Connective tissue dysplasia: myopia and other "gifts"

Hey. I'm a mutant. I have myopia, which in itself is rather sad. But in addition, there are bonuses like "lift weights and dislocate both shoulders at the same time." Systemic dysplasia of connective tissue. Unfortunately, between 8% and 20% of you also have similar genetic problems. Therefore, today we will talk about myopia, gallstones, curved synthesis of connective tissue and a bunch of other extremely unpleasant side effects.

I brought fresh National Clinical Recommendations for 2017 on this topic. Magic drugs are not yet offered, but there are already quite working methods of prevention. In children, it reduces the risk of developing myopia, in adults, the synthesis of connective tissue just normalizes and the intensity of some problems decreases.

Collagen under the microscope

A source

Connective tissue is one of the most important in our body. This is the frame forming the foundation for the attachment of various cells. There are many different proteins that give the desired properties of our connective tissue - tensile strength, flexibility, stretchability. The key structural protein is collagen. At the moment, 28 of its varieties have already been discovered. Normally, collagen is like a rope woven from individual strands. Different types of collagen - different versions of the "weaving" of this fiber. Some kinds of more rigid, some are elastic on the contrary.

These proteins are found almost everywhere. Thanks to them, our skin can stretch and return to its original shape, the ligaments do not allow joints to dislocate under load, and the connective tissue of the sclera of the eye ensures its constancy of geometry, which is important for normal focus.

Collagen synthesis is multistage, with a bunch of regulatory mechanisms. Fibroblasts are carried out as in the illustration above. If everything goes well, the connective tissue is formed exactly as needed. Normally, the process of creating connective tissue fibers is similar to a large factory for the production of mountaineering equipment. We take a few Kevlar threads, a little kapron and bind them in a strictly defined way. The result is a strong, durable cable.

When something went wrong

We are all subject to mutations, despite the biological analogs of the Reed-Solomon code and checksum checks. And, as a rule, these mutations do not make you a superhero. Alas. Systemic connective tissue dysplasia (DST) is just one type of genetic failure, when the source code of protein synthesis turned out to be buggy. DST has differences from many other anomalies associated with a curved genetic code. For example, in sickle cell anemia, only one “bit” is defective. This is a point mutation. With systemic dysplasia, each time a unique combination of several defective genes that a child received as a gift from parents.

At the "factory" of the mutant fibroblast, the collagen creation program is unpredictably broken. As a result, either collagen is small at the exit, or the cell confuses the stages of interlacing fibers, or forgets that it is necessary to make cross-linking in molecules. The result is fragile and poorly structured. The cage, however, is not embarrassed, and it continues to stamp the defective fiber further. The more defective genetic pieces the person gets, the harder the consequences will be for the body. For example, the problem locus rs143383 of the GDF5 gene and rs35068180 of the MMP3 gene will almost certainly lead to severe myopia. Some of the especially unsuccessful mutations are generally fatal at a young age.

Myopia, flatfoot and other problems

Myopia is just the tip of the iceberg. The problem arises from the fact that the sclera is abnormally elastic and does not provide the normal shape and size of the eye. The connective tissue begins to behave like a stretched elastic on clothes and cannot cope with the load. However, the same myopia usually begins to manifest itself only at the age of 5-7 years. How can you understand that a child is dysplastic and he has high risks of developing myopia in the future?

First look at the parents. If they have myopia and other symptoms of DST, then the chances of a child wearing glasses at school are very high.

Secondly, attention should be paid to those systems that are also affected by imperfect connective tissue. Up to 3 years, usually no symptoms appear brightly. The manifestation of problems coincides with periods of sharp growth of the child. At the age of 4-5 years, valvular prolapses begin to form. At about the same age, there are signs of flatfoot. As a rule, such children are much more flexible than their peers.

The most difficult period for people with DST is teenage. The body grows at an incredible rate. All cells work in a crazy afterburner, trying to build up as much mass as possible in a short time. Long, slightly awkward adolescents, and so suffer from the effects of this explosive growth, and dysplastic also receive in addition myopia, curvature of the spine and other joys.

After full growth, new symptoms usually no longer appear.

Are you an adult and wearing glasses?

Here is a list of what you should pay attention to:

1. Problems with heart valves
2. High risk of gallstones. The gallbladder is not elastic, but hangs like a rag and creates conditions for the formation of stones.
3. Problems with vascular tone. Dizziness, headaches. Hypo-and hypertension.
4. Increased risks of sprains and injuries. The ligaments can be either overly elastic and not keeping the joints normal, or weak, prone to traumatic fiber breakage.
5. Accelerated skin aging. Often, due to insolvent collagen and large weight, gravitational age-related changes quickly form and the face begins to "sag."
6. Defective bone tissue synthesis. Because of the poor-quality skeleton, bones may become brittle or prone to deformation. What can lead, for example, to problems with the spine.
7. Weakness of the anterior abdominal wall. Dysplastic can easily make itself, for example, an inguinal hernia when lifting weights.

Moreover, the combination of these diseases are unpredictable and depend on what set went. Cheerless such a lottery.

How to treat?

Radically in any way. There is a timid hope for gene therapy, but this will not help much adults with developmental anomalies. The same eye shape will never be normal again, and the deformed spine is perfectly even. In general, the position of modern medicine is symptomatic treatment, if the violations are particularly severe.
However, connective tissue dysplasia is a disease that can, in many cases, be partially compensated by sports, a proper diet, and the usual vitamins. The fact is that the synthesis of collagen and other structural proteins is largely regulated by the availability of group B vitamins, ascorbic acid and magnesium. People with DST should receive more of them. The quality of the synthesized proteins and, accordingly, the strength of the ligaments, skin elasticity, as a rule, come to a relative norm. In children, such courses of vitamin therapy potentially reduce the risk of developing the same myopia, or at least its degree.

National clinical guidelines, for example, offer options with courses of Magnesium + vitamin B6 in fairly large dosages for 4-6 weeks. Plus ascorbic acid for 4 weeks. Just do not forget to go to the doctor before you take something.

I will also say a completely banal thing, but sport is especially necessary for patients with DST. Yes, we can't fix the broken genome. And the bundles will still not be perfect in the end. But the same flat feet, back problems and other problems can be compensated by a good muscle frame. Just need to remember that dysplastic definitely should not perform exercises with high weight. We are very afraid of retinal detachment and various injuries that are especially easy to get with this mutation. The ideal sport in this case is swimming.

UPD
As anon19221 rightly pointed out in the comments, even swimming can be harmful if trained in excessive rhythm and with bad technique. So, in the beginning - a consultation with a doctor and then it is highly desirable to engage without fanaticism under the supervision of a good coach.

Traditional bonuses

We, of course, will not return the shape of the dysplastic eye, but we can still help get rid of the glasses. We have excellent equipment and experienced surgeons.

For the new year we have prepared a discount of 33.673% for vision correction using the ReLEx SMILE method. To be more precise, the price for correction started earlier from 98,000, and now from 65,000. It doesn’t matter how many diopters you have, if you have astigmatism or not - the price does not change. Discounts end after January 17, 2019 .

Contacts:
"Ophthalmological clinic" Sphere "by Professor Eskina"
call center telephone: +7 (495) 480-75-84
our address: Moscow, st. Starokachalovskaya, 6