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Hereditary hepatic porphyrias in Finland
Acta Medica Scandinavica
|January 1, 1976
Summary
This study investigated hereditary hepatic porphyrias in Finland, finding a prevalence of 3.4 per 100,000. It details patient numbers for acute intermittent porphyria (AIP) and variegate porphyria (VP), noting symptom similarities to global cases.
Area of Science:
- Medical Genetics
- Biochemistry
- Epidemiology
Background:
- Hepatic porphyrias, including acute intermittent porphyria (AIP) and variegate porphyria (VP), are rare genetic disorders.
- Understanding their prevalence and clinical presentation is crucial for diagnosis and management.
Purpose of the Study:
- To determine the occurrence and prevalence of AIP and VP in Finland.
- To characterize the clinical features and precipitating factors in Finnish patients.
- To compare findings with international data.
Main Methods:
- Retrospective analysis of patient data over a 9-year period.
- Identification of AIP and VP cases through medical records.
- Clinical assessment of symptoms, precipitating factors, and skin manifestations.
Main Results:
- 107 AIP and 45 VP patients identified over 9 years.
- Prevalence of hereditary hepatic porphyrias estimated at 3.4 per 100,000 inhabitants.
- Clinical symptoms and biochemical profiles align with previously reported international data.
- 50% of VP patients exhibited skin fragility and abnormal reactions to artificial UV light, but not sunlight sensitivity.
Conclusions:
- The prevalence of hepatic porphyrias in Finland is comparable to other regions.
- Finnish VP patients show some distinct skin symptom profiles compared to South African counterparts.
- Further research into genetic and environmental factors influencing phenotypic expression is warranted.