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Acute Hepatic Porphyria
Declaration of sponsorship Alnylam Pharmaceuticals

Diagnostic Challenges

Declaration of sponsorship Alnylam Pharmaceuticals
Read time: 10 mins
Last updated:3rd Mar 2021
Published:3rd Mar 2021

Diagnostic Challenges

  • Missed or delayed diagnosis often occurs for a number of reasons, including1,2
  • General or nonspecific nature of symptoms (e.g., abdominal pain, constipation, diarrhoea, and neuropathies), which can be caused by many other gastrointestinal (GI) disorders1,3
  • Variable symptoms and atypical presentations, with no pathognomonic signs and symptoms4-6
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Importance of Diagnosis

  • The accumulation of porphyrin and porphyrin precursors involved in making heme is considered toxic to the nervous system.1
  • Patients with acute hepatic porphyria (AHP) can, therefore, experience painful, incapacitating attacks that involve the nervous system.2
  • These patients can suffer from acute and/or recurrent, debilitating attacks.2,3
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  • Many patients actually have multiple surgeries before the diagnosis is established, including having their gallbladder or appendix removed as well as unnecessary treatments (e.g., opioid analgesics for severe pain may give rise to opioid dependence).2-6
  • Contrarily, severe pain may be undertreated given the stigma of opioid narcotics, which can hamper effective care.7
  • Patients may also be mistaken as “drug seekers” due to the frequent need for narcotics to manage their severe pain.
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