Porphyria: Symptoms, Causes and Treatment
Porphyria is a group of disorders characterized by the buildup of porphyrin in the body, negatively affecting the skin and nervous system. Porphyrins are the main precursors of heme (an iron-containing pigment that is vital for the body organs) which the body requires to make heme.
Porphyria slows down the production of heme. Heme makes up part of the hemoglobin in the blood which carries oxygen to body tissues and gives color to the red blood cells. It 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 results in the buildup of porphyrin in tissues and blood, causing damage to 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
- AminoLevulinic Acid Dehydratase-deficiency Porphyria (ALADP).
- Acute Intermittent Porphyria (AIP).
- Hereditary Coproporphyria (HCP).
- Porphyria Cutanea tarda (PCT).
- 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).
Symptoms of Porphyria
Symptoms of Acute Porphyria include
- Chest pain.
- Severe abdominal pain.
- Nausea and vomiting.
- Constipation or diarrhea.
- Breathing problems.
- Difficulty in urinating.
- High blood pressure.
- Rapid or irregular heartbeat.
- Muscle pain.
- Behavioral changes such as anxiety.
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.
- Excessive hair growth in affected areas.
- Red or brown urine.
- Blisters on the hands, arms and face.
- Fragile thin skin with changes in skin color.
Causes of Porphyria
Porphyria may be inherited or acquired. Most forms of porphyria are inherited.
In 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.
- Estrogen medication.
- 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.
Risk factors for Porphyria
Risk factors for porphyria include
- Alcohol consumption.
- Family history of porphyria.
- Northern European ancestry.
- Steroid hormones.
- Viral infection.
Diagnosis of Porphyria
To make a diagnosis, the doctor will order blood urine or stool samples. 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 for Porphyria
No cure exists for the condition, but it is possible to manage symptoms. Effective management depends on the type you have.
For acute porphyria, treatment 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, treatment 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
- 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.
Precautions to be taken in Porphyria
There is no cure for this disease, but eliminating triggers can prevent seizures and life-threatening conditions.
- Drugs, alcohol and smoking should be avoided.
- Staying out of sunlight is necessary in case of cutaneous porphyria.
- Wear long sleeves, hats, coats, and other protective clothing to prevent the sunlight.
- Diet plays an important role in preventing porphyria. Reducing consumption which increases blood pressure and following a diet recommended by a nutritionist will help in maintaining good health.
When to see a doctor?
Porphyria is a rare disease. Therefore, communicating with your doctor can help you make a decision about the treatment of the condition. Since this condition is triggered by many external factors, your doctor will advise you to take certain precautions to prevent attacks.
Patients suffering from porphyria should consult a medical team for a cure. This medical team includes
- Genetic Counselor To find out the origin and possibility of passing this mutated gene on to your offspring and future generations.
- HematologistTo diagnose and treat blood-related symptoms.
- DermatologistFor the treatment of skin diseases.
- HepatologistTreats liver diseases.
- NeurologistTo control neurological symptoms.