Israel Sánchez/ Agencia Reforma
martes, 25 april 2023 | twenty past six
Accustomed to running 9 kilometers twice a week along the wall of the beach in San Lorenzo de Gijón, in Spain, José Manuel Pérez Díaz took him by surprise who immediately started to drown
Such a lack of air and an increasingly greater fatigue preluded an illness so little common, that the septuagenarian retired Spanish man had to go through several consultants and studios to find out what was causing his physical condition.
“Ni my woman, who is a nurse, no one knew what was going on. The uncertainty is the worst”, shared Pérez Díaz, a well-known voice in favor of the awareness of the one who, after several general practitioners, a neurologist and some cardiologists , finally the diagnosis was made: amyloidosis.
“When after many trials I finally received the diagnosis and they told me that what I had was amyloidosis and that there was no cure, it scared me. I was afraid to think that my life would never be the same, that I couldn’t lead a normal life and do it things I enjoyed before, like going out running, going to the mountains or being with my family, coming to grow up with my children”, write in a petition on Change.org so that the authorities of your country finance a medicine for this ailment.
A fear that is too justified, because this disease is part of those denominated as rare, whose prevalence is very low, appearing in less than five people per 10 thousand inhabitants, “unfortunately its mortality is very high”, warns doctor Kena Pastrana, Medical Rare Disease Portfolio Manager for Pfizer Mexico.
The high risk is that the root of this affliction is the accumulation in the organs of a protein called amyloid, which can make it not work properly.
“This pathology is secondary to the accumulation of a protein, which is the amyloid, which takes hold and infiltrates into various organs and systems. Such things could be the liver, the kidney, the intestine, the nervous system and, of course, the heart “, details Pastrana in a telephone interview.
These proteins form lines of rigid fibrils, like strands of twisted plastic, very hard and difficult to break, whose accumulation in the organs forms a plaque, which the Fundación de Familias con Amiloidosis en México (FFAM) compares with the lime deposits in the bottom of an electric heater.
“This means that, for example, if the wall of the heart is 11 millimeters, mine is 19 millimeters. So, the thickness of the wall continues to increase until the heart stops working”, explains Pérez Díaz.
“The heart is one of the organs that end up being very affected; almost 40, 45 percent of patients with amyloidosis have cardiac amyloidosis”, says Pastrana. “Today we know that cardiac amyloidosis is one of the causes of heart failure that it is important to recognize because there is a need to provide specific treatment for it”.
If there are different types of amyloidosis, in some the main precursor is transthyretin (TTR), a type of amyloid that is produced in the liver and that is made up of four molecules.
“What happens in amyloidosis or what will generate the disease is that these four molecules dissociate; instead of being stuck together, they dissociate and four different molecules are formed, and they form like hairs. And these hairs are the ones that se caught and infiltrated”, refrenda the specialist in rare diseases of Pfizer Mexico.
“And, specifically in the heart, it makes you have a heart like fat, a heavy heart, one that anatomically and physiologically is affected. This anatomy makes that there is, then, the presence of heart failure”.
This is why some types of amyloidosis, such as immunoglobulin light chains, require treatment with chemotherapy, for which the main factor is transthyretin if an attempt is made to stabilize the molecule so that it does not divide and thus avoid its infiltration into the organs.
“Pfizer has a unique stabilizer drug in the world, the only one that currently exists on the market, and we hope that it will reach Mexico by the middle of this year. We have the fortune that the drug has already been approved by Cofepris, and we are hoping that is in Mexico around June”, shares Pastrana.
Will it go to the public health system or to the private market?
Start on the private channel. The process for the Consejo de Salubridad General to approve products at your basic level is a process that takes a little more time. But of course we are also working to make it happen.
If amyloidosis is a disease without cure, as reported to Pérez Díaz, what a medicine as he described does is contribute to the progression of the pathology.
“And that’s why it’s very important to get to early diagnoses. If we get to this diagnosis sooner, this patient will have less systemic and specifically cardiac damage. If we manage to stop it when the patient does not have heart failure, it can be a wonder”, points Pastrana.
Unfortunately, when presenting a series of signs and symptoms similar to those of other conditions, such as diabetes, hypertension or ischemic heart disease, patients consult on average four specialists before receiving a definitive diagnosis of amyloidosis, exposes the FFAM.
“You were very successful in getting an immediate diagnosis, but there are people who delay up to five years in diagnosing their amyloidosis. And that loss of time can make the deterioration become unsalvable”, predicts Pérez Díaz, whose petition en Change .org has more than 122,000 signatures.
“We have to make it very evident, we have to help make it visible so that each one of the doctors who are dedicated to heart failure puts amyloidosis on their minds as one of the causes of it”, exhorts, in turn, Pastrana , insisting on the need to attend medical appointments frequently.
“Regardless of whether we think we’re fine, because that’s also what happens a lot in our society: ‘No, I’m fine’, the typical ‘Sometimes I’m in the sea’ or ‘Sometimes I feel that my heart is palpitating, but that’s normal ‘; pues no lo es. Definitely, hay that help the doctor to constant revisions “, concluded the doctora.
warning signs
The symptoms that accompany amyloidosis can vary depending on the organs affected. Some can be:
-Intense fatigue and weakness
-lack of air
-Swelling, tingling or pain in hands or feet
-Hinchazón de los tobillos y las piernas
-Diarrhea, possibly with blood, or narrowing
– Enlarged tongue that, on occasions, can show ripples on the edges
-Changes on the skin, such as thickening or dark spots that appear easily, and purple spots around the eyes
