Amyloidosis is a rare disease that ‘fools’ and leads to heart failure. In the case of the heart, if not early diagnosis, it can be fatal.
Amyloidosis remains a “insidious” and subdivided disease of our time, with the risk of even causing heart failure.
Recent “mapping” attempts, however, have revealed that Its hereditary form meets in Crete at high rates.
Amloidosis leads some proteins called amyloid fibrils to accumulate in vital organs such as the heart, kidneys and nerves and block their normal function.
In the case of the heart, unless early diagnosis is made, the disease can lead to heart failure and be fatal. Today, however, there are treatments that change the course of patients.
Amyloidosis in the scientific microscope
Although science has jumps in the study of amyloidosis, most patients in our country continue to live with the disease without knowing its true cause.
This was mentioned, speaking to iatropedia.grif. Professor of Cardiology at the Amitic Diagnosis and Therapy Unit of the Therapeutic Clinic of the NCSR, at Alexandra Hospital, Kimon Stamatelopoulos, on the sidelines of the Pan -European Cardiology Conference – ESC Congress 2025, August 29th.
As the scientist pointed out, the latest elements that have emerged from the study of the impact of the disease on the heart, presented at the conference by distinguished scientists from all over Europe, indicate the importance of early diagnosis, which is not always clear.
In Greece, the available data show that the diagnosis is significantly delayed: 1 in 4 patients reaches the specialist after first passing at least 5 different doctors and specialties.
“Amloidosis is a multi -systemic disease. It can start with symptoms that look insignificant or relating to other organs beyond the heart, and therefore the patient ends up wandering from specialty to specialty, without making the right diagnosis in time, “the professor stresses.
Crete: One of the first areas in the world in number number
In Crete, amyloidosis occurs more frequently due to specific genetic mutations that have been “inherited” in families for centuries, creating a particular map of epidemiology that is not found at the same frequency elsewhere.
“In Crete we have families with multiple incidents. This is a phenomenon related to the movement of populations in the past and has created a separate epidemiological map for our country, ”explains Stamatelopoulos.
A recent study showed that Crete has one of the highest rates of ATTR inherited amyloidosis in the world.
About 620,000 residents attended from 1993 to 2019, 30 people were diagnosed by 12 families, along with 5 asymptomatic carriers to their children.
The disease is due to three different genetic mutations, each with different symptoms and course, from neuropathy to young to heart disease in the elderly.
“In Crete some people have a ‘wrong gene’ that makes proteins that concentrate on organs and cause problems. The form of the disease changes, depending on which gene variant each has, ”commented Professor Stamatelopoulos.
Today it is estimated that worldwide are affected by over 400,000 people-related amyloid myocardial disease (ATTR-CM), while in Greece there are about 2,000 patients living with the disease, which may be significantly undervalued compared to the real.
It should be noted that the mortality rates of the disease are significantly higher than patients with other forms of heart failure. From the time of – usually delayed – the patient has average life time on average of 2 – 5 years.
The ‘silent’ symptoms that confuse
Amloidosis, however, does not only hit the heart. On the contrary, many times the cardiological image comes much later, when unfortunately, the disease has already progressed.
The first problems – before heart failure – may occur:
– In joints and tendons: waist pain, carpal tunnel syndrome, and even rupture of the arm biceps (the so -called Popeye’s Sign)
– in the nervous system: peripheral neuropathy with numbness or burning at the edges
– In orthopedic patients: Carpal tunnel syndrome, frequent shoulder or hips procedures, which eventually proves manifestations of the disease
– Rarely, eye problems: characteristic lesions detected by specialized ophthalmologist control
As the Cardiology Professor points out Kimon Stamatelopoulosthe fact that the disease is multi -systemic creates enormous obstacles to diagnosis:
“The patient can visit an orthopedist, neurologist or gastroenterologist, without anyone linking the points to amyloidosis. This is how valuable time is lost. The cardiologist on his own will hardly think about amyloidosis. If he does not work with the orthopedist or neurologist, the diagnosis will be lost. That is why all specialties are needed. We are talking about a disease that can start from the shoulder or hip and end up in the heart. The message is simple: to look a little further, “he says.
The monitoring of amyloidosis in Greece through HIDA algorithms
Despite the difficulties, progress in the diagnosis and treatment of amyloidosis is important.
The recording of incidents from special centers, such as the Center for Amyloidosis, the Therapeutic Clinic of the NCSR, as well as the Special Center for Athletes & Youth (EKKA) of the First University Cardiology Clinic at the Hippocrates Hospital, is assisted by the Hippocrates Hospital.
Also, in recent months another major innovation has been added, in collaboration with HIDA. When the doctor prescribes and records in the system specific combinations of diagnoses (ICD-10 codes), a “pop-up” message is activated that warns: “Check for possible amyloidosis”.
“This is the first time technology has been in daily clinical practice and indicates to the doctor a possible diagnosis that may not even have been in mind. This “bell” has already helped not to lose incidents. He pushes the doctor to read, to search, to send the patient to a special center, “says Stamatelopoulos.
At the same time, the first organized patient associations are recorded with the aim of informing and supporting those living with the disease. Networking with overseas centers and awareness campaigns raise the visibility of the problem.
Therapeutic options
ATTR-CM-type amyloidosis is caused by transthyretine breakdown (TTR), which leads to amyloid accumulation in the heart and therefore until a few years ago, the disease was also considered incurable in the overwhelming majority of patients, fatal. But today, thanks to new treatments, there is hope.
As mentioned in the conference, Bayer has an orally -administered treatment with Akramide treatment and almost completely (≥90%) stabilizes TTR. In this way it prevents the breakdown of the protein and slows the amyloid formation process.
Akomide, which has received circulation approval, shows that it can not only slow down the disease, but also bring about substantial improvements to patients, such as better cardiac function and decrease in NT-Probnp, as Frank Schoening, Global Product Team Lead For Cardiomyopathies told Bayer:
“Recent analyzes show us that Akramidis has the ability to change the course of ATTR-CM, improving indicators such as NT-Probnp and patients’ functional skills. This reinforces our commitment to proceed beyond the slowdown of the disease, to a real improvement in patients’ lives, “he said.
Tafamidis is also a treatment that has been released by Pfizer for years and has a mechanism similar to that of Akomidis. These treatments aim to stabilize TTR, preventing its breakdown and the subsequent amyloid accumulation in the heart.
They have proven effective in reducing mortality and cardiological hospitalization, and studies for RNA treatments that act at the gene level, or even treatments with monoclonal antibodies are underway.
“Until a few years ago our patients had no hope. Today we can give them years of life, good quality of everyday life and real perspective. Science has done its job, but now, doctors need to suspect and send patients in time for examinations and diagnosis, ”concludes Professor Stamatelopoulos.