Severe stomach pain and loss of consciousness for no reason... Let's learn about this rare disease? (Acute Hepatic Porphyria)

Imagine, for no apparent reason, you suddenly have an unbearable stomachache. Along with that, your limbs go numb, you feel like you're going to faint, and you feel nauseous. Even after seeing several doctors and doing many tests, the exact cause of the illness cannot be found. Have you or someone you know had this experience? Perhaps the cause is a very rare genetic condition that many people in our country have not even heard of. Today we are going to talk about one such condition, Acute Hepatic Porphyria , or AHP.

Simply put, what is Acute Hepatic Porphyria (AHP)?

AHP is a rare genetic disorder that affects our nervous system and sometimes our skin. It is so rare that it affects about 5 in 100,000 people. It can cause sudden, severe, painful symptoms. Sometimes, these can be life-threatening.

To understand this, let's talk a little about the blood in our body. Our red blood cells contain a protein called `` Hemoglobin ''. Its main job is to pick up the oxygen that comes into the lungs when we breathe and deliver it to every other organ and tissue in the body. It's like a 'delivery service' that carries oxygen.

There is another component that is essential to making this protein called ``Hemoglobin'', and we call it ``Heme'' .

What happens in the body of a person with AHP disease is a decrease or loss of an enzyme that is needed at some stage in the process of producing this component called ``Heme''. It is like when cooking a dish, if one ingredient is missing, the dish cannot be prepared properly.

The deficiency of this enzyme occurs mainly in our liver . We also call the liver `(Hepatic)`. That is why this disease has been named `Acute Hepatic Porphyria` .

Now, what happens when we can't make `(Heme)`? The raw materials that were used for it, namely `(Porphobilinogen – PBG)` and `(Aminolevulinic acid – ALA)`, start to accumulate in the liver. These toxins accumulate in the blood and travel throughout the body, especially damaging our nervous system. It is because of that nerve damage that symptoms like severe pain , numbness , and nausea arise.

What are the main types of AHP disease?

There are four main types of AHP. Each type is caused by a deficiency in a different enzyme in the process of making ``(Heme)``. But all four mainly affect the liver and nervous system.

Acute Intermittent Porphyria (AIP)

This is the type that affects 80% of AHP patients, that is, the majority. In this, there is a deficiency of the enzyme `(Hydroxymethylbilane synthase – HMBS)`. The reason for this is a change in the `(HMBS)` gene. In medicine, we call this a `(mutation)` gene . This can sometimes be inherited from parents to children. Or sometimes it can occur randomly in a person without any family history.

What do AHP symptoms feel like?

Not everyone with AHP has the same symptoms. Some people may not have any symptoms at all throughout their lives. But some people may have frequent, severe attacks. It is important to recognize these symptoms.

What are the triggers that cause the disease to worsen?

A person with AHP can live a normal life. However, certain things can trigger the disease. It is very important to be aware of these.

• Certain medications: Especially certain medications such as antibiotics containing `(Barbiturates)` and `(Sulfa)`. If you have AHP, it is essential to talk to your doctor before taking any medication.
• Alcohol consumption: Alcohol is the main cause of exacerbation of this disease.
• Strict dieting or fasting: Eating a diet low in calories and carbohydrates (starch) can worsen the disease.
• Hormonal changes: Changes in hormone levels, especially in women, associated with their menstrual cycle.
• Stress and Infections: Any type of stress on the body, even an infectious condition like a fever or a cold, can aggravate the disease.

When should you see a doctor?

If you have these symptoms, please do not dismiss them as normal. It is very important to seek medical advice, especially in the following cases:

• If you have unexplained, recurring severe stomach pain.
• If neurological symptoms such as numbness and weakness occur at the same time.
• If you know that someone in your family has the disease `(Porphyria)`.
• If you notice that your urine is turning a dark red/brown color.

If you experience severe symptoms, such as unbearable pain, difficulty breathing, mental confusion, or loss of limbs, go to a hospital's Emergency Treatment Unit (ETU) immediately.

Is there a treatment for AHP?

Since this is a genetic disease, there is no cure yet. However, there are very effective treatments to control and prevent exacerbations of the disease.

In severe cases, hospitalization and treatment are required.

• The main thing is to identify the trigger that caused the disease to flare up and stop it.
• Strong painkillers are given to control severe pain.
• Medications are given to control nausea and vomiting.
• By giving the body glucose (sugar), that is, glucose with saline through a vein, the production of toxins in the liver can be reduced.
• As a specific treatment , `(Heme)` injections are done `(Hemin infusions)`. This is done by giving `(Heme)` externally, sending a signal to the liver saying, "You have `(Heme)`, you don't need to make any more," and stopping the production of toxins.
• Apart from this, there are now modern drugs produced through genetic technology to prevent the disease from recurring for those who have frequent exacerbations.

The doctor who examines you will determine the most suitable treatment for you.

AHP, Acute Hepatic Porphyria, Porphyria, Stomach ache, Neurological diseases, Genetic diseases, Heme, Hemoglobin, Porphyrin, Rare diseases