What is Porphyria? Don't be afraid, let's talk about it simply.

Have you ever had an unbearable burning sensation or blistering of your skin when you go out in the sun? Or have you ever had a severe stomach ache with nausea and vomiting for no apparent reason? These symptoms are different from common illnesses . Perhaps behind this is a very rare disease that many people have not even heard of. That is one such disease called Porphyria . Don't be scared when you hear this name. Today, we will talk about this very simply and in a way that you can understand.

Simply put, what is Porphyria?

To understand this, let's first think of a little factory in our body. There is a very important protein that gives our red blood cells their red color and carries oxygen from the lungs to the rest of the body. It is called 'heme'. This heme is produced in our body in a series of steps, like an assembly line. Just like assembling a car. At each step, special proteins called enzymes work.

Now imagine, what happens if one step in this production chain gets stuck, or if one worker (enzyme) doesn't work properly? The next step can't be made, and the raw materials pile up, right? Similarly, when a defect occurs in a step in the production of heme, the chemicals produced in the previous step, called 'porphyrins' and 'porphyrin precursors', begin to accumulate in the body. It is the accumulation of these chemicals in the body that causes the symptoms of porphyria. These can damage the nervous system or the skin.

What are the main types of porphyria?

Porphyria can be divided into two main categories, based on how the symptoms appear. Understanding this classification will help you better understand the disease.

There are several other subtypes under these two main types. For example, the type called `Acute Intermittent Porphyria (AIP)`, which falls under acute porphyria, and the type called `Porphyria Cutanea Tarda (PCT)`, which falls under cutaneous porphyria, are less common.

What are the triggers that cause symptoms to appear?

Although porphyria is genetic, symptoms do not always appear. There are certain things that can trigger symptoms, or an "attack". These are called 'triggers'. Avoiding these is the best way to manage the disease.

• Certain medications: Some painkillers , birth control pills, anesthetics, and some seizure medications can cause this. If you have porphyria, you should definitely talk to your doctor before taking any medication.
• Alcohol and smoking : Binge drinking and smoking, especially at the same time, are major triggers.
• Diet and fasting: Things like low-carb diets , strict weight loss diets, and fasting can trigger symptoms.
• Mental and physical stress: Things like overwork, mental stress, and surgery can affect it.
• Infections: Symptoms can occur due to the stress placed on the body by any other illness or infection.
• Sunlight: Sunlight is the main trigger for people with Cutaneous Porphyria.

When should you see a doctor? How is the diagnosis made?

Because this disease is rare and the symptoms are similar to other common diseases, it can sometimes take a while to diagnose. It is important to see a doctor if you have any of the following symptoms, especially if they occur frequently.

In acute porphyria

If you experience severe abdominal pain along with symptoms such as nausea, vomiting, constipation, increased heart rate, high blood pressure, muscle weakness, confusion, or seizures, it is very important to go to a hospital immediately, especially an Emergency Department (ETU), as this condition can sometimes be life-threatening.

In Cutaneous Porphyria

If your skin develops blisters, sores, inflammation, redness, or scratches easily after sun exposure, see a dermatologist.

Diagnostic process:

1. Medical examination: First, the doctor will examine you, asking you carefully about your symptoms and family medical history.

2. Laboratory tests: If porphyria is suspected, your urine, blood, and possibly stool samples will be tested for the levels of porphyrins. In severe cases, the urine may turn a dark red or purple color.

3. Genetic Tests: If the disease is confirmed by laboratory tests, genetic tests can be done to find out the specific genetic mutation that caused it.

What are the treatment options?

Treatments for porphyria vary depending on the type of disease and the severity of symptoms. Although there is no cure, symptoms can be controlled and a normal life can be lived.

Treatment for Acute Porphyria

When symptoms become severe (acute attack), hospitalization and treatment are required.

• Giving saline (IV fluids): Balance the body's salts and water.
• Heme Injection: Control heme deficiency in the body and reduce the amount of porphyrin that accumulates.
• Giving glucose: Giving sugars such as dextrose intravenously or by mouth signals the liver to reduce porphyrin production.
• Other treatments: Painkillers for severe pain, and medications for nausea and vomiting.
• Newer drugs like Givosiran (Givlaari): For people who have frequent symptoms, this drug is given monthly to reduce their frequency and severity.

Treatment for Cutaneous Porphyria

• Sun protection:This is the most important thing. Wearing long sleeves, hats, and applying sunscreen with a high level of protection, such as SPF 50+, is essential.
• Phlebotomy: This involves removing a small amount of blood (about one unit) from the body every few weeks. This helps reduce the amount of extra iron in the body and helps remove porphyrins that have accumulated in the liver.
• Medications: Low doses of medications such as chloroquine or hydroxychloroquine can speed up the removal of porphyrins from the liver.