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Acute Hepatic Porphyria
Declaration of sponsorship Alnylam Pharmaceuticals

Clinical Manifestations

Declaration of sponsorship Alnylam Pharmaceuticals
Read time: 10 mins
Last updated:3rd Mar 2021
Published:3rd Mar 2021
  • Patients may present with various neurovisceral manifestations, such as autonomic neuropathy: abdominal pain, tachycardia, and hypertension; peripheral neuropathy: muscle weakness and paralysis; CNS manifestations: seizures and mental status changes; metabolic: hyponatremia; and red-brownish urine on exposure to light and air.2-9

Clinical Manifestations

  • Patients with acute hepatic porphyria (AHP) have variable symptoms, and presentations are often atypical (see figure).1

AHP Clinical Manifestations.png

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Acute Symptoms

  • A review of more than 100 patients with acute intermittent porphyria (AIP) found that the most commonly reported symptoms during acute attacks included abdominal pain, nausea/vomiting, weakness, and constipation (see figure).1

AIP - Most common signs and symptoms of an acute attack.png

  • Acute hepatic porphyria (AHP) predominantly affects females (89%) and Caucasians (85%), and usually first occurs between ages 20 and 30.1-3
  • Another important early sign of AHP is hyponatremia, which can trigger seizures, which occur in 5% to 30% of patients.4
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Constellation of Symptoms

Gastroenterologists should consider a diagnosis of acute hepatic porphyria (AHP) in any patient experiencing recurrent and prolonged episodes of severe, diffuse abdominal pain of unknown etiology with concurrent symptoms shown in the figure below. It's important to increase awareness and suspicion of some key symptoms of AHP:

  • Neurovisceral pain: severe abdominal pain which is usually lower but can occur anywhere. Many consider it generalised, but often extends into the lower back and thighs.1
  • PNS: Motor and sensory neuropathy – which can cause paresis, numbness, tingling, and pain.2,3
  • CNS: Seizures, mental status changes, psychosis, insomnia, and anxiety.2,4
  • ANS: During an acute attack, patients with AHP can often display tachycardia, hypertension, or arrhythmia; they can look anxious, often sweating, with evidence of sympathetic excess (almost like a pheochromocytoma), and hypertension. Only in the most severe cases are these striking; the commonly-encountered pattern is one of a mild rise in blood pressure and pulse rate which is seen to decrease once the attack comes under control.1,2,5
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