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Baby born with "white blood": What is this genetic disorder?
Jesé Muñoz Dipascua is a two-month-old baby with a rare genetic disorder. Originally from Cúcuta, Colombia, he is already being monitored and watched while waiting for the treatment guideline.
For this purpose, he was transferred to the Bucaramanga Hospital in an emergency. This health entity will be responsible for the evolution and strictest surveillance of the condition of the minor infant.
Meanwhile, his relatives have appeared before the digital and in-person media to request support. Being a very little known disease, the cost of his care is almost impossible to cover.
The curious case of Muñoz Dispascua, the baby with "white blood"
Jesé Muñoz Dipascua was born about two to three months in the aforementioned Cúcuta, Colombia. Although he did not present this disorder from the beginning, just after 2 weeks of existence he manifested the first symptoms.
These symptoms were related to a strange behavior in the newborn, headed by drowsiness, loss of appetite and apathy. Once admitted, the preliminary examinations revealed a premise that had not been addressed before by the Cúcuta Hospital.
However, Colombia is not new when it comes to this rare syndrome. In 20 years, there have been two similar cases arriving at their doors, so they are not without much experience. Throughout that period, they were treated by the University Hospital of Neiva.
Muñoz Dipascua is the result of the union of Venezuelan parents. Who, without knowing, inherited to their son a rare mutation in the expression of a gene in chromosome number 19. With this, he unleashed a pathology known as familial hypercholesterolemia.
Disease that affects only one person per million inhabitants and was detected early. The moment the nurse drew blood for laboratory analysis, she was able to verify the peculiar whitish color of the circulatory fluid.
Given the finding, he was immediately referred for admission to the Intensive Care Unit (ICU) in Bucaramanga. For now, he remains hospitalized waiting to receive the help he deserves to pay for his basic treatment.
What is familial hypercholesterolemia?
In your daily diet you are likely to consume both "good" cholesterol and "bad" cholesterol. Technically, they are high and low density lipoproteins respectively, with two completely different scenarios for the body.
Low-density lipoproteins (LDL) make up the bad cholesterol. Its biochemical characteristics promote its adherence to the walls of blood vessels, hindering its metabolism. Over time, they are promoters of heart problems.
For its part, high-density lipoproteins (HDL) are easily metabolized by the liver. They are practically innocuous for the circulatory system, but their excessive consumption is not recommended either.
In familial hypercholesterolemia, there is a genetic and metabolic deficit in which the body does not control cholesterol. As such, it is the LDL that is extremely elevated as a result of this inconvenience, invading the blood.
As already introduced, it is a hereditary syndrome based on the mutation of chromosome 19. It is enough that only one father has this disability and inherits it to his son, as is the case of Muñoz Dipascua.
The individual accumulates LDL because he is unable to eliminate the excess or metabolize it properly. Over time, if not treated, it generates narrowing of the vascular walls along with serious consequences.
How is it identified? Signs and symptoms
It should be emphasized that, although it is 100% hereditary, you are not always born with the symptoms. Sometimes they make their staging in adulthood, as on other occasions they do so within days of childbirth.
The first part of the disease is characterized by malaise, drowsiness or lethargy. Blood flow is slowed down, hindering cerebral oxygenation to the point of causing these symptoms. At the same time, other clinical manifestations are contrasted, such as:
At the skin and eye level, in general, constant fat deposits are produced. Over time, they are so obvious that they are characterized as pearly-colored skin lesions on the hands, elbows, and knees.
In the muscular and skeletal sphere, the joints begin to lose mobility. At the same time, the tendons undergo thickening as they suffer from the excessive accumulation of LDL.
Predilection to the appearance of aphthae in the mouth and ulcers in different parts of the skin. With the increase of bad cholesterol, the essential proteins for the cutaneous-mucosal strengthening are decreased.
It should be noted that, in the most serious cases, coronary and heart disease are a certainty. If not prevented, they can cause death or a life expectancy of less than 20 years.
It can't be cured, but it can be treated
After the clinical finding, the relatives of Muñoz Dipascua are asking for help to be able to cope with the treatment. The grandfather of the minor infant has exposed to the press the need suffered in the family nucleus.
"My grandson was taken to Bucaramanga where he is doing well. Even so, my son-in-law and my daughter need help because they unfortunately live on the streets. They are looking for financial support for other tests, medicine and the possibility of dialysis." - Grandfather Muñoz commented.
Familial hypercholesterolemia cannot be cured, but it can be treated. The first step is to monitor the levels of LDL in the blood, and then to impose a strict dietary regimen.
Basically, all fat from the diet has to be reduced to counteract the harmful effects of the disease. Subsequently, it is complemented with pharmacological therapy that includes drugs known as statins.
In cases like those of Muñoz Dipascua, performing dialysis meets the criteria for blood purification. However, they are measures considered extreme, unless there is strict medical criteria.
Prognosis in patients with familial hypercholesterolemia
The most severe presentation of the pathology causes death before 20 years of age. Other variants where the diet is not followed exactly, promotes heart attacks between 40 to 50 years.
In short, this is an uncertain assessment that will depend on the individual's response to treatment. At the same time, socioeconomic conditions are taken into account to obtain a satisfactory therapy.
