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[Periodic disease (familial paroxysmal polyseritis). 52 cases]
Revue Du Rhumatisme Et Des Maladies Osteo-Articulaires
|April 1, 1976
Summary
Periodic disease, primarily affecting young males in specific communities, typically presents with benign joint manifestations. Amyloidosis is rare, and genetic factors suggest autosomal dominant inheritance with incomplete penetrance.
Area of Science:
- Rheumatology
- Genetics
- Internal Medicine
Background:
- Periodic disease is a rare autoinflammatory disorder.
- Understanding its epidemiology and clinical course is crucial for diagnosis and management.
Purpose of the Study:
- To define the epidemiological and clinical characteristics of periodic disease.
- To investigate the genetic basis and long-term prognosis of the condition.
Main Methods:
- Analysis of patients meeting well-defined diagnostic criteria for periodic disease.
- Detailed clinical evaluation including joint manifestations and systemic involvement.
- Genetic analysis to determine inheritance patterns.
Main Results:
- Periodic disease predominantly affects males, with onset before age 20 in 80% of cases.
- High prevalence in Armenian and Shiite communities.
- Benign evolution in most cases; amyloidosis in 8%, joint manifestations in 48% (arthralgia, arthritis).
- Autosomal dominant inheritance with incomplete penetrance is the likely genetic hypothesis.
Conclusions:
- Periodic disease is a distinct entity with specific demographic and clinical features.
- The disease course is generally benign, with a low risk of amyloidosis.
- Genetic factors play a significant role, suggesting a heritable disorder.