Pain, suffering and fear - What is the 'Armenian' genetic disease?

Mariam Samvelyan

‘Armenian’ disease or ‘Yerevani’ and ‘periodic’ disease is how people usually refer to an illness that, in medicine, is referred to as Familial Mediterranean fever. This condition is transmitted genetically, is incurable, and requires lifelong prophylactic treatment.

FMF is found in representatives of nationalities whose ancestors lived in the Mediterranean countries – hence its name. These are mainly Armenians, Jews, Turks, and Arabs.

The first signs of disease usually become noticeable before the age of 20, and in 50% of patients, the disease manifests itself before the age of 10.

In Armenia, few people admit that they have such a problem. In particular, unmarried girls do not like to talk about this, because “who will marry us then?” There is no exact statistics on how many patients suffer from this condition in the country.

More about the disease in the words of medical practitioners and patients who suffer from it.

“The pain is just paralyzing”

“I know that I will soon have an attack, I know it in advance – a few hours before it my temperature rises, nausea and aching pain in the abdomen appear. Moreover, an attack always occurs very unexpectedly: I can just sit and suddenly feel that everything will begin soon. After a while I am already in bed with acute pains.

During an attack, it seems that from the inside, something is simultaneously pressing hard and twisting all the internal organs in the stomach and intestines area. The pain is so severe that I cannot walk on my own. On the next day, the pain moves to the chest. One of the most unpleasant components of the disease is that I can only lie on my back, do not move and practically do not breathe, the pain is simply paralyzing. Everything subsides on the third day, and on the fourth, I become a normal person again – until the next attack”, Karina describes the symptoms that she has to endure from time to time.

Characteristics of the disease

Familial Mediterranean fever is caused by a mutation in the MEFV gene.

The disease is transmitted mainly through an autosomal recessive mode of inheritance, says Tamara Sargsyan, a geneticist, head of the Center for Medical Genetics. This means that both parents, even if they are healthy, are carriers of the MEFV gene.

The disease manifests itself throughout life with varying intensity, and the frequency of attacks usually stands at once a month and lasts for to one to four days.

During this period, there is a fever, acute pain in the abdomen, chest and joints but during the intervals between attacks, patients feel absolutely healthy.

One of the features of the disease is that sometimes these symptoms, even in the same patient, can manifest themselves in a mild form. Because of this, they are often mistaken for common indigestion. This makes FMF difficult to diagnose.

Does colchicine cure it?

According to Tamara Sargsyan, since 1972 a new era has begun in the treatment of FMF patients with the colchicine drug. Before that, 25-50% of patients died and the cause was a violation of protein metabolism in the kidneys.

Now, after the necessary tests, the patient is prescribed life-long use of colchicine.

It cannot cure the patient, the drug only gives the opportunity to live a normal life – as much as possible.

Studies have shown that with the correct medication, seizures disappear in about 60% of patients, a partial effect is achieved in 30% of cases, and treatment is ineffective for only 5-10%.

‘Armenian’ disease

The first information about the periodic inflammatory syndrome among Armenians was found in the manuscripts of the 12th century.

According to geneticist Tamara Sargsyan, from 1997 to 2021, more than 45,000 people were examined:

“Of these, the diagnosis was confirmed in 24,433 cases. The rest are healthy carriers of one mutation or are family members of patients”.

The unofficial names of “Armenian” and “Yerevan” disease appeared due to false information about it. People thought that if they left Yerevan or the country, the seizures might stop.

But over time, this myth was dispelled: there are no special differences in the symptoms of the disease among Armenians living in other countries.

Over time, people have learned more about the disease and have become less afraid and shy of it, but there are still patients who want to hide their diagnosis.

“I didn’t want to talk about, I as the wedding would have been canceled”

Anahit got married a year ago and now lives in the city of Hrazdan, 45 kilometers from the capital. She had known for a long time that she had a “periodic illness”:

“Since 17 I have been suffering from seizures. I was taking colchicine for as long as I remember, however, it did not help much. Now attacks happen as well, but at least not as often”.

Anahit is now 30 years old. She has acute attacks for two or three days every one or two months. When she got married, she decided not to tell the groom about her illness:

“Mom also always said that if I did tellhi,, the wedding would be canceled. This is how we live”.

Anahit often explains her attacks to her husband by catching a cold since the symptoms are almost the same. Yet recently her “little lie” was exposed by her mother-in-law:

“She found colchicine in my room and immediately understood why I was taking it. It was an unpleasant situation”.

Nevertheless, Anahit is not going to tell her husband about her illness yet.

“He said he would support me.”

Several years ago, Karina was also diagnosed with familial Mediterranean fever. The girl was born and raised in Russia.

“While I was living there, with every attack the doctors shrugged their shoulders, not knowing what I was suffering from. Moreover, during one of these attacks, they even cut out my appendicitis. I suspect, in vain”, she says.

Karina guessed that she might have this disease:

“I was 17 years old when I learned that my grandfather on my mother’s side had a periodic illness. By the way, he is already over 70, and he never took colchicine. Now he has kidney problems”.

Later, when Karina moved to Armenia, she passed a genetic analysis and confirmed her suspicions:

“Though I suspected it, it was very unexpected. I burst into tears right in the doctor’s office. To find out that your seizures are due to an incurable disease and that you will now have to take medicine for the rest of your life is not great news”.

Now, Karina says that life is divided into “before” and “after” colchicine. She keeps the medicine wherever possible – at work, in bags, in the car:

“I used to not take it properly – I could miss it for days. As a result, the attacks became more frequent. Now I try to diligently follow all the doctor’s instructions. I don’t want to have kidney problems at the age of 70, like my grandfather”.

Karina has been married for two years. She told her husband about her illness long before the wedding:

“I, of course, understood how this could turn out. In Armenia, people are divided into two types. Some understand that illness is not a sentence and that it is not worth ruining life for this. Others treat girls like a commodity – as long as it is not “defective”. I know many stories of when marriages that broke up because of this.

I had no doubts about whether I should tell him or not. At first, he reacted calmly and said that it was just a disease. After some time, he called and said that he wanted to have healthy children and could not take such risks. We broke up. But a few days later he called again and said that he had thought everything over and would support me. It was difficult. But, probably, such a reaction was normal. In the end, even I found it hard to come to terms with it”.

With this disease, according to Karina, the most important thing is to be constantly monitored by doctors. She goes to the appointments with her husband:

“This way I feel his support more strongly. I know many patients who, like me, feel a little more vulnerable than others. It seems to us that this disease and colchicine in our pocket make us worse, weaker. People like me need to be convinced that we can live a normal life, like everyone elese”.