Why is this strange disease so hard to diagnose? Let's learn about Acute Hepatic Porphyria (AHP)!

Imagine, you have a severe stomach ache all the time. Along with that, you feel nauseous, vomit, and feel very tired. You go to a doctor, but they can't figure out what the exact cause is. They give you one medicine after another, but nothing helps. Years go by like this. This is a real thing. Today we are going to talk about a condition that is very difficult to diagnose, but we should be aware of it.

What exactly is AHP?

Simply put, AHP is the short name for a condition called Acute Hepatic Porphyria . This is not really a single disease. It is a group of diseases that affect our nervous system, which are genetic, that is, inherited . This group of diseases includes four types of diseases.

In this disease, there is a defect in the process of producing a component called 'Heme' in our red blood cells. This causes harmful chemicals (Porphyrins) to accumulate in the body. These are the ones that cause these severe symptoms.

Symptoms of AHP can come on suddenly. We call this an "attack." When an attack occurs, it can be accompanied by severe stomach pain and many other symptoms. Some people have these attacks very rarely. But for others, they can occur frequently and severely.

Why is AHP diagnosis so difficult?

Now you may be wondering why this disease is so difficult to diagnose. There are several main reasons for that.

1. This is a very rare disease.

AHP is a very rare disease . Usually, a doctor rarely encounters such a patient in his daily life. A doctor who sees hundreds or thousands of patients with common diseases such as fever, cold, diabetes, and blood pressure may not meet a single AHP patient in his entire career. So, even if the symptoms are a little strange, a doctor's mind will not immediately turn to such a rare disease.

2. Symptoms are similar to other common illnesses

This is the biggest challenge. The symptoms of AHP are very similar to the symptoms of many other common illnesses. Think of severe stomach pain, nausea, vomiting, back pain, fatigue, and anxiety. What illness comes to mind when you hear these words?

• It could be gastritis.
• It could be appendicitis.
• If you are a woman, it could be a gynecological problem like endometriosis.
• There may be another problem with the digestive system.
• It could also be caused by stress.

AHP symptoms overlap with many other common illnesses. Therefore, a doctor will first try to treat these common illnesses. AHP is often considered last.

The table below shows you what other medical conditions are often associated with AHP.

3. Symptoms seem unrelated

Another characteristic of AHP is that the symptoms may seem unrelated. For example, a patient may experience severe stomach pain along with symptoms such as anxiety, confusion, numbness in the limbs, and rapid heartbeat. These symptoms may seem like symptoms of a number of unrelated illnesses, making it difficult to attribute them all to a single illness.

What are the risks of delayed diagnosis?

AHP can lead to serious complications if not diagnosed correctly. Sometimes, this condition can even be life-threatening . Also, due to incorrect diagnoses, unnecessary surgeries and prolonged use of the wrong medication may occur. Therefore, if you have symptoms that have been present for a long time and cannot be found, it is very important to take care of them.

So what do we do?

We don't have to be helpless in a situation like this. There are things we can do.

• Keep a journal of your symptoms: Get a book and write down how your symptoms are occurring. When does the pain start? How long has it been going on? What is the nature of the pain? What else do you feel at the time? Does it come after eating or drinking? Does it get worse or worse when you do something? This kind of information will help your doctor make a diagnosis.
• Talk openly with your doctor: Tell your doctor about all your symptoms, no matter how minor. Tell him how you feel, what your fears are, and whether anyone in your family has had these symptoms.
• Advocate for yourself: If the treatment you receive is not working and you still can't figure out what's wrong, tell your doctor . Don't be afraid to ask, "Doctor, I'm still having trouble, should we do some more testing?" You may even want to ask for a referral to a specialist.

Urine, blood, and genetic tests can be done to confirm AHP. So, if your doctor has any doubts about this, they can refer you for the appropriate tests.