What is Porphyria? Let's learn about this rare disease in simple terms

Have you ever suddenly developed a severe stomach ache that you couldn't even imagine? Or do you experience unbearable pain like blisters and burning when you go out in the sun? Behind these things, it could be a rare disease called 'Porphyria', which many people in our country have not even heard of. The name may sound a little strange, but this is a condition caused by a chemical process in our body that goes wrong. So let's talk about this simply, as if we were telling a friend.

Simply put, what is Porphyria?

To understand this, let's first take a look at our blood. Our blood is red in color and carries oxygen throughout the body because it contains a special substance called 'heme' . The production of this 'heme' in our body is like the work of a big factory. It is a complex process that takes place in eight (8) steps.

Imagine cooking a meal. You have to add different things at different levels, step by step. Similarly, there are special proteins called enzymes to help with each step of making this 'heme'. There is a different enzyme for each step.

Porphyria occurs when one of these eight steps is disrupted, and the enzyme responsible for it is not working properly. This means that chemicals called porphyrins and porphyrin precursors, which are produced during the process of making heme, are not removed from the body and instead start to accumulate inside the cells. It's like when a machine breaks down on a factory production line, the goods pile up. The accumulation of these chemicals in the body is the cause of various symptoms.

In most cases, the cause of these enzyme deficiencies is a genetic mutation that runs in families. This means that there is a chance that this condition will run in families. But don't worry, skilled doctors can help diagnose the condition, manage the symptoms, and reduce the impact it has on your life.

What are the main types of porphyria?

There are about 8 main types of porphyria. But they can all be divided into two main groups based on their symptoms. This is very easy to remember.

Now let's take a look at the subtypes of these two categories.

Types of Acute Porphyrias

These are the types that cause sudden "attacks".

• Acute Intermittent Porphyria (AIP): This is the most common of the acute types. It causes severe stomach pain, but no skin problems.
• Hereditary Coproporphyria (HCP): This can cause stomach pain and blisters on the skin when exposed to the sun.
• Variegate Porphyria (VP): This can also cause both stomach pain and skin blisters.
• ALAD-Deficiency Porphyria: This is very, very rare. Symptoms usually appear in childhood.

Types of Cutaneous Porphyrias

These are the types that affect the skin. These are also divided into two categories: those that cause blisters and those that cause pain without blisters.

Blistering cutaneous porphyria:

• Porphyria Cutanea Tarda (PCT): This is the most common type of porphyria, and usually occurs in adulthood.
• Congenital Erythropoietic Porphyria (CEP): This is a very rare, severe condition. Symptoms are present at birth.

Non-vesicular cutaneous porphyria:

• Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP): In these two types, rather than blistering, the skin becomes severely painful, inflamed, swollen, and red when exposed to the sun.

What are the symptoms of this disease?

Symptoms vary greatly depending on the type of porphyria you have. Some people have very mild symptoms, while others may have severe symptoms that can be life-threatening. Some people may have the gene but never experience any symptoms at all.

Let's categorize these characteristics for easier understanding.

What are the causes and triggers of porphyria?

As we discussed earlier, the main reason for this is a genetic mutation. But the important thing here is that not everyone who has the gene will develop symptoms. Many people live as carriers of this gene without any problems.

For an "attack" with symptoms of acute porphyria to occur, a certain 'trigger' is required. These triggers cause the body to need more 'heme', which then causes the weakness in that process to manifest, and harmful chemicals to accumulate in the body.

Here are some of the main triggers:

• Increased female hormone levels: Especially during certain times of a woman's monthly menstrual cycle.
• Certain medications: For example, some painkillers, anesthetics, and birth control pills.
• Excessive alcohol consumption.
• Smoking.
• Restricting food intake: Fasting or eating a very low-carbohydrate diet.

How does a doctor find this?

When you tell your doctor about your symptoms, he or she will examine you and ask if anyone in your family has had similar symptoms. Because porphyria is a rare disease, it can sometimes take a while to diagnose it accurately.

Laboratory tests are mainly performed to confirm the diagnosis.

• Urine tests: During an acute porphyria "attack," levels of chemicals called ALA and PBG in the urine are very high. This is the main test to diagnose the disease.
• Blood tests
• Stool tests

These tests can help determine exactly which type of porphyria you have. Then, if necessary, genetic testing can be done to confirm the genetic mutation that caused it.

How is it treated?

Treatment options vary depending on the type of porphyria you have and the severity of your symptoms. Your doctor will develop a treatment plan that is right for you.

Treatment for Acute Porphyrias

If you have an "attack", you usually have to be hospitalized and treated .

• A drug called 'Hemin' is administered intravenously to reduce the levels of harmful chemicals (ALA and PBG) that have accumulated in the body.
• Other medications are given to control symptoms such as severe pain, nausea, and seizures.
• Saline (IV fluids) are given to correct dehydration and salt levels in the body.
• To prevent recurrence of the "attack", a monthly injection of the vaccine Givosiran may be recommended.
• The most important thing is to avoid the triggers we talked about earlier.

Treatment for Cutaneous Porphyrias

In these types, the most important and number one treatment is to protect the skin.

In addition, there are other treatments depending on the type:

• For EPP/XLP: There is a small implant called 'Afamelanotide' that is placed under the skin. The medicine released from this helps reduce the pain that occurs when you are exposed to the sun.
• For PCT:
• Phlebotomy: To remove excess iron from the body, a small amount of blood is taken at specific intervals .
• Hydroxychloroquine: This drug, used in low doses, helps the body eliminate porphyrins accumulated in the body through urine.
• For CEP: Strict sun protection is essential. If anemia is severe, blood transfusions may be necessary. The only way to completely cure this disease is a bone marrow transplant .

How to live with this situation?

Once you are diagnosed with porphyria, your life will change a bit. Regular check-ups with your doctor will be a part of your life. This is important to monitor the condition and to see if complications develop.

Living with a rare disease like this can be emotionally overwhelming. Sometimes you may wonder why this is happening to you alone. Talk to your doctor, your family, or a trusted friend about your feelings. Joining a support group for people with this condition can also be a great help. Remember that you are not alone.