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[Recurrent bilateral pleurisy in an 80-year-old man]
I Herry1, F Schaison, A Martin
1Service de Médecine Interne, Hôpital Cochin, Paris.
Revue De Pneumologie Clinique
|June 15, 1999
Summary
This case highlights a rare presentation of periodic disease in an elderly patient, initially misdiagnosed as heart failure. Genetic testing revealed a homozygous mutation, underscoring its value in complex diagnoses.
Area of Science:
- Genetics
- Internal Medicine
- Rare Diseases
Background:
- Periodic disease is a rare autoinflammatory disorder.
- Diagnosis can be challenging due to varied presentations.
- Genetic testing is crucial for identifying specific mutations.
Observation:
- An 80-year-old male presented with recurrent pleurisy, fever, and inflammation, initially suspected as heart failure.
- Cardiac function was subnormal but without overt heart failure signs.
- Investigations revealed homozygous carrier status for a severe periodic disease mutation.
Findings:
- The patient's late-onset periodic disease and atypical symptoms were exceptional.
- Genetic analysis confirmed a severe mutation type.
- This case demonstrates the diagnostic utility of genetic testing in complex presentations.
Implications:
- Highlights the importance of considering rare genetic disorders in elderly patients with unclear symptoms.
- Emphasizes the role of genetic testing in diagnosing challenging cases of periodic disease.
- Suggests ongoing challenges in correlating genotype with phenotype in periodic disease.