CIPA disease: when a person does not feel pain

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Congenital insensitivity to pain and anhidrosis (CIPA) is a rare inherited disorder that prevents sick people from feeling pain and sweating (anhidrosis). It is also called hereditary sensory and autonomic neuropathy type IV (HSAN IV).

This name is very informative as it identifies several important characteristics of the disease. This is a hereditary disease, that is, a family disease. Sensory neuropathy means that it is a nerve disorder that specifically affects the nerves that control sensation. Autonomic nerves are nerves that control the body's survival functions. CIPA or HSAN IV targets the autonomic nerves that control sweating.

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Symptoms

CIPA disease is present at birth and deprives people of the ability to feel pain or temperature and cannot sweat . Symptoms appear during childhood and the disease is usually diagnosed during childhood.

No pain – Most people with CIPA do not complain of no pain or sweat. Instead, children with CIPA first get hurt or burned without crying, complaining, or even noticing. Parents may notice that a child with CIPA is just a gentle-mannered child, rather than noticing the problem. After a while, parents may start to wonder why the child is not responding to pain, and the child's doctor will likely run some diagnostic tests for nerve disease. Children with CIPA often suffer repeated trauma or burns because they do not avoid painful activities. And they can even develop infected wounds because they don't instinctively protect their wounds from further pain. Occasionally, children with CIPA need a physical exam to detect excessive trauma. When the medical team observes unusually calm behavior in the face of pain, it can lead to a diagnosis of sensory neuropathy.

Anhidrosis (no perspiration): Hydrosis means perspiration. Anhidrosis means that there is no perspiration. In general, sweat on the surface of the skin helps to cool the body when we are too hot from exercise or high temperatures . Children (and adults) with CIPA suffer from the effects of anhidrosis, such as excessive fever, because they lack the "cooling" protection that perspiration can provide .

Diagnostics

There are no simple x-ray tests or blood tests that can identify CIPA. Some people with CIPA have abnormally underdeveloped nerves and do not have sweat glands on biopsies.

The most accurate diagnostic test for CIPA is a genetic test that can be done before birth, during childhood, or in adulthood. There is a known genetic abnormality that identifies CIPA and is called the human TRKA gene (NTRKI), which is located on chromosome 1 (1q21-q22). A genetic DNA test can reveal an abnormality in this gene, confirming the diagnosis of CIPA. …

Main reasons

CIPA is an inherited disease. It is an autosomal recessive disorder , which means that anyone with CIPA must inherit the gene from both parents. Usually the parents of an affected child carry the gene, but they do not get sick if they inherited the gene from only one parent.

The abnormal gene responsible for CIPA, human TRKA (NTRK1), is a gene that directs the body to develop mature nerves. In particular, it promotes nerve growth by encoding a receptor called tyrosine kinase (RTK), which autophosphorylates in response to nerve growth factor (NGF).

When this gene is defective, as in those with CIPA, the sensory nerves and some autonomic nerves do not fully develop, and therefore the sensory nerves cannot function properly to perceive pain and temperature messages, and the body cannot. produce sweat .

Watch out

There is currently no treatment that can cure CIPA disease or replace missing pain sensation or sweating function .

Children with the disease must learn to prevent injuries and watch for injuries to avoid infection. Parents and other adults caring for children with CIPA should also remain vigilant, as children can naturally be tempted to try new things without fully realizing the potential implications of physical injury.

Expectations

If you or your loved one has been diagnosed with CIPA, you can lead a healthy and productive life with good medical care and lifestyle changes. When it comes to family planning, it is important to know that it is a genetic disorder.

CIPA is a rare disease, and often finding support groups to address unique health issues can help in terms of getting social support and practical advice to help make life easier with CIPA.

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