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Porphyria

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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.

 

 

Causes
- 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.

 

 

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
- 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.

 

 

Prevention
- 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.

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