May the 26th, 2023 – KBC Zagreb (Rebro hospital) is set to become the centre for the treatment of a rare but very severe heart condition which is caused by the accumulation of transthyretin fibrils in the myocardium – Transthyretin amyloid cardiomyopathy or ATTR-CM.
As Poslovni Dnevnik writes, the Clinic for Diseases of the Heart and Blood Vessels at KBC Zagreb has now become the central place for the treatment of the aforementioned rare heart disease which is a cause of very restrictive cardiomyopathy. It is an unfortunately insufficiently studied disease that is still rarely diagnosed, which is why it is crucial to familiarise the general public, as well as healthcare professionals, with a disease in which late detection is one of the most common causes of very poor outcomes and commonly – death.
“Most people don’t even know that they’re living with this progressive, life-threatening disease. The average survival rates for untreated, late-detected symptomatic patients is 2.5 to 5 years from the diagnosis of the disease. For this reason, it’s extremely important to start on time with appropriate treatment that enables better outcomes for patients. This contributes to the reduction of mortality, stops the progression of the disease, reduces the number of hospitalisations and improves the quality of peoples lives,” explained Dr. Ivo Planinc, a specialist in cardiology at the Clinic for Diseases of the Heart and Blood Vessels at KBC Zagreb.
Just as the case has been until now, this disease can be diagnosed in all clinical hospital centres in Croatia – in Zagreb, Split, Rijeka and Osijek. It’s estimated that more than 100 people in the Republic of Croatia live with this rare heart disease, and those with the hereditary, rarer type of the disease most often come from Imotski and its surroundings, which makes this geographical area endemic for this particular disease of the heart.
ATTR-CM is a progressive disease caused by the misfolding of a protein called transthyretin, which is synthesised in the liver, causing the formation of harmful amyloid fibers. They are then deposited in the heart muscle, leading to damage and eventual heart failure. The misfolded protein can accumulate in the heart in the form of amyloid fibers, which stiffen the heart muscle and ultimately causes the heart to fail. There are two types of disease – hereditary, that is, genetically caused, and non-hereditary, the so-called wild or senile type of the disease.
Hereditary ATTR-CM can occur in a person’s 30s or 40s, and the non-hereditary form (wtATTR-CM), which is associated with aging, is much more common and mainly affects men over 60 years of age, and is manifested by symptoms of failure heart and heart rhythm disorders. Even years before the diagnosis of the disease, many sufferers will complain of numbness and weakness in the hands and arms, rapid fatigue, swelling of the legs and lack of air during exertion and lying down. The hereditary form (vATTR-CM) affects both sexes equally and is usually diagnosed when an individual is in their 40s, although symptoms of damage to the heart and nervous system may have begun many decades earlier. Close family members (parents, siblings, and children) of the person diagnosed sadly have a 50 percent chance of having the responsible gene mutation and going on to develop the disease themselves.
Life with this rare, progressive and life-threatening disease is characterised by numerous symptoms that overlap with the symptoms of various other diseases, such as rapid fatigue, an irregular heartbeat, shortness of breath, as well as symptoms of the involvement of numerous other organs and systems in the body, such as numbness of the hands and arms, pain or stiffness in the lower back and legs, gastrointestinal problems, diarrhoea, constipation, nausea, and other symptoms which may seem vague, unrelated or nothing of concern at first. Symptoms such as dizziness or fainting when getting up from a lying or sitting position, the inability to hold urine or the spontaneous rupture of the tendon of the biceps muscle in the arms may also occur. If people aren’t treated in a timely manner, these symptoms progress and significantly affect the quality of life, and patient outcomes are very, very poor.
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