Porphyria – what it is

This disease refers to a group of disorders that result from the accumulation of chemicals that are involved in porphyrin production in the body.< /strong>

Porphyrins are essential for the function of hemoglobin, a protein in red blood cells that binds to porphyrin and iron and carries oxygen to tissues and organs. High levels of porphyrins can cause serious problems.

The disease mainly affects the nervous system, skin and other organs. Signs and symptoms may vary depending on the specific type of disease and its severity.

The disease is usually inherited – one or both parents pass the defective gene on to their child. But in some types of the disease, environmental factors can cause the development of symptoms.

What are the symptoms

There are two main categories of the disease – acute, which affects the nervous system, and cutaneous, which mainly affects the skin. Some types of the disease have both nerve and skin symptoms, while others have primarily nerve or primarily skin manifestations.

Acute disease category

They are distinguished by the fact that they usually cause symptoms affecting the nervous system, which appear quickly and can be life-threatening.

Attacks of the acute category of the disease are rare in the age before puberty and after menopause in women. Clinical manifestations may last 1-2 weeks and usually the condition improves slowly after the attack.

Possible signs and symptoms of acute porphyria are:

  • Severe abdominal pain;
  • Abdominal swelling;
  • Constipation or diarrhea;
  • Vomiting;
  • Insomnia ;
  • Rapid heartbeat – palpitations;
  • High blood pressure;
  • Anxiety or nervousness;
  • Seizures;
  • < li>Changes in consciousness such as confusion, hallucinations, or paranoia;

  • Difficulty breathing;
  • Muscle pain, stiffness, numbness, weakness, or paralysis;
  • Red or brown colored urine.

Cutaneous porphyria causes symptoms expressed in hypersensitivity to sunlight. Attacks of the skin category of the disease can to last several days. In some of the forms of the disease, clinical manifestations may appear for the first time during infancy or childhood.

As a result of exposure to the sun, you can get:

  • Sensitivity of the skin to sunlight, sometimes even exposure to artificial light causes burning pain;
  • Sudden painful reddening of the skin /erythema/ and swelling /edema/;
  • Blisters that take weeks to heal;
  • Itching;
  • Excessive skin tenderness;
  • Scarring or changes in the color of the skin in the areas of the skin where the blisters were healed;
  • Accelerated hair growth;
  • Urine with a red and brown color.

< h3>When to seek medical attention

Many of the signs and symptoms of porphyria are similar to other diseases, so it is difficult for most people to know when they are having an attack of porphyria. If you develop any of the following symptoms, you should seek medical attention immediately:

  • Severe abdominal pain, which may appear in the chest, legs and back, accompanied by constipation, vomiting and sometimes diarrhea;
  • Sensitivity to sunlight, and sometimes artificial light, which leads to burning pain and the sudden appearance of painful blisters on the skin, redness and swelling;
  • Unusual color of urine – red or brown.

Treatment of porphyria

Treatment focuses on quickly controlling symptoms and preventing complications. This may require hospitalization in some more severe cases. Treatment may consist of:

  • Stopping medications that may cause symptoms;
  • Medications to control pain, nausea, and vomiting;
  • Immediate treatment of the infections or other diseases that provoked the symptoms of porphyria.

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