Why test for Porphyria?

We believe porphyria is very under-diagnosed as it can imitate a lot of other complaints.

• Indeed more testing could minimise a battery of other tests. Typically, patients have been put through many expensive tests or procedures before it is thought to check for porphyria. The cost of testing for porphyria is not high compared to many other tests that are routinely done.
• Controversially, we believe the genetic predisposition for porphyria could be as high as 1 in 500[53] in the population although active porphyria may be as low as 1 in 10,000.
• Some early figures suggest that it is rare.
• Porphyria is incurable as yet. There is a high emphasis on prevention strategies to keep it latent or symptom free for a long life. But, some porphyrias can become serious progressive degenerative disorders. Some treatments are available.[54]
• Porphyria has been mistaken for: Guillain Barre, growing pains, Lupus, eczema, somatisation disorders, epilepsy, MS, dermatology, depression, appendicitis,Parkinson's and many, many more.
• Suspicion is higher if symptoms come and go or appear after medication or anaesthetic.

Based on the above estimated statistics, a GP could perhaps expect to meet a patient with porphyria every five years and suspect or test a patient once per year.

Children with any suspicion of porphyria should be tested at least once per year from age 11 to age 15. Earlier age laboratory testing could prove useful but may give false negatives. Ideally urine, faecal and blood tests, at times of suspected symptoms and again between episodes. DNA testing is possible in younger children with known family history and would prove more accurate if it is available.

Quotes from the journals:

Family studies are essential to identify individuals with clinically latent porphyria so that they can be counseled about the need to avoid drugs and other factors that provoke acute attacks…
A negative screening test does not exclude an acute attack[55]

The acute attack still carries a significant risk of mortality despite improvements over the past 20 years … A successful outcome depends on early diagnosis, removal of precipitating factors and provision of intensive supportive therapy.[56]