Here is a simple breakdown of the causes, symptoms, diagnosis, treatment, and prevention methods of porphyria, a group of rare disorders.
Porphyria is often caused by genetic mutations that affect enzymes involved in the production of heme, a component of hemoglobin in red blood cells. Porphyrins accumulate as a result of these mutations because they are not properly metabolized by the body. In individuals with a genetic predisposition to porphyria, certain factors, such as medications, hormones, alcohol, and sunlight, can trigger symptoms.
There are different symptoms associated with porphyria depending on its severity and type. There may be abdominal pain, nausea, vomiting, constipation, muscle weakness or pain, fatigue, neurological symptoms (such as hallucinations or seizures), skin sensitivity to sunlight, or purple or reddish urine as symptoms. Stress, hormonal changes, medications, or alcohol consumption may trigger episodic symptoms.
Clinical evaluation, medical history review, and laboratory tests are used to diagnose porphyria. Porphyrin levels, porphyrin precursor levels, or enzyme activity associated with porphyria may be measured using blood, urine, or stool tests. Porphyria mutations may also be identified using genetic testing. Further imaging studies, such as computed tomography (CT) or magnetic resonance imaging (MRI), may be required to evaluate potential complications of porphyria.
Porphyria treatment aims to control symptoms, prevent acute attacks, and minimize complications long-term. Lifestyle modifications may be part of treatment strategies, such as avoiding triggers (such as certain medications, alcohol, or sunlight exposure), eating well, staying hydrated, and managing stress. It may be necessary to infuse heme intravenously during acute attacks to replenish depleted levels and alleviate symptoms. During acute attacks, medications such as hemin or glucose can also be used to reduce porphyrin production and alleviate symptoms. People with severe or recurrent porphyria attacks who are unable to be treated with other treatments may be considered for liver transplantation.
Keeping porphyria from getting worse involves avoiding triggers that can exacerbate symptoms or precipitate acute attacks. The symptoms of porphyria may be worsened by certain medications, alcohol consumption is limited, the skin is protected from direct sunlight with clothing and sunscreen, and stress can be managed effectively. People with a family history of porphyria may be offered genetic counseling to assess their risk of inheriting the disease and discuss possible reproductive options.
