A 64-year-old East Asian man presented with diarrhea, anemia, and neuropathy.
- Extensive investigations failed to identify the cause.
- Progressive neurological symptoms and hematologic changes prompted re-evaluation.
Findings:
- Diagnosis of hATTR was confirmed via genetic testing and gastrointestinal biopsy review.
- The patient received gene-silencing therapy.
- Significant improvement in neuropathy symptoms and stabilization observed after 8 months.
Implications:
- hATTR diagnosis is challenging due to nonspecific, multisystem manifestations.
- Early diagnosis is critical, especially with new therapies available.
- Timely intervention can prevent irreversible organ damage.
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