Place 2 how-to wants to be a reference in the field of personal growth and development, business and success, and to provide its audience with the most professional articles in the world.

Porphyria; Types, symptoms, causes and methods of diagnosis and treatment

Study guide

Porphyria or porphyria is a group of rare blood disorders. This disease is characterized by excessive production and excretion of porphyrins. Porphyria is an inherited disease in which one or both parents pass an abnormal gene to their child. Abdominal pain, photosensitivity, and nervous system problems are the most common symptoms of porphyria. In this article, we will introduce you to the types of porphyria, its symptoms, causes and methods of diagnosis and treatment.

What is porphyria?

People with these disorders have difficulty making a substance called heme in their body. Heme is made from body chemicals called porphyrins, which bind to iron. Heme is a component of hemoglobin, a protein in red blood cells that carries oxygen. It is also found in myoglobin (a protein in the heart and skeletal muscle). The body goes through several stages to make hem. In people with porphyria, the body lacks the specific enzymes needed to complete this process. Lack of these enzymes causes porphyrin to accumulate in tissues and blood and can cause a variety of symptoms, from mild to severe.

Types of porphyry

There are several types of porphyry that fall into two categories:

  • Acute (hepatic): Acute types of this disorder are caused by liver problems. This type of disease is associated with symptoms such as abdominal pain and central nervous system problems.
  • Cutaneous (erythropoietic): Porphyry cutaneous types are also caused by problems with red blood cells. These are related to photosensitivity.

1. Porphyria due to delta aminolulinate deficiency

This type of porphyria is caused by a deficiency of the enzyme delta aminolinoic acid (ALA) and is one of the most severe and rare forms of porphyria. Only about 10 cases of this type of porphyria have been reported worldwide; All the infected people were men. Symptoms of this form of porphyria appear as an acute attack, often in the form of severe abdominal cramps with vomiting and constipation.

2. Acute intermittent porphyria

Deficiency of hydroxymethyl balance balance synthase (HMBS) is the cause of this type of porphyria. In most cases, this type of disease does not cause symptoms unless it is triggered by one or more of the following:

  • Hormonal changes;
  • Specific drug use;
  • alcohol consumption;
  • Diet changes;
  • Infections;

Girls who are in their teens are more likely to have the following symptoms:

  • Vomit;
  • insomnia;
  • Constipation;
  • Pain in the arms and legs;
  • Muscle weakness;
  • Confusion, hallucinations and seizures;
  • heart beat.

3. Hereditary coproporphyria (HCP)

Hereditary coproporphyria (HCP) is characterized by a deficiency in the enzyme coproporphyrinogen oxidase (CPOX). Like acute intermittent porphyria, this type of symptom may not appear unless it is caused by behavioral, environmental, or hormonal changes. Men and women are equally affected by this type of porphyria, although women are more prone to symptoms.
Attacks can include symptoms such as:

  • Acute abdominal pain;
  • Pain or numbness in the arms and legs;
  • Vomit;
  • High blood pressure;
  • Convulsions.

4. Varigate porphyry

This form of porphyria may vary between skin symptoms, neurological symptoms, or both. Sun allergy is one of the most common skin symptoms of porphyric varicose veins (VP). Acute attacks of this type of porphyria often begin with abdominal pain.

5. Congenital erythropoietic porphyria

Congenital erythropoietic porphyria (CEP) is caused by a malfunction of the enzyme europorphyrinogen III cosentase (UROS). The most common symptom is hypersensitivity of the skin to sunlight and some types of artificial light. Blisters and skin rashes can often be caused by exposure to light. Congenital erythropoietic porphyria is a very rare disorder. More than 200 cases have been reported worldwide.

6. Porphyry Cotanatarda

Cotanatarda porphyria is the most common type of porphyria, according to the American Porphyry Foundation. This form of the disease is associated with extreme sensitivity to sunlight and painful blisters on the skin. This form of porphyria is commonly an acquired disease, but some people develop it due to a deficiency in the enzyme uroporphyrinogen decarboxylase (UROD). Both men and women can be affected, but cutaneous porphyria is more common in women over 30 years of age.

7. Hepatotropic porphyria (HEP)

In this type of porphyria, skin sensitivity to light often leads to severe blisters, sometimes accompanied by amputation or loss of fingers. The skin symptoms associated with this form of porphyria usually begin in infancy. People may also have hyperthyroidism, reddish-brown teeth (erythrodontia), and red or purple urine. Hepatotropic porphyria is very rare and only about 40 cases have been reported worldwide.

8. Erythropoietic protoporphyria

Erythropoietic protoporphyria (EPP) is an inherited metabolic disorder that causes the skin to become overly sensitive to light. The skin often becomes itchy and red after exposure to the sun. Symptoms usually appear in infancy. This is the most common porphyria in children. Although both men and women can see the symptoms of EPP, the symptoms are more common in men.

Symptoms of porphyria

Symptoms of porphyria depend on its type. Severe abdominal pain as well as reddish brown urine is commonly seen in all types. This is caused by the accumulation of porphyrins and usually occurs after an attack.

Symptoms associated with acute (liver) disease

  • Limb pain;
  • Neuropathy;
  • blood pressure;
  • Tachycardia (rapid heartbeat);
  • Electrolyte imbalance.

Symptoms associated with skin disease (erythropoietic)

  • Severe skin sensitivity to light;
  • Anemia (when the body does not produce enough new red blood cells);
  • Skin pigmentation change;
  • Variable behavior due to sun exposure.

Causes of porphyria

Porphyria is a genetic disease. According to the US National Institutes of Health, most types of porphyria are inherited from an abnormal gene in one parent.
However, certain factors may cause porphyria symptoms. These factors include:

  • Use of certain drugs;
  • Use of hormones such as estrogen;
  • alcohol consumption;
  • smoking;
  • Infection;
  • Sun exposure;
  • Stress.

Diagnosis of porphyria

Many tests can help diagnose this disease.
Tests that look for physical problems include:

  • CT Scan;
  • Chest X-ray;
  • Echocardiography (EKG).

Tests for blood problems include the following:

  • Urine test for fluorescence;
  • Porphobilinogen urine test (PBG);
  • Complete blood cell count (CBC) test.

Treatment of porphyria

There is no cure for porphyria. Treatment focuses on symptom management. Most symptoms can be treated with medication.

Treatment of acute porphyria

  • Beta-blockers, such as atenolol to control blood pressure;
  • High carbohydrate foods;
  • Opioids such as morphine to control pain;
  • Hematin to shorten attacks;
  • Gene therapy such as Givosiran.

In November 2019, a trusted source from the US Food and Drug Administration approved Giuseppe for the treatment of adults with acute hepatic porphyria.

Treatment of erythropoietic porphyria

  • Iron supplements for anemia;
  • Blood injection;
  • bone marrow transplant.


Porphyria has no cure and is difficult to manage. Complications of this disease include:

  • Coma;
  • Gallstone;
  • Paralysis;
  • Respiratory failure;
  • Liver disease and failure;
  • Skin scars.


There is no specific way to prevent porphyria, because it is a genetic disease. However, by eliminating the stimuli, the symptoms can be reduced.
Factors to consider are:

  • Avoid recreational use of drugs or narcotics;
  • Reduce psychological stress;
  • Avoid drinking too much alcohol;
  • Avoid taking certain antibiotics;
  • Stay away from strong sunlight;
  • Wear long-sleeved clothing, hats and other protective clothing when going out.

And the last word…

The long-term outlook for the disease is very different, but treatments are being evaluated daily. If you control your symptoms and avoid stimulants, you can do your daily activities with less difficulty. Early detection can help you lead a relatively normal life. Disease management is also very important.
Do you have experience with porphyria? Which of the following symptoms have you experienced? Let us know your thoughts and experiences about this disease.

Warning! This article is for educational purposes only and you should consult your doctor or specialist to use it. more information





Porphyria; Types, symptoms, causes and methods of diagnosis and treatment

We will be happy to hear your thoughts

Leave a reply

place 2 how-to
Enable registration in settings - general