Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations.

Background: Acute Hepatic Porphyria is a group of four rare genetic but treatable diseases that often go undiagnosed due to its non-specific symptoms, under-recognition of the condition by clinicians, and the lack of access to specialists and appropriate testing. This case-control study investigates the phenotypic and demographic patterns in Acute Hepatic Porphyria (AHP) patients at a tertiary care center (University of California Los Angeles) to update recommendations for recognition and diagnosis of this disease in our community. Method: A retrospective chart analysis was conducted on 45 patients who were evaluated for AHP, Electronic Medical Record (EMR) data was collected and analyzed to investigate clinical differences and correlations. Results: 27 patients tested positive for AHP through urinary metabolites and confirmatory genetic testing and 18 patients tested negative; of those, 16 patients received a definite alternative diagnosis. Hashimoto's, T1DM (Type 1 Diabetes Mellitus), Fibromyalgia and cannabinoid use with cyclic vomiting syndrome were negatively correlated with AHP, while 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. Conclusions: Patients with a history of OBGYN disorders and psychiatric disorders may be at increased risk of having AHP, yet there is a lack of involvement of these specialties in the diagnosis and care of AHP, in addition to a lack of studies investigating AHP in non-white populations potentially leading to reduced recognition of AHP.