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Acute Intermittent Porphyria (AIP)

Hepatic porphyria with attacks of abdominal pain and neurological features.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is Acute Intermittent Porphyria (AIP)?

AIP is caused by autosomal dominant mutations in the HMBS gene encoding porphobilinogen (PBG) deaminase, the third enzyme of the haem biosynthetic pathway.

The defect leads to accumulation of neurotoxic precursors aminolevulinic acid (ALA) and PBG when haem demand increases.

Penetrance is low (10-20%); only a minority of carriers develop symptomatic attacks, typically in females aged 18-45 years.

Symptoms

Severe diffuse abdominal pain disproportionate to physical findings (hallmark)
Nausea, vomiting, constipation and ileus
Autonomic features: tachycardia, hypertension, sweating, tremor
Peripheral neuropathy that can progress to flaccid paralysis (motor predominant, may resemble Guillain-Barré)
Neuropsychiatric features: anxiety, insomnia, agitation, confusion, psychosis, seizures
Hyponatraemia secondary to SIADH
Urine darkens on standing (classical sign)
No skin lesions in pure AIP (distinguishes from cutaneous porphyrias)

Risk Factors

Female sex and reproductive years (luteal phase of menstrual cycle as trigger)
Drugs that induce hepatic CYP enzymes: barbiturates, sulfonamides, phenytoin, carbamazepine, valproate, oestrogens
Fasting and crash dieting
Alcohol consumption
Infection, surgery, stress
Family history of porphyria

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Acute attack with severe abdominal pain, autonomic features and confusion is a medical emergency
  • Progressive weakness or limb paralysis suggests neurological involvement and needs urgent inpatient care
  • Patients with known AIP must seek immediate care for any new attack, fever or upcoming surgery
  • Family members of patients with confirmed HMBS mutation need genetic counselling and screening
  • Recurrent attacks require referral to a specialist porphyria centre

Treatment Methods

01
Remove the precipitating cause and treat intercurrent illness
02
Analgesia: opioids are safe (morphine, fentanyl); avoid NSAIDs that may worsen renal function
03
Intravenous human haemin (heme arginate) 3-4 mg/kg daily for 4 days (specific therapy, start early)
04
Glucose loading 300-500 g/day intravenously when haemin is delayed (suppresses ALA-synthase)
05
Manage hyponatraemia, hypertension, tachycardia and seizures (use safe antiepileptics: gabapentin, levetiracetam)
06
Givosiran (RNAi) monthly subcutaneously for patients with 4 or more attacks per year
07
Long-term care: avoid unsafe drugs (consult drug-safety databases), nutritional support, family counselling, surveillance for hepatocellular carcinoma and chronic kidney disease

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.