In the month of April the disease of Fabry, as it seeks to raise awareness about one of the orphan diseases that have hereditary origins and because it has a low prevalence, patients can take between 13 and 16 years to be diagnosed.
To date, in Colombia there are at least 200 people diagnosed and being treated with Fabry, but this date can increase considerably if people who present symptoms from the beginning of the disease are included. Furthermore, globally, it is estimated that 1 in 40,000 people could suffer from Fabry.
Although making a diagnosis of Fabry is challenging, mainly due to the lack of knowledge of the pathologyalso because each case and symptoms are unique, but there are some that are an early warning and can indicate the presence of the disease.
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How does it present in children and adults?
In children, symptoms may present with burning chronic pain in the palms of the hands and soles of the feet, skin lesions, poor sweating when exercising.
On the other hand, in adults the manifestations of the disease can be reflected in other organs such as the brain, heart or kidneys, with symptoms ranging from arrhythmia, kidney failure, heart attack or even sudden death.
“I discovered that I had F.abry after a series of exams, due to my high blood pressure. I was diagnosed with heart disease and underwent tests that finally revealed the presence of Fabry,” says Ricardo Rincón, one of the patients of this disease in Colombia.
PUBLIMETRO COLOMBIA spoke with doctor Luis Ramón Barrospresident of the Colombian Association of Nephrology and Arterial Hypertension, who told us that this pathology became an orphan disease because its incidence and prevalence is very high.
“Since We are born with some symptoms, such as a lysosomal disease, that is, in our cells we have like a stomach and They have enzymes or substances that release certain substances that are in the body of these patients and like fats and when the disease is present, there is a deficit and the substances are not destroyed in different organs, mainly from the top down, brain, heart and so on,” the doctor began.
Barros continued commenting that since there is no diagnosis in medicine, It is not thought to be the diseased and a child who presents symptoms continues to grow with them and in youth the main organ that can be affected the most is the kidney.
“They start to have hypertension, They have protein problems in the urine and until regularly at 20, 25 or 30 years old the patient is admitted because they have a damaged kidney or because they have a heart problem or if they are a womanbecause he has a brain stroke and at that moment what we as doctors can do is prevent some of the other causes but if the kidney is damaged, a kidney transplant must be done and if there are other problems such as in the brain or heart, it is sent. treatment but now the person remains like this.
“But if we have an early diagnosis, We have treatments that make the patient have a completely normal life, because there is an enzyme deficiency and the pharmaceutical industry makes these enzymes are given to the patient and in this way no substance will accumulate and it will prevent damage to the heart, brain or kidney and its nerve endings,” the doctor pointed out.
Because the pathology is progressive, Timely diagnosis is essential. It is estimated that in the case of women the onset of symptoms and the diagnosis is 16 years old, on the men’s side, it is 14 years old.
Reducing these times is of utmost importance because the life expectancy of patients It can be up to 20 years due to late diagnosis.
The genetics of the disease
After studies carried out, have found that for each diagnosed patient there are at least five relatives, including siblings, parents, cousins and children, who share the disorder. and also present symptoms compatible with Fabry, according to the doctor specializing in orphan diseases like Fabry, Luis Ramón Barros.
“The patient, If you have any symptoms, you should find the route to reach a specialist who knows about orphan diseases.. When no one understands what is happening to them and they need to go to many specialists over a period of time without getting an answer, patients must think about an orphan disease and investigate,” said Luz Victoria Salazar, director of the Colombian Association of Patients with Diseases of Lysosomal Depot, Acopel.
How to diagnose the disease?
The doctor indicated that it is very easy, in men with a drop of blood from the finger you can determine the absence of the enzyme that is needed, But in women, in addition to this test, molecular tests of the chromosomes must be done.
“Men are XY and women are XX, so since there are two equal believes that In the world the average year to diagnose Fabry disease is more or less 12 years”.
It should be noted that not all diseases Fabry have the same manifestations, but they have similar characteristics, such as abundant eyebrows or that the nose is broad-based.
