Are you aware of this rare kidney disease? (Atypical Hemolytic Uremic Syndrome - aHUS)

Imagine blood clots forming inside the tiny blood vessels in your body. Especially in the blood vessels in your kidneys. When these blood clots block the flow of blood to your kidneys, serious problems like kidney failure can occur. That's what happens in Atypical Hemolytic Uremic Syndrome, or aHUS. Although there is no cure for this condition, it can be managed well with the right treatment.

What is the difference between "Typical" and "Atypical" HUS?

This condition, called aHUS, is a little different from the "Typical" HUS we usually see. The main cause of typical HUS is certain types of bacteria that cause diarrhea, for example, bacterial infections such as `(E. coli)` and `(Shigella)`. However, the cause of aHUS is more complex.

This disease, called aHUS, can occur at any age. In young children, it affects both boys and girls equally. However, as they get older, women are more likely to develop this disease. This is because pregnancy can be a trigger for the disease to appear. It is a very rare disease. Although it is not known exactly how many people have this disease, some studies suggest that only two in a million people in countries like the United States have this disease.

What causes aHUS?

Most aHUS cases are caused by a change in the genes, called a gene mutation . However, not everyone who has the gene mutation will develop the disease. For symptoms to appear, a trigger is needed.

Simply put, a person who is genetically predisposed to this disease can develop it if one of the following things happens:

• Pregnancy
• Certain infectious conditions
• Cancer
• Some medications
• An organ transplant
• Other chronic diseases, for example ``systemic sclerosis`` or ``malignant hypertension``

But sometimes, in about half of aHUS patients, doctors don't have a genetic mutation that they can find. We call these cases ``idiopathic.'' That means no cause can be found. Researchers believe that the condition is caused by a yet-to-be-identified genetic mutation.

What are the symptoms of aHUS?

Symptoms of aHUS usually appear suddenly after a trigger. These flare-ups can be mild or severe. In mild cases, the kidneys may not be affected much. In severe cases, they can lead to kidney failure.

In the early stages, you may notice symptoms like these:

• Extreme weakness and lifelessness
• Feeling generally unwell

This is a progressive disease. This means that symptoms get worse over time, especially if the disease is not detected early. Although the kidneys are the main target of aHUS, other organs such as the brain, liver, lungs, and heart can also be affected by blood vessel blockages.

How is aHUS diagnosed?

If no one in your family has had the disease before, it can be a little difficult to diagnose aHUS. A doctor who specializes in kidney diseases (nephrologist) or a doctor who specializes in blood diseases (hematologist) is best suited to diagnose it. They will mainly look for these three signs:

1. Hemolytic anemia

2. Decreased platelet count

3. Kidney function problems

Your doctor may order various tests to confirm this condition.

What are the treatment options?

There are two types of drugs approved by the FDA to treat aHUS.

• `Eculizumab (Soliris)`
• `Ravulizumab-cwcz (Ultomiris)`

Both of these drugs belong to a group called ``monoclonal antibodies.'' Simply put, these are special proteins made in the laboratory that act like antibodies that are naturally produced in our bodies. These drugs can increase the number of platelets and red blood cells in the blood. If this treatment is started early in the disease, it can even reverse kidney damage.

These medications are given as injections. However, they can cause side effects such as headache, fever, nausea, and body aches. Your doctor will inform you about these.

In addition, plasma therapy is also used to treat symptoms. In this, the patient is given plasma taken from a healthy person or the plasma is removed from the patient's blood and replaced with healthy plasma.

If the kidneys do not respond to these treatments, kidney dialysis or a kidney transplant may be necessary.

Situations when you need to go to a hospital immediately

If the following severe symptoms occur, immediately go to the Emergency Department (ETU) of the nearest hospital.

• Very low urine output.
• Confusion or loss of mental clarity.
• Severe swelling of the body.
• Difficulty breathing.

How to maintain mental health while living with the disease?

It's common to feel stressed and anxious when living with a chronic illness like aHUS. The more severe the illness and the more symptoms you have, the greater the impact on your mental health. But you don't have to face this alone.

• Talk to your family and friends: Sharing your thoughts and feelings with someone you trust can be a great relief.
• Talk to doctors and counselors: Talk to your doctor about this. They can refer you to a mental health counselor if necessary.
• Think about your overall health: Get enough sleep. Find ways to reduce stress. Eat a diet that's good for your kidneys. Get some exercise if you can. Being physically healthy also helps you stay mentally healthy.

Although this is a lifelong condition, with early diagnosis, proper treatment, and adherence to medical advice, you can manage the effects of this disease and live a normal life. So, stay in touch with your doctor and follow your treatment plan.

Atypical Hemolytic Uremic Syndrome, aHUS, Kidney Disease, Blood Clotting, Genetic Diseases, Anemia, Thrombocytopenia