Acute Porphyria Symptoms: A Comprehensive Overview

Acute porphyrias (AIP, VP, HCP, ADP) are rare metabolic disorders causing neurovisceral attacks. Symptoms are often nonspecific, leading to diagnostic delays.

Abdominal Symptoms

• Severe, poorly localized abdominal pain (often the hallmark)
• Nausea, vomiting
• Constipation or diarrhea
• Ileus

Neurological Symptoms

• Peripheral neuropathy (pain, paresthesia, weakness—often motor-predominant)
• Muscle weakness, progressing to paralysis (can mimic Guillain-Barré)
• Seizures
• Autonomic instability: tachycardia, hypertension, sweating

Psychiatric Symptoms

• Anxiety, agitation
• Depression
• Insomnia
• Confusion, hallucinations, delirium

Other Features

• Dark/reddish urine (porphobilinogen oxidation)
• Hyponatremia (SIADH)
• Weight loss

Triggers

Certain drugs (barbiturates, sulfonamides, rifampin), fasting, hormonal changes, stress, alcohol, infections.

Diagnosis

Elevated urinary PBG and ALA during attacks. Genetic testing confirms type.

Management

IV hemin, glucose loading, avoid triggers, symptomatic care.