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Hereditary hepatic porphyrias in Finland
Insights
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.
Abstract:
The occurrence of hepatic porphyrias--acute intermittent porphyria (AIP) and variegate porphyria (VP)--in Finland has been studied. During a period of 9 years 107 patients with AIP and 45 patients with VP were found. The prevalence of hereditary hepatic porphyrias was calculated to be 3.4 per 100 000 inhabitants. The patients belonged to 42 different families. Eighty-nine patients (59%) had had acute attacks, whereas 63 were symptomless latent cases. Precipitating factors, symptoms and excretion of porphyrins and their precursors did not significantly differ from what has been reported earlier from other parts of the world. A slight fragility of the skin on the back of the hands was noted in some 50% of VP patients. Abnormal sensitivity to sunlight could not be seen in a single case. However, about 50% of patients with VP showed an abnormal reaction when irradiated with artificial ultraviolet light. The difference in the skin symptoms in South African and Finnish VP patients is discussed.