Know your Symptoms!

If you have been following our thread you should now know that CIPA (Congenital Insensitivity to Pain with Anhidrosis) otherwise known as HSAN IV (Hereditary Sensory and Autonomic Neuropathy Type-4) is a condition that is present from birth which inhibits the ability to perceive physical pain.

Since we have already covered the basic definitions and probable causes, let us move on to a more practical part of HSAN-4: Signs and symptoms of a person with CIPA! 

Generally, signs and symptoms are mostly shared by both children and adults. However certain symptoms are more prevalent to a certain age due to their maturity and characteristics. Children for instance, are most likely to meet with minor accidents because they are at the age of exploring and moving about. Children with CIPA are met with a higher risk of injuring themselves while they play as they tend to be much more careless compared to adults. Below are the list of symptoms categorized according to age:

INFANTS / CHILDREN

Symptom no. 1: Anhidrosis

Anhidrosis is the inability to sweat, causing heat to quickly build up within the body. This particular symptom triggers the development of fever, which brings us to our second common symptom...

Symptom no.2: Hyperprexia

Hyperprexia is the aftermath of Anhidrosis, in which the heat trapped within the body causes the child to develop an extremely high fever. This is pretty common among children with CIPA, and parents are to be made aware of their children's body temperature regulation as high fevers are known to cause brain damage if they are not taken care of.

Symptom no.3: Lichenification

Lichenification is associated with the first two symptoms as the skin thickens as a result of dead cells built-up. The inability to sweat and release bodily toxin also contribute to skin thickening and the formation of hard calluses around the body.

Symptom no. 4: Hypotrichosis

Often associated with Anhidrosis, Hypotrichosis occurs when the body's skin cells are affected so bad that they no longer promote hair growth around the area of congested pores, causing the person to lose hair.

Symptom no.5: Seizures

Seizures are not uncommon among kids with CIPA. In fact, most of them develop seizures whenever they experience Hyperprexias.

Symptom no.6: Hypotonia

Hypotonia or commonly known as 'floppy baby syndrome', is a state of low muscle tone often involving reduced muscle strength, hence portraying the infant to look droopy with diminished muscles.

Symptom no.6: Recurring ulcers

Infants and children are prone to develop ulcers especially during the teething period. Children with CIPA usually have recurring ulcers due to the inability to feel pain, and because they play and fall down a lot (possibly hurting their mouth or accidentally biting their tongue) ulcers will develop around the insides of their mouth without them noticing.

ADULTS

Symptom no.1: Osteomyolitis

Osteomyolitis is a condition where the bone suffers from great inflammation due to infection around the affected area. Sometimes adults tend to graze their knees or elbows when they are moving about and adults with CIPA tend to graze and cut themselves without their own realization. These recurring cuts or bruises will then escalate to a bigger wound from thelack of medical attention, which will then affect the surrounding bones (joints).

Symptom no.2: Acroosteolysis

Acroosteolysis is a condition where an adult with CIPA loses bone tissues that surrounds his or her fingers and toes. This happen due to recurring injuries around the hands and toes and the added pressure of bending and bruising them. As a result, their fingers and toes appear to be slightly more pointed compared to regular people. 

Symptom no.3: Charcot Joint

Charcot joint is a progressive inflammation and deformity of bodily weight-bearing joints as a result of increased blood flow to the limb, contributing to swelling and osteoporosis of the bones as the Charcot process occurs.

Symptom no.4: Postural Hypertension

Adults with CIPA tend to suffer from postural hypertension. According to the image, the person's blood pressure drops whenever the person stood up from sitting or laying down for an elaborated amount of time, triggering instant dizzy spells and body imbalance.

Symptom no.5: Neurotrophic Keratitis

Neurotrophic keratitis is a degenerative disease characterized by decreased corneal sensitivity and poor corneal healing. Adults with CIPA might sometimes damage their eyes from accidental actions; such as soaping during bathing or poking their eyes. Since they are unable to feel pain, less attention is given, causing the eye to heal slower than usual. Repetition of this causes decreased sensitivity, and for some cases individuals may have poor eyesight and may even go blind.

These symptoms - as mentioned, progresses differently for both children and adults but the link and connection as to how they develop can be observed from the symptoms suffered as a child. Of course, an overlap for both age class would be the obvious inability to feel pain, temperature change and also the inability to feel pressure. However, physical symptoms are often observable, and it is pretty easy to distinguish individuals who suffers from CIPA.

As we reach the towards the end of our discussion today, we immensely hope that you have learned something, and do check our blog page for more updates in the future! Have a pleasant day, and take care!

References:

Axelrod, F. B., & Simson, G. G. (2007, October 3). Hereditary sensory and autonomic neuropathies: types II, III, and
IV.Orphanet Journal of Rare Diseases, 2(39). Retrieved September 21, 2016, from
http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-39

Congenital insensitivity to pain with anhidrosis (n.d.). In National Center for Advancing Translational Sciences. Retrieved
September 21, 2016, from https://rarediseases.info.nih.gov/diseases/3006/congenital-insensitivity-to-pain-
with-anhidrosis