Note: Both endometriosis and adenomyosis may be detected on ultrasound, but can also exist in the setting of a negative scan | Both may respond to combined OCP, progesterone-only hormonal treatments, or GnRH agonists | Surgical evaluation for endometriosis may be undertaken for diagnosis and treatment
While AHP can be difficult to diagnose due to the non-specific symptoms and overlap with other more common conditions, clues are present in this case. For educational purposes, the patient in this case had numerous triggers and clues leading to porphyria, but not all may be present in all cases.
General Features That May Point to Porphyria
Note: The optimal time to test is during or shortly after an attack when ALA and PBG levels have spiked | ALA and PBG levels may fall when symptoms resolve
Physicians may consider consulting with an expert in porphyria (e.g. hematologists, hepatologists, or geneticists)
The educational materials, including the hypothetical case study, are sponsored by Alnylam Pharmaceuticals. They are not intended to replace a healthcare professional’s independent clinical judgment. The “Learn More Primary Sources” below are provided for reference. Alnylam Pharmaceuticals does not endorse the “Learn More” sites below and is not responsible for their content.
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