Mon. Mar 10th, 2025

CIPA (Congenital Insensitivity to Pain with Anhidrosis) – A Rare Genetic Disorder

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Sandeep Dhand
Nutritionist And Health Educator

Introduction

CIPA, or Congenital Insensitivity to Pain with Anhidrosis, is a rare genetic disorder in which affected individuals cannot feel pain or sweat. This condition is extremely dangerous because pain is an important signal that alerts the body to injury or illness. Without the ability to feel pain, people with CIPA can suffer severe injuries without realizing it.

In addition, these individuals also lack the ability to sweat (anhidrosis), making them vulnerable to overheating and heatstroke. Since sweating helps regulate body temperature, the inability to sweat can be life-threatening, especially in hot weather.

This article will cover various aspects of CIPA, including its causes, symptoms, diagnosis, treatment, and dietary recommendations for individuals with this condition.

What Causes CIPA?

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CIPA is caused by a mutation in the NTRK1 gene, which plays a crucial role in the development of the nervous system. This gene is responsible for producing nerve growth factor receptors, which help in the proper development of pain-sensing neurons.

When the NTRK1 gene mutates, it leads to a lack of nerve endings that detect pain and control sweat glands. Since this is a genetic disorder, it is inherited from parents who are carriers of the mutated gene.

CIPA follows an autosomal recessive inheritance pattern, meaning that both parents must pass on the defective gene for a child to develop the disorder.

Symptoms of CIPA

The symptoms of CIPA usually appear in infancy or early childhood. Some of the key symptoms include:

  1. Insensitivity to Pain

Children with CIPA do not react to injuries like cuts, burns, or fractures.

They may continue playing even after breaking a bone.

This lack of pain sensation can lead to repeated injuries and infections.

  1. Lack of Sweating (Anhidrosis)

People with CIPA do not sweat, even in hot conditions.

This increases the risk of heat exhaustion and heatstroke.

In extreme cases, overheating can cause seizures or even death.

  1. Unnoticed Injuries

Children may bite their lips, tongue, or fingers without realizing it.

Repeated injuries can lead to severe infections and amputations in extreme cases.

  1. Joint and Bone Issues

Since they do not feel pain, people with CIPA put excessive pressure on their joints.

This can lead to early-onset arthritis and joint deformities.

  1. High Fever in Infancy

Many babies with CIPA experience frequent high fevers due to their inability to regulate body temperature.

Diagnosis of CIPA

CIPA is diagnosed based on a combination of clinical symptoms, genetic testing, and medical history.

  1. Clinical Examination

Doctors check for:

Lack of response to painful stimuli.

Absence of sweating.

Presence of unexplained injuries.

  1. Genetic Testing

A DNA test can confirm mutations in the NTRK1 gene.

Genetic counseling may be recommended for families with a history of CIPA.

  1. Nerve Biopsy

In some cases, doctors may examine nerve tissue to check for abnormalities in pain-sensing neurons.

Early diagnosis is crucial to prevent severe complications and ensure proper management.

Is There a Cure for CIPA?

Currently, there is no cure for CIPA. Since it is a genetic condition, treatment focuses on managing symptoms and preventing injuries.

Management and Care for People with CIPA

  1. Preventing Injuries

Parents and caregivers should closely monitor children with CIPA.

Soft padding should be used on furniture and floors to prevent injuries.

Protective gear like gloves, knee pads, and helmets should be used during activities.

  1. Monitoring Body Temperature

Since people with CIPA do not sweat, they should stay in cool environments.

Air-conditioned rooms, fans, and cool baths can help regulate body temperature.

Drinking plenty of fluids is essential to prevent overheating.

  1. Regular Medical Checkups

Since injuries can go unnoticed, regular doctor visits are necessary.

X-rays and medical tests can help identify fractures or infections early.

  1. Dental Care

People with CIPA may bite their tongues and lips unknowingly.

Regular dental checkups are important to prevent oral injuries.

  1. Physical Therapy

Since joints and bones can get damaged over time, physical therapy can help improve movement and prevent deformities.

Diet Plan for People with CIPA

A balanced diet is important for individuals with CIPA to maintain bone health, prevent infections, and regulate body temperature. Below is a recommended diet plan:

  1. Hydration is Key

Since people with CIPA cannot sweat, they should drink plenty of water throughout the day.

Coconut water, fresh juices, and electrolyte-rich drinks can help prevent dehydration.

  1. Foods Rich in Calcium and Vitamin D

To strengthen bones and prevent fractures, include:

Milk, yogurt, cheese

Leafy greens like spinach and kale

Fish like salmon and sardines

Eggs and fortified cereals

  1. Protein for Healing

Since injuries and wounds take longer to heal, a high-protein diet is important:

Lean meats like chicken and fish

Lentils, beans, and tofu

Nuts and seeds (almonds, flaxseeds)

  1. Anti-Inflammatory Foods

To reduce joint pain and inflammation, include:

Turmeric and ginger

Olive oil and avocados

Berries and citrus fruits

  1. Cooling Foods

To regulate body temperature, consume:

Cucumbers, watermelons, and yogurt

Mint, buttermilk, and coconut water

  1. Avoid Processed Foods

Avoid junk food, sugary drinks, and excessive salt, as they can cause inflammation and dehydration.

Sample Meal Plan for a Day

Breakfast

Oatmeal with milk and nuts

A glass of fresh fruit juice

Mid-Morning Snack

Yogurt with berries

A handful of almonds

Lunch

Grilled chicken or paneer with brown rice

Mixed vegetable salad with olive oil dressing

A bowl of curd

Evening Snack

Coconut water or buttermilk

Roasted chickpeas or nuts

Dinner

Lentil soup with whole wheat bread

Stir-fried vegetables with tofu

A glass of warm milk with turmeric

Conclusion

CIPA is a rare and serious genetic disorder that requires careful management. Since affected individuals cannot feel pain or sweat, they are at high risk of injuries, fractures, and heat-related illnesses. While there is no cure, preventive care, proper monitoring, and a healthy diet can help improve their quality of life.

Parents and caregivers should create a safe environment and ensure that people with CIPA receive regular medical checkups. Following a nutrient-rich diet and staying hydrated is essential for maintaining overall health.

Though living with CIPA is challenging, with the right care and lifestyle adjustments, individuals can lead healthier and safer lives.

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