hormonal and metabolic disorders
Overview of Porphyrias
Screening for Porphyrias
In order to avoid exposure to substances that can precipitate acute porphyria attacks or cutaneous porphyria symptoms, people need to know whether they carry a genetic mutation that leads to a deficient enzyme. Commonly, the genes in a blood or saliva sample are analyzed. A child whose parent has a known genetic abnormality that can cause an acute porphyria ideally should be tested for presence of the same mutation well before puberty. The child then can learn in advance how to avoid acute attacks, which are rare before puberty. Older family members of a person with a known genetic abnormality should also be tested to confirm or reject the possibility that they are predisposed to developing an acute porphyria or could pass the disorder to a child. 