Doctor Andrade published the first article based on studies with patients over a period of 12 yearscollecting information that details the symptoms that we know today. Furthermore, he described how the affected people accumulate this abnormal substance in various parts of the body, producing over the years a mixed and progressive neuropathy that alters the functioning of the nerves.
Hereditary Transthyretin Amyloidosis is a Rare Disease (EPOF) and little known. EPOF affects a number small number of people in a population determined and vary by country or region. The biggest challenge is to achieve a accurate diagnosis, which can take between 5 and 10 years, requiring up to eight visits to different specialists. It is estimated that more than four out of ten people receive at least one misdiagnosis during the process.
TTR (Transthyretin) is a protein synthesized and secreted mainly by the liver. Its main function is to transport thyroid hormone (T4) and vitamin A. However, when genetic mutations occur, the structure of this protein is altered. These mutations cause TTR to fold differently. abnormal forming insoluble amyloid fibrils. These fibrils accumulate in the organs and tissues of the body, which can lead to various complications and diseases, such as Hereditary Transthyretin Amyloidosis.
Symptoms are nonspecific
The main obstacle to diagnosing Hereditary Transthyretin Amyloidosis is that Its symptoms are nonspecific. Some of the most common include dizziness, diarrhea, constipation, difficulty walking, and tingling in the legs. The clinical condition usually appears around 30 years old or even after 60 in some phenotypes. The defective protein affects the body slowly, so the first symptoms may appear up to 20 years before a clearer manifestation of the hATTR. Amyloid deposit is generated slowly, so The first symptoms do not appear until adulthood.
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The main obstacle to diagnosing Hereditary Transthyretin Amyloidosis is that its symptoms are nonspecific.
Within Hereditary Amyloidosis due to TTR, the neurological presentation known as Familial Amyloidotic Polyneuropathy. The name “polyneuropathy” suggests a disease that affects many nervesand “Amyloidotic” indicates the damage associated with the deposition of protein fibers called amyloidswhich impact the structure and function of the affected tissues.
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The symptomatology heterogeneous and little dissemination of information about this disease make patients go through up to five specialists before being diagnosed correctly, resulting in a long time without proper care and increased development of the condition, deepening the symptoms and deteriorating the quality of life.
The alarm signals must light up at the appearance of a set of symptoms. The first is progressive sensory-motor neuropathy. Yes to this condition one or more of the following symptoms are addedit is advisable to consult a professional: early autonomic dysfunction (erectile dysfunction, orthostatic hypotension), gastrointestinal manifestations (chronic diarrhea, alternating between constipation and diarrhea), unintentional weight loss, cardiac hypertrophy, arrhythmias, ventricular blocks or cardiomyopathybilateral carpal tunnel syndrome, renal failure (proteinuria or mild azotemia) and vitreous opacities.
Interdisciplinary approach
For the proper treatment of hATTR Early diagnosis is important. The first thing that is done when a patient arrives is a good physical examination. If you have symptoms in the lower limbs, An electromyogram is one of the most important studies, along with echocardiogram (ultrasound of the heart) and, if the clinical manifestations warrant it, a tilt test (put the patient on a stretcher and change positions to see how your cardiovascular system reacts). Depending on the symptoms, you can investigate other tissues and organs.
Making a correct diagnosis is vital in determining prognosis and receiving appropriate care as fast as possible. The groups of clinical symptoms mentioned should raise suspicion of the disease, especially if there is a positive family history, considering that It is a hereditary disease.
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Hereditary Transthyretin Amyloidosis is a rare, hereditary and progressive disease that affects the nervous system.
If there is suspicion, confirmation pathology of amyloid deposit and genetic diagnosis are highly recommended. Additionally, additional research such as evaluations neurological, cardiac, autonomic and ophthalmological can provide more security for get the correct diagnosis.
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Another crucial point is genetic testing, to confirm the diagnosis of the disease, especially in patients with a family history or with a set of symptoms that represent warning signs. In families with a known mutation, direct genetic tests for that mutation. When the mutation is unknown or there is no family history, testing should be performed. Complete sequencing of the TTR gene to identify the genetic variant correspondent
Doctor Esteban Calabrese, specialist in Amyloidosis, understands that “it is an opportunity for both patients, people who do not know their diagnosis and health professionals can be informed and know that there are interdisciplinary medical teams, both in Rosario and in other centers in the interior of the country, that They know rare diseases, they work on them, they can treat them and they can accompany patients throughout this journey, in many cases until reaching the diagnosis.”
