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.
ACOG Practice Bulletin 218: Chronic Pelvic Pain
Adenomyosis: A Clinical Review of a Challenging Gynecologic Condition (Struble et al. J Minim Invasive Gynecol, 2016)
Diagnosing adenomyosis: an integrated clinical and imaging approach (Chapron et al. Hum Reprod Update, 2020)
ACR Appropriateness Criteria: Acute Nonlocalized Abdominal Pain
Relevance of the Endoscopic Evaluation in the Diagnosis of Bladder Pain Syndrome/Interstitial Cystitis (Morlacco et al. Urology, 2020)
Evidence-Based Medicine Approach to Abdominal Pain (Natesan et al. Emerg Med Clin North Am, 2016)
ACOG Practice Bulletin No. 114: Management of Endometriosis
ASRM: Treatment of Pelvic Pain Associated with Endometriosis: A Committee Opinion
Diagnosis and Treatment of Interstitial Cystitis/Bladder Pain Syndrome: AUA Guideline Amendment (Hanno et al. J. Urol, 2015)
Common Questions About the Evaluation of Acute Pelvic Pain (Bhavsar et al. Am Fam Physician, 2016)
Myofascial Pelvic Pain and Related Disorders (Bonder et al. Phys Med Rehabil Clin N Am, 2017)
Pelvic floor physical therapy in the treatment of pelvic floor dysfunction in women (Wallace et al. Current Opinion in Obstetrics and Gynecology, 2019)
Acute Pelvic Pain (Dewey and Wittrock. Emerg Med Clin North Am, 2019)
Imaging of Acute Pelvic Pain: Nonpregnant (Olpin and Strachowski. Radiol Clin North Am, 2020)
Rare Diseases Clinical Research Network: The Acute Porphyrias
NORD: Acute Intermittent Porphyria
Pathogenesis and Clinical Features of the Acute Hepatic Porphyrias (Bonkovsky et al. Mol Genet Metab, 2019)
Acute Hepatic Porphyrias: Review and Recent Progress (Wang et al. Hepatol Commun, 2018)
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks (Gouya et al. Hepatology, 2020)
European Porphyria Network (EPNET)
American Porphyria Foundation: Drug Database
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