- Congenital analgesia: causes
- Congenital analgesia: symptoms
- Congenital analgesia: diagnosis
- Congenital analgesia: treatment
- Congenital analgesia: patient prognosis
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Congenital analgesia is a disease in which the patient does not feel pain stimuli. In theory, it might seem a favorable condition, in practice it is the other way around - pain warns us against various factors, therefore a he althy person withdraws his hand from the fire, and a patient with congenital analgesia - not feeling the pain associated with fire - easily way can get burned. Congenital analgesia is a really dangerous disease - can it be treated somehow?
Congenital analgesiais a rare disease - so far only several dozen cases have been describedof congenital insensitivity to pain . Pain is one of the sensory experiences that different people feel completely differently - some of us are more sensitive to pain, while others are much less. It would seem that it would be best not to feel any pain at all, but in fact such sensations are very important - it is pain (e.g. abdominal pain) that informs us that we have some disease. Feeling pain is also responsible for avoiding unfavorable factors - for example, when we accidentally put our hand in a vessel with boiling water, reflexively - after we start to feel pain - we withdraw it. Therefore, pain is a feeling in some way beneficial and the inability to feel it is treated as … a disease. Some people do not feel pain sensations at all, even from the moment of their birth - patients with congenital analgesia (also called congenital insensitivity to pain) struggle with this unusual ailment.
Congenital analgesia: causes
Congenital insensitivity to pain is a genetically determined disease. It is caused by mutations mainly in the SCN9A gene, which encodes one of the voltage-gated sodium channels. These channels are found in large numbers in nociceptors (i.e. receptors of nerve cells responsible for the perception of pain sensations) and in a situation where their functions are disturbed due to mutations, patients may be completely insensitive to pain. Congenital analgesia is inherited in an autosomal recessive manner, which means that both copies of the abnormal gene must be inherited in order to develop the disease.
Similar to disorders occurring in the course of the courseCongenital analgesia is sometimes a problem found in children suffering from autism. Such patients also suffer from insensitivity to pain stimuli, although due to the fact that in such patients the perception of various sensory stimuli is generally disturbed, in the classical approach of autism, it is not included in the group of problems related to congenital insensitivity to pain.
Congenital analgesia: symptoms
The basic pain insensitivity disorder is the inability to feel this sensory stimulus. Problems with the described unit exist in the patient from birth, but it can be diagnosed relatively late due to the fact that the patient does not report sensory disturbances related to a stimulus that is, in principle, totally alien to him.
The fact that the patient is struggling with pain sensation disorders can be convinced by various phenomena. In children, even numerous bites of the tongue or cheeks can be noticeable - each of us has them, however, due to the accompanying pain, we tend to avoid it. People with inborn insensitivity to pain do not feel it, so various body injuries - sometimes caused by them themselves - appear much more often. Patients with congenital analgesia also often experience burns (be it body surface or mouth burns - they may not run away from hot objects by drinking boiling fluid and may not feel pain when they come into contact with hot objects). Numerous bruises or sometimes even bone fractures may also draw attention - in patients with congenital analgesia such events are more common because they do not lead to pain, therefore patients are simply much less careful and therefore more susceptible to such events. events.
Congenital analgesia: diagnosis
The diagnosis of congenital analgesia is based on the recognition of disorders characteristic for this individual (i.e. the inability to feel pain stimuli). The existence of this disease in a patient can be confirmed by conducting genetic tests, in which it will be confirmed that there are mutations characteristic of hereditary insensitivity to pain.
Congenital analgesia: treatment
Basically, there are currently no treatment options available that would allow patients with congenital analgesia to feel pain. In some studies it was hypothesized that the overproduction of endorphins (the so-called happiness hormones) in the brains of patients was responsible for the occurrence of this entity. It is in connection with this theory that attempts have been made to use the opioid receptor antagonist naloxone in patients, whichit suppresses the effect of endorphins on nerve cells. However, this therapy is not widely used today because it only allowed to obtain the expected results in some patients. Due to the fact that there is no cure for congenital analgesia, patients with this unit need to be educated about the situation, first of all. which they should avoid. We are talking about all the events that lead to such a feeling in people who feel pain correctly - already at the stage of early childhood, one must observe patients with inborn insensitivity to pain, e.g. against injuries or burns. It is also necessary to carefully observe a patient with congenital analgesia - this is in order to quickly recognize possible injuries (e.g. fractures) and start their treatment as early as possible.
Congenital analgesia: patient prognosis
The mere fact of suffering from congenital analgesia does not shorten the life of patients, the consequences of burdening this unit may lead to a shorter than average survival rate. A higher risk of death in patients with congenital insensitivity to pain is associated with a higher incidence of various injuries in this group of patients. Sources: 1.Genetics Home Reference, U.S. National Library of Medicine, on-line access: https://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-paindefinition2.Genetic and Rare Diseases Information Center materials, on-line access: https://rarediseases.info.nih.gov/diseases/12267/congenital-insensitivity-to-painAbout the authorBow. Tomasz NęckiA graduate of medicine at the Medical University of Poznań. An admirer of the Polish sea (most willingly strolling along its shores with headphones in his ears), cats and books. In working with patients, he focuses on always listening to them and spending as much time as they need.