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Acute hepatic porphyrias: Current diagnosis & management
1The University of Texas Medical Branch, Department of Preventive Medicine and Community Health and Internal Medicine, 301 University Boulevard, Galveston, TX 77555-1109, United States of America.
Molecular Genetics and Metabolism
|July 18, 2019
Summary
Acute hepatic porphyrias result from enzyme mutations, leading to toxic intermediate accumulation. Early diagnosis via urinary porphobilinogen and DNA testing is crucial for effective management and preventing long-term complications.
Area of Science:
- Biochemistry
- Genetics
- Internal Medicine
Background:
- Acute hepatic porphyrias (AHPs) are rare genetic disorders.
- Caused by mutations in heme biosynthetic pathway enzymes.
- Disease activity involves accumulation of toxic pathway intermediates.
Purpose of the Study:
- To outline the diagnostic approaches for AHPs.
- To describe current and developing treatment strategies.
- To highlight long-term complications and management.
Main Methods:
- Biochemical screening, including urinary porphobilinogen measurement.
- Enzyme activity assays and DNA testing for diagnosis and familial screening.
- Clinical assessment of symptoms and disease activity.
Main Results:
- Elevated urinary porphobilinogen is a key diagnostic marker.
- DNA testing confirms specific mutations and facilitates family screening.
- Intravenous hemin is the primary treatment for acute attacks.
Conclusions:
- Timely diagnosis of AHPs is essential due to nonspecific symptoms.
- Management focuses on trigger avoidance and acute attack treatment.
- Long-term complications necessitate ongoing monitoring and research into novel therapies.
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