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Acute Intermittent Porphyria (AIP)

An autosomal dominant disorder of heme biosynthesis presenting with neurovisceral attacks.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

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What is Acute Intermittent Porphyria (AIP)?

Acute intermittent porphyria (AIP) results from a heterozygous mutation in the HMBS gene that reduces porphobilinogen deaminase activity by about 50%, leading to accumulation of porphobilinogen (PBG) and delta-aminolevulinic acid (ALA) during attacks.

Most carriers remain latent throughout life; clinical attacks occur in only 10–20%, typically in women of reproductive age. Attacks are precipitated by cytochrome P450-inducing drugs, fasting, alcohol, infection, stress, and hormonal fluctuations.

Diagnosis relies on demonstrating elevated urinary PBG (the most sensitive and specific test), urine ALA, total porphyrins during attack, and confirmation by HMBS gene sequencing.

Symptoms

Severe, poorly localized abdominal pain (often without peritoneal signs)
Nausea, vomiting, constipation
Tachycardia and labile hypertension (autonomic dysregulation)
Peripheral motor neuropathy, weakness, areflexia
Anxiety, confusion, hallucinations, seizures
Hyponatremia (SIADH), red-brown urine on standing

Risk Factors

HMBS gene mutation (autosomal dominant inheritance)
Female sex, especially perimenstrual phase
Use of porphyrinogenic drugs (rifampin, sulfonamides, barbiturates, phenytoin, progesterone)
Fasting or strict low-carbohydrate diets
Alcohol consumption, smoking, infection, surgical stress

When to See a Doctor?

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

  • Unexplained recurrent severe abdominal pain with normal imaging
  • Acute motor neuropathy after a precipitating drug or fast
  • Family history of porphyria with new neurovisceral symptoms
  • Dark/red urine that darkens further on light exposure

Treatment Methods

01
Stop all porphyrinogenic drugs and treat triggers (infection, dehydration)
02
Intravenous heme arginate (3–4 mg/kg/day for 4 days) — gold standard
03
High-dose carbohydrate loading (≥300 g/day glucose) when heme is unavailable
04
Givosiran (RNAi against ALAS1) for prevention of recurrent attacks
05
Symptomatic care: safe analgesia (opioids), beta-blockers for tachycardia, correct hyponatremia carefully
06
Genetic counseling for family screening

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.