Your browser is no longer supported

For the best possible experience using our website we recommend you upgrade to a newer version or another browser.

Your browser appears to have cookies disabled. For the best experience of this website, please enable cookies in your browser

We'll assume we have your consent to use cookies, for example so you won't need to log in each time you visit our site.
Learn more


  • Comment

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;



- Weakness;



- Hallucinations;



- Seizures;



- Purple-coloured urine;



- Mental disorders;



- Anxiety;



- Paranoia.



- When the skin is affected symptoms include:



- Blisters;



- Itching;



- Swelling;



- 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.



Acute Treatment
- 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.



Long-term management
- 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.

  • Comment

Related files

Have your say

You must sign in to make a comment

Please remember that the submission of any material is governed by our Terms and Conditions and by submitting material you confirm your agreement to these Terms and Conditions. Links may be included in your comments but HTML is not permitted.