VOL: 101, ISSUE: 23, PAGE NO: 26
What is it?
What is it?
- Porphyria is the generic name for a group of conditions in which there is abnormally high production of porphyrins.
- Porphyrins are produced in the liver and bone marrow and are light-sensitive compounds that are crucial to the production of haem, the iron-containing part of haemoglobin in the blood.
- In porphyria, a deficient enzyme causes an excess of porphyrins, which build up in the blood, urine and stool.
- Most porphyrias are inherited, although porphyria cutanea tarda (PCT) is acquired.
- Some forms are the result of inheriting an abnormal gene from one parent (autosomal dominant), others of inheriting an abnormal gene from each parent (autosomal recessive).
- The risk that parents can transmit the disease to their children depends on its type.
- Environmental factors, such as drugs, chemicals, diet, and sun exposure can greatly influence the severity of symptoms.
- When the nervous system is affected symptoms include:
- Chest pain;
- Abdominal pain;
- Muscle cramps;
- Purple-coloured urine;
- Mental disorders;
- When the skin is affected symptoms include:
- Severe scarring, increased hair growth and bacterial infection of damaged skin due to extreme photosensitivity;
- Loss of facial features and fingers through phototoxic damage as well as infection.
- Diagnosis depends on the type of porphyria suspected, but can be difficult because the symptoms are common to many disorders, and interpretation of the tests may be complex.
- Tests may include:
- A medical examination and history;
- Blood tests, including a complete blood count and a test to measure porphyrins in the blood;
- Stool tests and cultures to look for any blood, infection or porphyrins in the stool;
- Urine tests to check for porphyrins and lead.
- Maintaining the body’s electrolyte balance;
- Monitoring blood gases;
- Increasing intake of carbohydrates;
- Medication for pain;
- Sedation for restlessness and agitation;
- Medication for hypertension;
- IV hematin.
- Avoiding alcohol and medication that may bring on an attack;
- A diet high in carbohydrates;
- Avoiding exposure to sunlight;
- Avoiding skin trauma;
- Oral beta-carotene;
- Splenectomy is considered in some cases.
- Genetic testing can identify people at risk.
- Although the genetic deficiency cannot be corrected, episodes can be anticipated.
- Steps to avoid attacks include:
- Avoiding drugs and other trigger factors;
- Protecting the skin from injury or infection.