Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in
atypical patient populations
#MMPMID41345676
Schmolly K
; Rudrapatna V
; Beaven S
Orphanet J Rare Dis
2025[Oct]; 20
(1
): 539
PMID41345676
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BACKGROUND: Acute Hepatic Porphyria (AHP) 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 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, Type 1 Diabetes Mellitus (T1DM), Fibromyalgia and cannabinoid use
with cyclic vomiting syndrome were negatively correlated with AHP, while
psychiatric disorders and obstetrics and gynecology (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.
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