The saga of the correct diagnosis, the fear and anxiety in the face of the evolution of the disease and the not always serene search for a treatment mark the trajectory of Brazilians with familial amyloid polyneuropathyknown by the acronym PAF-TTR and also by transthyretin-related hereditary amyloidosis with polyneuropathy.
The names seem strange to those who have never heard of them, but they are part of the difficult routine of patients and their family members who live with this disease. rare genetic disease. Shedding light on the condition – which represents and exemplifies so many less common, but no less important – health conditions, SEE HEALTH conducted a study with the participation of Brazilian Association of Paramyloidosis (ABPAR) and the support of Therapeutic PTC. THE look for heard from nearly 90 people, 85% of them patients and the rest parents or caregivers, from 13 states.
The disease occurs in individuals genetic alteration which causes the liver to produce a defective protein, transthyretin,” says neurogeneticist Marcondes França Jr., of State University of Campinas (Unicamp). “It becomes insoluble in the blood and eventually settles in the tissues. According to the patient, the disease begins with neurological symptoms, because it affects several nerves. This is the group we call with the acronym PAF,” he adds.
“The condition is multisystemic, but the main targets are the the nervous system It’s the heart», specifies the neurologist Wilson Marques Junior, professor at University of São Paulo (USP), in Ribeirão Preto. “In general, everything starts with a tingling or a feeling of burning on the soles of the feet. Then you lose the sensitivity square. Over time, the manifestations reach the arms and hands, followed by muscle weakness and difficulty with balance,” he describes.
According to Liana Ferronato, president of ABPAR, it is estimated that there are around 3,000 Brazilians with PAF-TTR. The path to confirmation of the problem is one of the main complaints raised by the new study: 55% of respondents took at least a year to get the diagnosis and 30% had to see four or more doctors until the correct report was obtained.
“Out of suspicion, the usual thing is to carry out a genetic testby blood or saliva, which reveals the presence of the disease mutation”, explains França Jr. “If this test is still uncertain, a biopsy is carried out to detect the accumulation of TTR protein in certain tissues. But we we’re barely getting to that point today,” he adds.
Lack of knowledge of the pathology, including within the medical profession, is one of the factors limiting the search for or the indication of a specialist.
Path to treatment
Although there is a pilgrimage to diagnosis, 90% of patients and their family members feel that they have received satisfactory information about familial amyloid polyneuropathy at the time the disease was confirmed. But from that moment, many face obstacles to start the treatment — less than 30% of the sample started the treatment plan shortly after detection.
“Government delays in purchasing the only drug available for the disease in the public network are frequent or there are problems with distribution via high-cost pharmacies,” observes Liana. “The person has already come a long way until they have the diagnosis and then the right to the medicine and often they do not find it when they go to withdraw it. This generates an interruption of the treatment, which must be continuous, and increases the risk that the disease continues to progress”, explains the president of ABPAR.
In the past, the only approach to circumvent the PAF-TTR was to liver transplant — because the organ manufactures the defective proteins. To medications appeared in 2011, and today there are three types of drugs, one of which is provided by the SUS. “It binds to the defective protein so that it becomes more soluble and does not settle in the tissues. In other words, it is a transthyretin stabilizer, ideally indicated at the earliest stage of the disease,” explains França Jr.
The other two approved drugs work by reducing the production of the abnormal TTR in the liver. These are the mufflers, usually prescribed at later stages. Since they were not integrated into the public system, the situation of those who depend on them is even more complicated – as reported by 45% of respondents to the new survey.
Another barrier to assisting Brazilians with TTR-FAP is access to a team of healthcare professionals who help preserve quality of life as the disease progresses. In the study, more than 40% of the public said they were dissatisfied with the multidisciplinary treatmentr offered. “The rehabilitation of the disease requires physiotherapy, the use of orthoses, insoles, a cane…”, notes França Jr.
“Patients with neuropathy often have severe diarrhea and lose weight. A follow-up with a nutritionist is therefore essential. Not to mention the psychological support, so necessary for those who have a chronic degenerative disease,” he continues.
The Unicamp professor addresses a critical point documented by the survey: the emotional overload. For many patients and caregivers, anxiety and stress significantly disrupt routine, even more so than physical symptoms such as fatigue or disabling pain.
inheritance and reception
Like most rare diseases, genetic inheritance is a major factor in the emergence of TTR-FAP. Virtually all of the respondents have a close family member with the condition – the origin of which has already been traced to a region of Portugal.
“We are talking about an autosomal dominant disease. That is, if the person has a gene with the mutation, it can appear. And each child is born with a 50% chance of having it too,” explains Marques Junior. “But having this gene does not always mean that the individual will develop the disease. He can be an asymptomatic carrier and spend his whole life like this, ”explains the professor at USP de Ribeirão Preto.
Among the participants in the survey, 80% have children and 40% of them have not yet started the investigation to check whether their offspring are also carriers of the mutation. “O genetic counseling it is an important process that must be approached with caution. Tests are only done from the age of 18, and the doctor must guide and support decision-making, given the psychological impact of knowing that you may have the disease in the future,” summarizes Marques Junior.
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“Practice shows that in general, after having been sufficiently informed, patients and children end up deciding to carry out the investigation, especially since today we are in a scenario in which there are drugs capable to help. It is therefore possible to follow up and start treatment if the disease manifests itself”, explains França Jr.
Another considerable impact on the family of Brazilians with TTR-FAP is the financial. For more than 60% of respondents, this aspect materializes due to the interruption of the professional activities of the patient or who becomes his caregiver as the situation evolves, in addition to the need to hire people to help with care and drug expenses and travel for consultations.
Faced with these repercussions and unmet demands, 75% of respondents believe the country is not prepared to properly serve people with PAF-TTR, calling for improved assistance and agility of public health services. “It is one of the rare diseases for which there has been the most progress in terms of innovative therapies. On the other hand, we must expand early diagnosis and faster access to new drugs,” analyzes Professor Unicamp.
Building bridges and shortening paths are some of the reasons for the existence of entities that support families in the face of a rare disease, as is the case of ABPAR. It helps patients find specialists, referral centers and treatments. “It’s the support that makes the disease less mysterious and less difficult”, defends Liana.
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