Porphyria: Types, Symptoms, and Treatment

Introduction

Porphyria refers to a rare group of genetic (inherited) ailments that occur due to porphyrin (natural chemicals) buildup in the body. Porphyrins play a crucial role in the functioning of hemoglobin in your body. Hemoglobin is a red blood cell protein that attaches iron, links to porphyrin, and supplies oxygen all over your body. When the level of porphyrins goes higher, it can lead to many problems, including porphyria.

Porphyria affects the skin and nervous systems.  Based on the site or organ that it affects, porphyria is of two types- acute porphyria involving the nervous system and cutaneous porphyria involving the skin. Abdominal pain, high blood pressure, chest pain are common symptoms that last for days to weeks. One of the most common forms of acute porphyria is acute intermittent porphyria.

Alcohol, smoking, and certain medications triggers porphyria.  Hence, expert healthcare recommendations will be useful in the treatment of porphyria.

What Are the Types of Porphyria?

There are two categories of porphyria found in humans. These types determine the treatment for porphyria.

Some of the classifications are defined based on the system that becomes overactive. In erythropoietic porphyria, the bone marrow produces porphyrin in higher levels than required, and in hepatic porphyria, the liver produces high porphyrin. 

The two broad types of porphyria are:

• Acute porphyria: Acute porphyria affects the nervous system. Symptoms do not last long but can come back over time. When attacks occur, it causes nerve damage and weakness in the muscles that take a long time to get better. It occurs due to deficiency of porphobilinogen deaminase enzyme leading to the accumulation of toxic porphyrin in the body.
• Cutaneous porphyria: This form of the disease causes skin symptoms when exposed to sunlight. Areas commonly affected are the face and back of hands, ears, neck, and forearm. Porphyria cutaneous tarda is one of the acquired forms characterized by painful skin lesions due to light sensitivity. 

Most types of porphyria are genetic disorders, it is inherited from parents when they pass an abnormal gene to their child.  This can be a  defective gene from one of the parents (autosomal dominant pattern) or defective genes from both parents (autosomal recessive pattern)

What Are the Symptoms of Porphyria?

Few individuals might develop symptoms of both the types of porphyria.

Symptoms of acute porphyria are: 

• Chest pain 
• Reddish-brown colored urine
• Fast heartbeat that causes high blood pressure
• Pain in the back and limb 
• Abdominal pain
• Constipation and nausea
• Urinary retention meaning the bladder does not clear out urine completely
• Mental health instability
• A perception of something seen, heard, touched, smelled, or tasted that did not happen in reality or hallucination
• An uncontrolled disturbance which arises in the brain and results in involuntary movement of body parts

Symptoms of cutaneous porphyria include:

• Extreme sensitivity to sunlight
• Itching and swelling of the affected part
• Formation of a blister on the skin when exposed to light
• Skin darkening
• The outer layer or epidermis of skin comes off, leaving a denuded surface

When to See a Doctor?

Porphyria is a rare disorder; hence communicating with your doctors can help in deciding the treatment of the disease. As the condition gets triggered by many external factors, doctors will advise you to take certain precautions to prevent the attacks. 

Patients suffering from porphyria need to consult a team of doctors to get cured. This team of doctors includes:

• Genetic counselor –  To understand the origin and chances of passing this mutated gene to your offspring and future generations.
• Hematologists – To diagnose and treat blood-related symptoms.
• Dermatologists – For treating skin related diseases.
• Hepatologists – For treating liver disorders.
• Neurologists – For controlling neurological symptoms

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What Are the Causes of Porphyria?

All porphyrias, regardless of their type, can lead to a problem in heme production.

The accumulation of porphyrin in the body is because of the shortage of the enzymes involved in  heme production. Production of heme protein takes place in the bone marrow and liver and involves eight types of enzymes. During the synthesis of heme protein, porphyrins and its precursors are formed. If any of these eight enzymes occur in lower levels during the process, the porphyrin compounds build up in the skin, liver, and other body organs that can be seen when symptoms occur at those sites.

Porphyria is caused due to transfer of mutated genes. If porphyria is inherited, the cause is: 

• Autosomal dominant pattern. In this case, the defective gene comes from one of our parents.
• Autosomal recessive pattern. When the mutated genes are inherited from both the parents. 

Porphyria cutanea tarda (PCT) typically is acquired rather than inherited, although the enzyme deficiency may be inherited. 

Apart from genetic factors, various environmental factors (triggers) can also put you at the risk of developing porphyria. When you are exposed to these factors, the demand of your body for the production of heme happens to increase. This demand overwhelms the enzyme (deficient) while establishing a process in motion that leads to porphyrins buildup. Some of the triggers include the following:

• Certain types of medicines, such as hormonal drugs
• Dieting
• Fasting
• Exposure to sunlight
• Consuming recreational drugs
• Smoking
• Drinking alcohol
• Physical and emotional stress
• Menstrual hormones (the occurrences of porphyria attacks after menopause and before puberty are rare)

How is  Porphyria diagnosed ?

As porphyria has common symptoms similar to other diseases, lab tests are required to make a complete diagnosis. The tests are performed after identifying the type of porphyria affecting the patient. 

Your doctor will recommend you to complete the following tests:

• Blood, Urine, and Stool Test: These tests measure the level of porphyrins in the body via blood, urine, or stool. When the symptoms outbreak, undergoing these tests will give the best results.
• Genetic Tests: Diagnostic procedures are performed to identify if the disease is due to gene mutation or due to abnormal genes transferred from the parents.

What is the Treatment for Porphyria?

There is no cure available until now for eliminating porphyria, and so the medications focus on managing the symptoms of the disorder.

• Acute porphyria attacks are treated in the hospital, and the treatment lasts for 3 to 4 days.
• Cutaneous porphyria is treated with phlebotomy, in which the patient’s blood is removed every two weeks to maintain the level of iron in their body. Regular blood and porphyrin tests are performed to keep a check on the iron levels. Dietary supplement to replace vitamin D deficiency is given as the patient cannot go out in sunlight.
• Opioids or anesthetic medications help in managing pain.
• Gene Therapies. FDA has approved a drug sold under the name Givosiran for the treatment of porphyria in adults.

What Are the Complications of Porphyria?

Listed below are few complications that occur in affected individuals:

• In Acute Porphyria: There is a greater risk of liver cancer. Alcohol consumption and infections of hepatitis A and C trigger cancer forming cells in such cases.
• Chronic kidney failure: The patient can experience loss of kidney function when kidneys become unable to filter and excrete waste from the body. In advanced stages of kidney failure, toxic wastes, fluid, electrolytes accumulate in the body. 
• Anemia In Erythropoietic Porphyria: The patients develop severe anemia. Sometimes removal of an enlarged spleen will help in curing anemia.
• High blood pressure

What Are the Precautions Taken in Cases of Porphyria?

There is no cure for the disease, but eliminating triggers can prevent attacks and life-threatening conditions. 

• Drugs, alcohol, and smoking needs to be avoided .
• In cases of cutaneous porphyria, staying out of sunlight is necessary.
• Wearing long sleeves, hats, coats, and other protective clothing to prevent sunlight falling on your skin.
• Diet plays a vital role in the prevention of porphyria. Lowering the consumption that increase blood pressure and following a dietician -recommended diet plan will help in maintaining good health.

Conclusion

Although porphyria does not have a permanent cure, medical treatment, encouragement, motivation, and few precautions can help the individual lead a normal life.

Frequently Asked Questions (FAQs)

Can I Have More Than One Type of Porphyria?

There are rare cases of patients reporting more than one type of porphyria.

Does the Use of Sunscreen Helps in Preventing Cutaneous Porphyria in Affected Individuals?

Stepping out in sunlight can lead to cutaneous porphyria despite sunscreen application.

How Does Porphyria Affect Pregnancy?

Women with acute porphyria might have attacks during pregnancy that require special care.