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PORPHYRIA

Nervous System Diseases, Skin Conditions / By

PORPHYRIA

Porphyria describes a group of disorders characterized by the build-up of porphyrin in the body, negatively affecting the skin and nervous system.

  • Porphyrins are the main precursors of heme – the body requires porphyrins to make heme
  • All forms of porphyria slow down the production of heme, an iron-containing pigment that is vital for all body organs
  • Heme makes up part of the hemoglobin in the blood which carries oxygen to body tissues and gives red blood cells their color
  • Heme is produced in the liver and bone marrow. The production of heme involves 8 different enzymes
  • In porphyria, people are unable to fully convert porphyrin to heme because the body does not have enough of some of these enzymes. This result in the buildup of porphyrin in tissues and blood, causing problems in the liver, skin, and the nervous system
  • There are two categories of porphyria: acute porphyria primarily affecting the nervous system causing damage to the nerve cells, and cutaneous porphyria primarily affecting the skin with typically no damage to nerve cells.
  • The specific names of some of the subsets of porphyria are aminolevulinate-dehydratase deficiency porphyria (ALADP), acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), porphyria cutanea tarda (PCT), harderoporphyria, erythropoietic protoporphyria(EPP)
  • The most common form of acute porphyria is acute intermittent porphyria (AIP), while the most common form of cutaneous porphyria is porphyria cutanea tarda (PCT)

CAUSES

Porphyria may be inherited or acquired. Most forms of porphyria are inherited.

In the inherited form, the defective gene may be inherited in an autosomal dominant pattern (from one parent) or an autosomal recessive pattern (from both parents).

The acquired form may be triggered by excessive alcohol use, smoking, estrogen medication, or liver disease. When exposed to triggers, the body’s demand for heme production increases and may set in motion a process that causes the buildup of porphyrins.

 

SYMPTOMS

Symptoms of acute porphyria include:

  • Chest pain
  • Severe abdominal pain
  • Nausea and vomiting
  • Constipation or diarrhea
  • Red or brown urine
  • Breathing problems
  • Urination problems
  • High blood pressure
  • Seizures
  • Rapid or irregular heartbeat
  • Muscle pain, numbness, weakness or paralysis
  • Behavioral changes, such as anxiety, hallucination, paranoia, or disorientation

Symptoms of cutaneous porphyria may result from sun exposure and may include:

  • Sudden painful skin redness and swelling
  • Burning pain caused by sensitivity to the sun and sometimes artificial light
  • Itching
  • Excessive hair growth in affected area
  • Red or brown urine
  • Blisters on the hands, arms, and face
  • Fragile thin skin with changes in skin color

DIAGNOSIS AND TREATMENT

To make a diagnosis, the doctor will order blood, urine, or stool sample. Porphyria may be tricky to diagnose because the symptoms associated with the condition are similar to those of other diseases.

In some cases, the doctor may use imaging tests, such as CT scan or X-rays to make a diagnosis.

Early diagnosis is important for handling the condition and avoiding any complications.

TREATMENT

No cure exists for the condition, but it is possible to manage symptoms.

Effective management depends on the type you have.

For acute porphyria, options include:

  • Prescription or over-the-counter drugs for pain, nausea, and vomiting
  • Oral or intravenous injection of glucose
  • Injection of hemin to reduce the production of porphyrin

For cutaneous porphyria, options include:

  • Removal of blood to reduce the levels of iron
  • Medications that reduce sun sensitivity
  • Medications that absorb excess porphyrins

To reduce the risk of an attack, it is important to understand certain environmental triggers. Triggers may vary from person to person and it may take time before you discover your triggers for an attack. Triggers may include:

  • Stress
  • Certain medications or antibiotics
  • Use of recreational drugs
  • Dieting or fasting
  • Heavy consumption of alcohol
  • Excessive exposure to sunlight
  • Menstrual hormones
  • Excess iron levels
  • Infections or other illnesses