In Paraguay there is no statistical record of cases of amyloidosis, but specialists from the Paraguayan Society of Neurology affirm that the hereditary disease is expanding in the population. In the note we tell you what you should know about this genetic disease.
By ABC Color
October 30, 2024 – 17:07
October 26, 2024 was stipulated as the first World Amyloidosis Dayin order to raise awareness among the population about this hereditary disease and provide valuable information to facilitate diagnostics y treatments innovative.
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The hereditary amyloidosis It is a disease that can become devastatingso the early diagnosis It is essential, explain medical specialists from the Paraguayan Society of Neurology and the Neurology Service of the Social Security Institute (IPS)made up of doctors Tania Caballero, Victor Ojeda y Martin Dominguez.
Experts highlight that amyloidosis is a group of rare diseases caused by accumulation of abnormal proteins called amyloids in various tissues and organs of the body.
Víctor Ojeda, Tania Caballero and Martín Domínguez, specialists from the Paraguayan Society of Neurology.
“Some forms of this disease are inherited. There are several forms of this disease, but the two most common are familial amyloidotic polyneuropathy (hATTR-PN), which affects peripheral nerves; and the amyloid cardiomyopathy, that affects the heart,” say the specialists.
Amyloidosis: symptoms of the genetic disease
According to doctors, the symptoms vary depending on which parts of the body are affected by the disease. They generally include: muscle weakness, sensory problems e heart failure.
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“Although in Paraguay there is no statistical record of cases, it is estimated that the potential of this disease will expand due to the geographic location which places it between two territories with a large volume of patients, which are Brazil and Chaco (Argentina),” say the doctors.
Heart failure is a symptom of amyloidosis.
In our country – the experts explain – the referral hospital for the management of suspected cases is the IPS, which has an area of neuromuscular diseases -the only one in the country- and has professionals focused on the diagnosis and management of diseases of the peripheral nervous system.
It is clarified, however, that in any hospital center where the patient can be treated by a member of the Paraguayan Society of Neurology, it will be oriented for him diagnosis appropriate.
Difficulty of access to diagnosis, the main challenge of the disease
By being infrequent and with similar symptoms Like other common diseases, amyloidosis is often diagnosed incorrectly or too late. This can significantly reduce treatment options and patients’ quality of life, experts say.
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“Early diagnosis is key, since it is a progressive disease and the damage it causes is potentially irreversible. The diagnosis, first of all, requires a complete clinical examinationand may include auxiliary methods such as blood test, images, biopsy, neurophysiological studies like the electromyography and, specifically, in hereditary amyloidosis, a genetic test to detect the DNA mutation causing the disease,” the neurologists detailed.
From the Paraguayan Society of Neurology they affirm that the country has a genetic test to detect the mutation of the ADN. The medical examination can be accessed free at the IPS Central Hospital, as well as in other diagnostic centers in the country.
From the Paraguayan Society of Neurology they affirm that in Paraguay it is possible to perform the test to verify if there is a DNA mutation.
Despite being a progressive disease which can be serious, doctors indicate that there are treatments availablesuch as drugs designed to stabilize TTR protein or avoid its accumulation, in addition to therapies more advanced like gene silencing.
