Recognizing and Diagnosing Acute Hepatic Porphyria
Author Information
Author(s): Schmolly Katharina, Rudrapatna Vivek, Beaven Simon
Primary Institution: University of California Los Angeles
Hypothesis
The study investigates the phenotypic and demographic patterns in Acute Hepatic Porphyria patients to update recommendations for recognition and diagnosis.
Conclusion
Patients with a history of OBGYN and psychiatric disorders may be at increased risk of having Acute Hepatic Porphyria.
Supporting Evidence
- 27 patients tested positive for AHP through urinary metabolites and confirmatory genetic testing.
- 18 patients tested negative, with 16 receiving a definite alternative diagnosis.
- Hashimoto’s, Type 1 Diabetes Mellitus, Fibromyalgia, and cannabinoid use were negatively correlated with AHP.
- Psychiatric disorders and OBGYN disorders were positively correlated with AHP.
- The highest rate of diagnosis resulted from a combination of genetic and biochemical testing.
- Testing outside of an acute attack was not associated with a positive diagnosis.
Takeaway
Some people with certain health issues might have a rare disease called Acute Hepatic Porphyria, but doctors often miss it.
Methodology
A retrospective chart analysis was conducted on 45 patients evaluated for AHP, using Electronic Medical Record data.
Potential Biases
Potential under-recognition of AHP due to lack of involvement from certain specialties.
Limitations
There is a lack of studies investigating AHP in non-white populations.
Participant Demographics
Patients evaluated at a tertiary care center, with a focus on demographic patterns.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website