When is the best time to be tested for an acute porphyria?

The best time to be tested for porphyria is at the earliest opportunity, provided a reliable test is available for use at that age. In practice, this means that families should be offered screening for acute porphyria as soon as possible after a relative has been found to have the condition, starting with the patient's parents, brothers and sisters, and children. When one or other parent is already known to have an acute porphyria, their children should be tested as soon as practicable after birth. It is worth enquiring about this during pregnancy as your doctor will then be able to find out when your baby should be tested. In some cases, it is now possible to test baby at birth but it may be necessary to wait until your child is one year old or, occasionally, even older.

 

There are two man advantages of early diagnosis. First, those who are found to have inherited one of the acute porphyrias can be advised about how to reduce the risk of an acute attack. Second, if an acute attack does develop, your doctor will be able to make the diagnosis and start special treatment early. The symptoms of an attack of acute porphyria are not always easy to recognize and, if the condition is not already diagnosed, there is a risk that your doctor will use drugs that may make the attack worse or may even think that an operation is necessary.