Porphyria corresponds to a group of genetic and rare diseases that are characterized by the accumulation of substances that produce porphyrin, which is a protein responsible for the transport of oxygen in the bloodstream, being essential for the formation of heme and, consequently, hemoglobin. This disease mainly affects the nervous system, skin and other organs.
Porphyria is usually inherited, that is, inherited from parents, however, in some cases, the person may have the mutation but not develop the disease, it is called latent porphyria. Thus, some environmental factors can stimulate the appearance of symptoms, such as sun exposure, liver problems, alcohol use, smoking, emotional stress and excess iron in the body.
Although there is no cure for porphyria, the treatment helps to relieve symptoms and prevent flare-ups, and the doctor's recommendation is important.
Porphyria symptoms
Porphyria can be classified according to clinical manifestations into acute and chronic. Acute porphyria includes the forms of the disease that cause symptoms in the nervous system and that appear quickly, which can last between 1 to 2 weeks and progressively improve. In the case of chronic porphyria, the symptoms are no longer related to the skin and can start during childhood or adolescence and last for several years.
The main symptoms are:
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Acute porphyria
- Severe pain and swelling in the abdomen; Pain in the chest, legs or back; Constipation or diarrhea; Vomiting; Insomnia, anxiety and agitation; Palpitations and high blood pressure; Mental changes such as confusion, hallucinations, disorientation or paranoia; Breathing problems; Muscle pain, tingling, numbness, weakness or paralysis; Red or brown urine.
Chronic or cutaneous porphyria:
- Sensitivity to the sun and artificial light, sometimes causing pain and burning in the skin; Redness, swelling, pain and itching in the skin; Blisters on the skin that take weeks to heal; Fragile skin; Red or brown urine.
The diagnosis of porphyria is made through clinical examinations, in which the doctor observes the symptoms presented and described by the person, and laboratory tests, such as blood, stool and urine tests. In addition, as it is a genetic disease, a genetic test may be recommended to identify the mutation responsible for porphyria.
How the treatment is done
Treatment varies according to the person's type of porphyria. In the case of acute porphyria, for example, treatment is done in-hospital with the use of medication to relieve symptoms, as well as administration of serum directly into the patient's vein to prevent dehydration and injections of hemin in order to limit production porphyrin.
In the case of cutaneous porphyria, it is recommended to avoid sun exposure and to use medications, such as beta-carotene, vitamin D supplements and remedies to treat malaria, such as Hydroxychloroquine, which helps to absorb excess porphyrin. In addition, in this case, blood can be extracted to decrease the amount of circulating iron and, consequently, the amount of porphyrin.
