Newly Diagnosed: Taking the First Step on Your Journey
Becoming educated is a good place to start on your journey with porphyria. Whether you are a patient or a caregiver, knowing as much as possible about the disease will help you be a more active participant in your or your loved one’s healthcare. Learn more below about the different porphyrias, their causes, symptoms, and diagnosis.
Overview
Porphyria comprises a group of genetic disorders caused by disruptions in the heme production cycle. When a given step in the heme production pathway is disrupted, porphyrins and other precursor molecules start to accumulate in different tissues and organs, eventually reaching toxic levels. To learn more about porphyria, click the button below.
Types
Porphyrias are a group of genetic disorders characterized by disruptions in heme production. They are divided into two main types: cutaneous porphyrias, which largely affect the skin, and acute porphyrias, which mainly affect the nervous system. Within each group, there are several subtypes. To learn more about the different types of porphyria, click the button below.
Causes
Porphyria is caused by a disruption in the production of heme, which is a molecule made up of iron and protoporphyrin IX that is essential for oxygen transport in living cells. This causes porphyrins and their precursors to build up to toxic levels throughout the body, while limiting the amount of oxygen carried in the blood. To learn more about the causes of porphyria, click the button below.
Symptoms
Each type of porphyria has its own symptoms, although these can sometimes overlap. Some symptoms of acute porphyrias include pain, gastrointestinal issues, urinary problems, and changes in mental status, while cutaneous porphyrias affect the skin, causing sensitivity to sunlight, sudden and painful redness, swelling, itching, and changes in the skin’s color and fragility. Some types of acute porphyrias also affect the skin. To learn more about symptoms of porphyria, click the button below.
Diagnosis
To diagnose porphyria, clinicians use blood, urine, and stool tests, or genetic testing. Although each type of porphyria stems from the loss of a specific enzyme in the metabolic pathway, all can be diagnosed by a genetic test, or by examining the levels of porphyrins found in an individual’s blood, urine, or stool. To learn more about how porphyria is diagnosed, click the button below.
