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Acute Hepatic Porphyria
Declaration of sponsorship Alnylam Pharmaceuticals

Role of Gastroenterologists

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

Gastroenterologists’ Role

  • Patients with acute hepatic porphyria (AHP) are often referred to gastroenterologists with severe, poorly localised, and recurrent abdominal pain of unknown origin, many of whom have been misdiagnosed for many years.1-3
  • By far, the most common presenting symptom of AHP is severe abdominal pain that is neuropathic in nature and is not accompanied by peritoneal signs such as fever or leukocytosis.3-5
  • Abdominal pain continues to pose diagnostic challenges. In many cases, the differential diagnosis is wide, ranging from benign to life-threatening. Causes may include medical, surgical, intra abdominal and extra abdominal conditions.6
  • A differential diagnosis of AHP should be considered for these patients who are referred as a result of frequent visits to a primary care physician or other specialist and/or hospital with unexplained, chronic, or recurring bouts of abdominal pain.4,5,7
    • Patients may also experience other gastrointestinal (GI) symptoms, such as nausea or vomiting.3
  • Other symptoms may include neurological, psychological, and cardiovascular symptoms; hyponatremia; and red-brownish urine on exposure to light and air.8-11
  • As a result of these nonspecific clinical features and unfamiliarity with the disease, many patients are misdiagnosed or undiagnosed for more than a decade from onset of symptoms.1-4,7,9
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Signs and Symptoms of Acute Hepatic Porphyria (AHP)

  • Signs and symptoms of AHP often mimic many other more common diseases (see figure), so these patients often repeatedly present with severe abdominal pain and they typically go through the usual evaluations for more common diseases such as acute abdomen, infections, inflammatory bowel disease, acute cholecystitis, appendicitis, and pancreatitis.1-5
  • Note that there are no pathognomonic signs or symptoms, and atypical presentations are common.6-8
  • Delays in diagnosis can result in chronic complications that can be very debilitating for patients, including irreversible damage, pain and suffering, and disability.9,10

AHP signs and symptoms.png

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