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The haemolytic uraemic syndrome has an incidence of two cases per million inhabitants. His therapy, eculuzimab, worth 300,000 euros a year. It is one of the most expensive drugs in the world, hindering the treatment of a disease already ultra rare.
“It was like falling into a well.” Describes Francisco Monfort , president of the Hemolytic Uremic Syndrome Association (ASHUA) the situation who lived with her son a decade ago. The boy, who was only three years old, went from being sick to your kidneys completely paralyzed. In that September 2006, although neither family nor doctors knew little suffered the first outbreak of ultra rare disease. And is that under the name HUS (HUS), a condition whose incidence is two cases per million inhabitants is hidden.
The small number of patients in everyone has hampered their investigation much. Nevertheless, Spain, along with Britain and Italy, has positioned itself as one of the reference countries in the study of HUS, included in the list of rare diseases . The disease occurs because “our immune system does not distinguish the endothelial cells, the damaged and thrombi form,” he told Hipertextual Dr. Santiago Rodríguez de Córdoba , researcher at the Center for Biological Research (CIB-CSIC). Somehow, our defenses destroy these endothelial cells, which are the walls of the “pipe” formed by blood vessels. As a result, the kidney is the organ most commonly affected, although hemolytic uremic syndrome can also attack other as the brain, liver, the heart, lungs or gastrointestinal system.
When our defenses attack us
Dr. Margarita Lopez Trascasa , a specialist in immunology at University Hospital La Paz, says it is the alternative pathway of the complement system which undergoes deregulation in the development of HUS . This mechanism complement “is a set of proteins innate immune system cascade operation,” says the expert to this medium. The complement system is critical in the response that carries out the body against the attack of a foreign agent, for example, pathogenic bacteria. Its objective is to lyse or “break” to microbes, literally. To this must recognize the outside and cause it to “explode”. The problem comes when this system complement the wrong outer surface. In that case, instead of breaking the bacteria that infect us, will create “holes” in the walls of blood vessels. It is what happens in hemolytic uremic syndrome.
The disease is caused by failures in the complement system, a defense mechanism against foreign agents such as bacteria “from the genetic point of view we are facing a complex disease,” said Rodriguez de Córdoba. Today science has been determined between eight ten candidate genes that increase the predisposition to hemolytic uremic syndrome. “These are genes encoding regulatory proteins of the complement system,” explains the researcher. However, the environment plays a key role in the onset of this disorder, which manifests with acute outbreaks such as the son of Francisco Monfort suffered. “A disease acquired factors also contribute, such as autoantibodies, and environmental factors, which act as triggers” of genetic predisposition to have an individual. An infection or a specific pharmacotherapy, for example, can activate the complement system. Then the person “is not able to differentiate a pathogen from its own tissue and attacks them,” said Rodriguez de Córdoba.
“What fails in patients is a shield that protects its own components from accidental damage by the immune system,” explains the scientist. In other words, “does not need an umbrella when it does not rain, but if you have no umbrella and it rains, you get wet” , says researcher CIB-CSIC Hipertextual . People with HUS have “genetic defects that prevent them protect themselves from their own immune system.” To certain external triggers factors still not well known, the complement system attacks the walls of blood vessels. “Once we had the case of a ten year old boy who lost the kidney after a basketball game. It featured a mutation in the factor H , one of the errors in DNA that is associated with the most complicated episodes of this disease- and underwent dialysis. He received a kidney transplant donated by his father, and lost the second body at 24 hours “he explains Lopez Trascasa, which also emphasizes that it is a little predictable disorder.
hemolytic uremic syndrome is a systemic disease, which affects the whole body, although its main target are the kidneys “the debut of the syndrome is very aggressive,” says Monfort. “In a short time you spend to have a child jumping and running to be in the ICU and do not know how it will end,” he explains. His son lost kidney function completely, which caused a totally uncontrolled hypertension. It is noteworthy that the HUS attack so as fulminant kidneys . “They filter impurities that carries blood,” says the president of ASHUA. “It is a target organ in many other diseases,” added the immunologist at University Hospital La Paz. But it is not the only one affected by this disease. “If one looks endothelial damage in other organs is,” explains Rodríguez de Córdoba. In other manifestations associated with hemolytic uremic syndrome, researchers have also observed neurological involvement or heart problems such as heart disease. They are the other side of the same coin. The disease “is a kind of self-harm” describes the CIB-CSIC scientist. Self-harm that destroys the walls of blood vessels to go slowly damaging the entire organism. First the kidneys, then the rest of the body.
Spain leads the syndromic management
“The disease in recent years has changed a lot” in the words of Francisco Monfort. He and his family know firsthand. In Christmas 2006, and the impossibility of controlling hypertension who suffered from his son, the doctors decided to extirpate the two kidneys. “With just three years was very difficult to make the dialysis and entered remain many days,” says this medium. “After five months in the hospital, we returned home but always returning to dialysis. A few months later confirmed that there was no treatment for the disease. The child should remain on dialysis for an indefinite period. There was talk of years, but not knew, “says the other side of the phone.
the eculuzimab, sold under the name Soliris, was authorized in Spain for five old ” As parents desconfiáramos is that the words of the doctors, but we needed to know more, “he says. So they traveled to Bergamo (Italy), where it was Giuseppe Remuzzi , one of the leading specialists in HUS. “It was very attentive and human. We spent almost two hours to explain in detail what the disease was. At the end of the meeting gave us to understand that in a few years, possibly have a solution,” he says. It was 2007, the year in which the Agencia European Medicines concluded its first positive study on the eculuzimab , a monoclonal antibody directed to curb the hemólisis or destruction of red blood cells. Anemia caused by the destruction was just another symptom of HUS. The long-awaited drug for this condition was getting closer.
Remuzzi was precisely that he contacted Monfort with Rodriguez de Córdoba and other specialists of our country. “Health professionals in Spain are leading the management of the syndrome,” says the president of ASHUA. Three years after that encounter, the family of Francis received the most awaited call. “In 2010 we proposed a kidney transplant combined with eculuzimab” he says. In September, just four years after his son suffered the first outbreak was transplanted. Doctors also gave the drug Soliris the child for compassionate use. A year later, the Spanish Agency for Medicines and Health Products authorized the use of eculuzimab in our country. “Two years after the operation returned joy to the family. To date, the transplant worked perfectly and the drug has slowed outbreaks” he explains. That was when, a little more relaxed, began to meet other patients. “We were forced to create the association to return the aid received,” he says. Thus was born ASHUA, which estimated that in Spain between 400 and 500 well-diagnosed patients. The organization also maintains contact today with other entities of patients in Europe, Australia and America.
An expensive treatment “lifesaving”
His fight, however, has not finished. “We are aware of cases that have not had access to treatment by the crisis,” complains Monfort. The eculuzimab is an expensive drug, with costs of around 300,000 euros per year . “It is high impact, as politicians say, but it saves lives,” says the president of ASHUA. Its price is one of the challenges cited Trascasa Lopez, who also stresses that in the future will be critical control outbreaks of the syndrome. According Monfort, the association “has seen nephrologists are under pressure to reduce drug costs, but [politicians] do not contemplate that reduce costs of a drug can increase the other hand spending beds in nephrology”. The president of the organization is very critical in this regard. “There is pressure for the use of this drug is reduced.” Monfort explains the paradox is not new. Tribunal Superior of Justice of Galicia already ruled in 2013 that in relation to the administration of drugs such as eculuzimab, medical judgment should prevail against the economic. The Galician regional government had denied this therapy to a patient affected by other ultra rare disease paroxysmal nocturnal hemoglobinuria’s, which can also be treated with this medicine. The ruling specifically saying the guarantee and protection of the right to health had “a singular importance within the constitutional framework, which can not be affected by the mere consideration of a possible economic savings.”
“There is pressure for the use of this drug is reduced,” complains the president of the association of patients ASHUA also committed to research to address the syndrome haemolytic uraemic. The association participated in a campaign led by the Spanish Foundation for Science and Technology (FECYT) and ALSA , in which each person were buying a bus ticket could donate one euro for each acquisition. “The ceiling was set at 10,000 euros, but in the end we reached the 20,000” celebrates Monfort. dinero raised went to the lab Rodriguez Córdoba, in charge of making genetic diagnosis of the disease in Spain. DNA tests “are critical to prevention,” explains the president of ASHUA. These genetic tests are borne by the public health though not always the case. “We have a case of a patient of Tarragona in which the relatives have paid the analysis because their doctor said not done,” complains Monfort.
As explained Hipertextual Rodriguez de Córdoba, “the molecular genetic diagnosis is performed whenever there is clinical diagnosis.” “We try to meet the etiological factor, ie, the cause of the disease,” he says. But it is not always possible. “In 40% of patients, the studies do not identify a culprit,” says the expert. This may be because there are additional genes that have not been determined yet or secondary causes that are confusing to the physician in diagnosis. DNA tests are performed by Secugen , a biotechnology company that was born into CIB-CSIC. His group also performs a patient registry associated with biobank samples, which is among the largest in the world. The genetic study allows not only “predict the evolution,” but also offers “advantages for genetic counseling”, in the opinion of Rodriguez de Córdoba
DNA sequencing, however,” should not condition treatment because the HUS, the sooner you start treatment, the faster problems like saving kidneys avoid “explains . What is clear is that the molecular genetic diagnosis is essential for the personalized medicine . In the future, we will be able to identify the causes and, accordingly, individualize therapy. Something that seemed impossible when the son of Francisco suffered the first outbreak a decade ago. Science advances, and saves lives.
April 6, 2016