There is a wide variety of diseases, I have always said it, it is impossible for a doctor, no matter how prepared he is, to know all of them, that is why specializations are made in a specific area, even, I have met Hepatologists, there are not many, that is to say a specialist in the liver, yes, only in one organ, which makes him highly specialized in that particular organ, it is a subspecialty of internal medicine.
Well, I started talking about the impossibility of knowing all diseases, I remember that I saw in college a disease called mucopolysaccharidosis as an example of those diseases that were of purely genetic origin, but never in my 5 years of experience I had seen a case of this, obviously, it is not someone I have diagnosed, but I could be relatively close to this case.
Today I want to talk to you about this rare disease, rare, but it exists, and it is very particular as to its cause. If you want to know more about it, I invite you to read on, because what I have to tell you will surely interest you.
Genetic diseases like this one involve a big problem, because in general there is no cure, at least not until now. Great advances are being made in the treatment of this type of diseases, but there is nothing that gives a definitive solution, not so far. But, let's define this disease before continuing:
- Mucopolysaccharidosis is a group of rare inherited disorders of metabolism that affect the body's ability to break down and eliminate certain sugars (glycosaminoglycans or mucopolysaccharides) accumulating in tissues and causing damage to various organs and systems, including the nervous system, bones, cartilage, joints and eyes.
In short, the body's ability to get rid of some metabolic elements that need to be disposed of is not fully present. The enzymes in charge of facilitating this process are not present or are not active.
I will remind you of the following:
The main routes of elimination of metabolic wastes are the kidneys, through the feces, or bile. To a lesser extent also the skin. For some wastes to be eliminated they must go through a process that makes them hydrosoluble to be eliminated through the kidneys, for example, some enzymes are in charge of this, if this process does not occur, that is when they begin to accumulate in some specific organs of the body and end up generating irreversible damage.
The cause of this disease is as follows:
A lack or dysfunction of one of the enzymes necessary to break down and eliminate glycosaminoglycans. This enzyme deficit is due to a defect in one of the genes responsible for the production of the enzymes, resulting in an abnormal accumulation of GAG in the tissues.
There are several different types of mucopolysaccharidosis, each caused by a defect in a different gene. For example, mucopolysaccharidosis type I (also known as Hurler syndrome) is caused by a lack of the enzyme alpha-L-iduronidase, while mucopolysaccharidosis type II
(also known as Hunter syndrome) is caused by a dysfunction of the enzyme iduronate sulfatase.
That is, the genetic defect in mucopolysaccharidosis refers to a mutation in the genes responsible for the production of the enzymes necessary to break down glycosaminoglycans.
The fact that the genetic defect is different also implies that the expression of symptoms is different, but among the most common symptomatology we can find the following:
The symptoms of mucopolysaccharidosis vary depending on the type of disorder, but some of the most common symptoms include:
Delayed growth and development: children with mucopolysaccharidosis may be shorter in size and weight than children their age. This is because these metaobolytes accumulate at the bone level and the possibilities for normal growth are limited.
Movement and coordination problems: children with mucopolysaccharidosis may have difficulty moving, walking and maintaining balance due to the accumulation of glycosaminoglycans in the bones and joints.
Learning and cognitive problems:some types of mucopolysaccharidosis can cause mental retardation and intellectual disability, as well as problems with learning and social skills.
Respiratory problems: the accumulation of GAG in lung tissue can cause shortness of breath and increase the risk of respiratory infections.
Skin and nail problems: accumulation of GAG in the skin and nails can cause a wrinkled and dull appearance of the skin and nails, as well as a thickening of the nails.
Eye problems: accumulation of GAG in the eyes can cause vision problems, including decreased visual acuity and increased intraocular pressure. Even complete loss of vision.
These are just some of the most common symptoms of mucopolysaccharidosis. It is important to note that symptoms can vary widely among different types of disorders and from person to person. It is also important to keep in mind that due to the diversity of organs affected and the possibility of complications, it is necessary for the patient to be evaluated by various specialists.
Currently, there is no cure for mucopolysaccharidosis, but treatments are available that can improve quality of life and slow the progression of symptoms. These treatments include:
Enzyme replacement therapy: this treatment involves administering an artificial form of the deficient enzyme to help break down accumulated glycosaminoglycans in the tissues.
Stem cell transplantation: in some cases, a stem cell transplant may be performed to replace the affected cells and improve the production of the deficient enzyme.
Gene correction therapy: this therapy in development involves correcting the genetic defect that causes mucopolysaccharidosis at the cellular level. Good progress has been made in this area, but nothing is definitive yet.
Symptomatic therapies: Symptomatic therapies may also be used to treat individual symptoms of mucopolysaccharidosis, such as physical therapy to improve mobility, occupational therapy to improve manual function, and treatments for skin and nail problems.
It is important to keep in mind that treatments may vary depending on the type of mucopolysaccharidosis and the severity of a particular person's symptoms.
As you can see, it is a rather complex disease, which if not diagnosed in time can leave irreversible damage in the person who suffers from it. The definitive diagnosis is made by means of a genetic test to determine whether or not there is the presence of that error in the specific gene, which usually takes time and is a bit expensive.
I usually do not talk about treatments, because I do not like to, since it could be assumed as if I were medicating, and I prefer to avoid that, however, in this case, I think it is good to note that despite the particularity of the disease, and even though there is no total cure, there are options to help patients.
I hope this publication has been to your liking, if you have something to add, you can do it through the comments, it will be a pleasure to read them.