Published: 18 Jun 2025

ICD9: 277.1      ICD10: E80.20      ICD11: 5C58.1

Porphyria is a group of rare genetic blood disorders that affect the body's ability to produce heme.
Heme is a crucial component of hemoglobin, the protein in red blood cells that carries oxygen. It's also essential for other proteins in the body, including enzymes involved in liver function.

Here's a breakdown of key aspects:

What goes wrong? In porphyria, specific enzymes needed to make heme are deficient. This leads to a buildup of porphyrins and porphyrin precursors in the body. These substances can be toxic and cause a variety of symptoms.

Types of Porphyria: There are several different types of porphyria, classified based on the specific enzyme deficiency and the primary site of accumulation of porphyrins. They are broadly grouped into:

Acute Porphyrias: These primarily affect the nervous system. Attacks can cause severe abdominal pain, neurological problems (muscle weakness, seizures, mental changes), and psychiatric disturbances. Acute porphyria attacks can be life-threatening.
Cutaneous Porphyrias: These primarily affect the skin, causing sensitivity to sunlight, blistering, and scarring.

Symptoms: Symptoms vary depending on the type of porphyria and can range from mild to severe. Common symptoms include:

Abdominal pain: Severe, often unexplained abdominal pain is a hallmark of acute attacks.
Neurological problems: Muscle weakness, paralysis, seizures, peripheral neuropathy (nerve damage in the hands and feet).
Psychiatric symptoms: Anxiety, confusion, hallucinations, personality changes.
Skin problems: Blistering, photosensitivity (sensitivity to sunlight), scarring, increased hair growth (hirsutism).
Red or brown urine: Due to the presence of excess porphyrins.

Causes: Porphyria is usually inherited, meaning it's passed down from parents to their children. However, some rare cases can be acquired. Certain environmental factors, such as certain medications, alcohol consumption, smoking, and infections, can trigger attacks in people who have a genetic predisposition.

Diagnosis: Diagnosis can be challenging because porphyria is rare and symptoms can mimic other conditions. Testing typically involves blood, urine, and stool samples to measure porphyrin levels. Genetic testing can also be used to identify specific gene mutations.

Treatment: Treatment depends on the type of porphyria and the severity of symptoms. Acute attacks are treated with intravenous hemin or glucose, which can help suppress the production of porphyrin precursors. Other treatments may include pain management, medications to control neurological or psychiatric symptoms, and phlebotomy (blood removal) for certain types of cutaneous porphyria. For cutaneous porphyrias, protection from sunlight is critical.

Famous Connection: Porphyria has been linked to historical figures like King George III, though this diagnosis has been debated.

In summary, porphyria is a group of rare genetic disorders affecting heme production, leading to a buildup of porphyrins and a variety of symptoms affecting the nervous system, skin, and other organs. Diagnosis and treatment are essential for managing the condition and preventing severe complications.