Doctors present protocol for rare and deadly disease, still underreported in Brazil

“The Laboratory of Thrombohemorrhagic Diseases” was the theme of the 54th Brazilian Congress of Clinical Pathology/Laboratory Medicine (CBPC/ML), presented on October 6. Thrombotic microangiopathy (TMA) is a group of diseases characterized by thrombus formation in the microvasculature and microangiopathic hemolytic anemia. The most common forms, thrombotic thrombocytopenic purpura (TTP) and hemolytic-uremic syndrome, are acute, fulminant illnesses caused by ADAMST 13 metalloprotease deficiency. This deficiency, in turn, compromises blood microcirculation and can affect organs such as kidneys, heart and brain at the same time.

The alert for the disease can come from the analysis of a simple blood count, as exposed in the conference “Laboratory and Thrombotic Microangiopathy” at the 54th Congress promoted by the Brazilian Society of Clinical Pathology, with the participation of Professor of Medicine João Carlos de Campos Guerra, specialist in hematology and Dr. Christiane Gouvea, hematologist specialized in hemostasis and thrombosis.

“Once the possibility of an ADAMST13 deficiency has been identified, the patient is referred for specific tests. We have an already organized protocol that includes accurate diagnosis, through specific laboratory tests and highly effective drugs, already approved in Brazil, such as Rituximab, Caplacizumab; associated with the therapeutic plasmapheresis procedure.

“What we need is to work to expand the population’s access to accurate and rapid diagnosis and appropriate treatment, using ‘Pathways’ and innovative tools to identify suspected cases”, as defends Dr. Guerra, who also warns about the prevalence of the disease, which is 2 to 4 cases per million inhabitants, therefore, the expected in Brazil would be that approximately 200 to 400 new cases are known per year, but even without statistics, we can say that the country is very far from the expected notification. An updated dossier of the Brazilian case of these diseases is organized by Professor Fernanda Orsi, from the University of Campinas, Unicamp.

Monkeypox: what do we know so far?

The conference “Monkey pox: what do we know so far?” was given on October 6 at the 54th Brazilian Congress of Clinical Pathology/Laboratory Medicine (CBPC/ML) by Drs. André Mario Doi, director of education at the Brazilian Society of Clinical Pathology/Laboratory Medicine (SBPC/ML), Roberta Sitnik, member of the Molecular Pathology Association (AMP) and specialist at the Israelita Albert Hospital Laboratory Einstein; the clinical pathologist Paulo Paixão, representative of the Portuguese Society of Clinical Pathology (SPPC) and the infectiologist Sérgio Beduschi.

Dr. Roberta Sitnik started the presentation with a brief introduction about the virus, the collection of material for the correct diagnosis and the available laboratory tests, Dr. Paulo Paixão spoke about his experience in Portugal, one of the first affected countries by the epidemic and Dr. Sérgio Beduschi spoke about the clinical aspects of the disease and the perspectives on the future of the epidemic.

They explained that in May 2022, the World Health Organization (WHO) reported cases of smallpox in several countries, first in Europe and then in several regions of the world. Since then, Brazil has confirmed around 10,000 cases, being the third country in the world with the highest incidence.

This virus was discovered in 1958 when two smallpox-like outbreaks were identified in research colonies of monkeys (hence the name Monkeypox). The first report of infection in humans was reported in 1970 in the Democratic Republic of Congo and since then it has been reported sporadically in Central and West African countries. However, the natural reservoir of smallpox remains unknown.

Faced with this worrying scenario and the potential for transmissibility in the population, it is essential that public health measures are taken to reduce the spread. One of them is the early diagnosis of affected patients to break the chain of transmission.

Conference discusses the importance of disease diagnosis

On Thursday (6), the importance of diagnosing rare diseases was discussed at the 54th Brazilian Congress of Clinical Pathology/Laboratory Medicine (CBPC/ML).

The conference “The expertise of clinical laboratories for the diagnosis of rare diseases” was chaired by Dr. Armando Alves da Fonseca – founder and current general manager of the DLE Laboratory (Specialized Laboratory Diagnosis), medical director of Personalized Medicine of the Group Pardini, former president, member of the board of directors and for more than 20 years he exercised the executive coordination of the Congresses of Clinical Pathology – and with the participation of Dr. Jacqueline Harouche Rodrigues da Fonseca – clinical pathologist, holder of an Executive MBA in health from UFRJ-COPPEAD, is executive director of the DLE laboratory and GC / MS analyst with a focus on urinary organic acids – and Dr. Wagner Antonio da Rosa Baratela – Doctor of Medicine with specialization in medical genetics of the Faculty of Medicine of the University of São Paulo, specialist in medical genetics of the Brazilian Society of Medical Genetics – SBGM, is genetic ian at the Santa Casa de Misericórdia in São Paulo and Coordinator of Medical and Molecular Genetics at the Fleury Laboratory in São Paulo.

“The objective of the conference was to show the importance of the laboratory in the specialty of biochemistry or genetic biochemistry, in the molecular genetic part, in the case of next-generation sequencing and in the support of the doctor who suspects a patient suffering from rare diseases,” says Dr. Armand Fonseca.

The doctor pointed out that many patients suffer for years without having a diagnosis and that is why it is extremely important that the laboratories are prepared and trained to direct the person on the right path. Another point is that even the laboratories that have the necessary technologies for the diagnosis sometimes do not have the suspicion that it is a rare disease. Therefore, it is essential that clinicians and the laboratory communicate in order to help and indicate the testing, follow-up and treatment of patients with rare diseases.

“In the case of rare diseases, early diagnosis is essential because they can evolve rapidly, sometimes with fatal consequences, but always with harm to the patient,” he concludes.

The Brazilian Congress of Clinical Pathology/Laboratory Medicine takes place until Friday (7) at the CentroSul Centro de Convenções, in Florianópolis (SC). The event brings together an average of 4,200 participants, including delegates, visitors, speakers and exhibitors from Brazil, Latin America, the United States, Europe and Asia.

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