Porphyrias are caused due to excessive production of accretion of Porphyrins, which are synthesized mainly in the liver or bone marrow. The treatment depends on the type of Porphyria and the symptoms. It is required for the function of hemoglobin, a red blood cell protein that binds iron and transports oxygen to organs and tissues. Significant issues might arise from high porphyrin levels.They are Special Interest to the Dermatologist due to their Photosynthesizing Properties

Porphyria are a group of inherited acquired disorders. Porphyria is classified into two types: acute, which mostly affects the neurological system, and cutaneous, which may affect the skin. Some types of porphyria cause both nervous system and skin.

Porphyria signs and symptoms vary based on the type and severity. Porphyria is usually hereditary, with one or both parents passing on an abnormal gene to their child. Although porphyria cannot be cured, people can manage it by making lifestyle changes to avoid triggering symptoms. The severity of the symptoms is determined by the type of porphyria you have. The condition is classified into two types:

  • Acute porphyrias
  • Cutaneous porphyrias

Symptoms of Porphyrias

The symptoms of porphyria can vary significantly in intensity, type, and individual. Some individuals who have gene abnormalities that produce porphyria have no symptoms.

Acute porphyrias

Acute porphyrias are types of disease that cause nervous system symptoms that occur suddenly and can be severe. Symptoms might continue for days or weeks and often improve slowly after the incident. Acute porphyria can cause the following signs and symptoms:

Cutaneous porphyrias

Cutaneous porphyrias are the type of condition that cause skin symptoms as a result of sun sensitivity, but they usually do not impact the nervous system. Following the signs in cutaneous porphyrias:

  • Blisters on exposed skin, usually the face, hands, and arms
  • Sudden swelling and painful skin redness (erythema)
  • Sensitivity to sunlight and, sometimes, artificial light, causing burning pain
  • Fragile
  • Brown or red urine
  • Itching
  • Excessive hair growth in affected areas

When to see a doctor?

Many of porphyria's signs and symptoms are similar to other, more frequent conditions. This can make it challenging to identify if you have a porphyria attack. Consult a doctor, if you suffer any of the symptoms described above.


All types of porphyria involve a heme production problem. Heme is a protein found in red blood cells that delivers oxygen from the lungs to other body parts. Eight different enzymes are involved in heme synthesis, which occurs in the liver and bone marrow; the type of porphyria is determined by a deficit (deficiency) of a certain enzyme.

Porphyrins accumulate in the skin in cutaneous porphyria, causing symptoms when exposed to sunlight. The accumulation harms the neurological system in acute porphyrias. Eight different enzymes are involved in heme synthesis that occurs in the bone marrow and liver. Porphyrias result from these enzymatic defects.

Genetic forms

Most types of porphyria are hereditary. Porphyria can develop if individuals inherit:

  • A defective gene from one of the parents (autosomal dominant pattern)
  • Both parents' genes are defective (autosomal recessive pattern)

It is not guaranteed that if someone inherit genes that can cause porphyria, can develop signs and symptoms. One could have latent porphyria and never notice any symptoms, which is true for most abnormal gene carriers.

Acquired forms

Although the enzyme deficiency may be inherited, Porphyria cutanea tarda (PCT) is more commonly acquired than inherited. Specific factors that influence enzyme synthesis, such as an excess of iron in the body, liver disease, an estrogen prescription, smoking, or excessive alcohol consumption, might produce symptoms.

Risk Factors

Environmental factors, in addition to genetic risk factors, may contribute to the development of signs and symptoms in porphyria. The body's need for heme synthesis increases when people are exposed to the trigger, and this overwhelms the defective enzyme, triggering a process that results in a buildup of porphyrins.

Examples of triggers include:

  • Exposure to sunlight
  • Physical stress
  • Smoking
  • Recreational drugs
  • Dieting or fasting
  • Certain medications, including hormone drugs
  • Menstrual hormones
  • Emotional stress
  • Alcohol use


Most of the symptoms of porphyria are the same as other common illnesses. Porphyria is even more difficult to diagnose because it is rare.
Lab tests are required to get a solid diagnosis of porphyria and determine the kind of disease individuals have. Depending on the type of porphyria suspected by the doctor, several tests are done. The tests include a combination of blood, urine, and stool testing. Additional testing may be required to determine the type of porphyria individuals have. The diagnosis of porphyria includes:

  • Porphyrin profile
  • Histopathology and Direct Immunofluorescence
  • Urine test
  • Blood test
  • Stool test


The type of porphyria and the severity of symptoms determines treatment. Treatment entails recognizing and avoiding symptom triggers and alleviating symptoms when they occur.

Avoiding triggers

Avoiding triggers may include:

  • Using medications that are known to cause acute attacks.
  • No use of alcoholic beverages or recreational drugs.
  • Fasting and calorie-restricted dieting should be avoided.
  • Don't smoke
  • Taking hormones to prevent premenstrual syndrome.
  • Limiting solar exposure, wear protective gear and apply an opaque blocking sunscreen, such as one containing zinc oxide, while going outside.
  • Immediate treatment of infections and other disorders.
  • Taking measures to reduce mental tension.
  • Patients should be counseled about precipitating factors.
  • Screening of families

Acute porphyrias

The treatment of acute porphyria attacks focuses on symptom relief and avoiding complications. Treatment options include:

  • Injections of hemin, a type of heme medicine, to reduce the body's production of porphyrins.
  • If possible, intravenous sugar (glucose) or sugar administered orally to maintain a sufficient carbohydrate intake.
  • Hospitalization for symptoms such as extreme pain, vomiting, dehydration, or breathing difficulties

Cutaneous porphyrias

Treatment for cutaneous porphyrias focuses on limiting exposure to triggers like sunlight and reducing the amount of porphyrins in the body. This could include:

  • Drawing blood on a regular basis (phlebotomy) to lower the iron in the body, which reduces porphyrins.
  • Using hydroxychloroquine (Plaquenil) or, less often, chloroquine (Aralen) to absorb extra porphyrins and assist the body get rid of them more quickly.
  • A dietary supplement intended to compensate for vitamin D deficiency caused by sun avoidance.

Dos and Don’ts

A person suffering from Porphyria must follow a strict diet. Adequate care is essential for controlling this condition as well as other medical treatments. Follow these listed dos and don'ts-

Do’s Don’ts
Take carbohydrates Have refined sugars, corn syrup, or highly processed foods
Minimize sun exposure Use medications known to trigger acute attacks
Avoid fasting and dieting Smokes
Reduce the emotional stress Take alcohol or recreational drugs

Porphyria Care at Medicover

At Medicover hospitals, we have the best team of Hematologists and Dermatologists who provide the most comprehensive treatment and care. Our diagnostic department is outfitted with cutting-edge technology and equipment for Porphyria diagnosis and treatment planning. In order to achieve faster recovery, our medical specialists work closely with patients to evaluate their health and treatment progress.

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