A Guide To Know About Cystic Fibrosis - Symptoms, Causes, and The Treatment

Cystic fibrosis is a chronic and hereditary disease that represents a serious health problem. It is a degenerative pathology that mainly affects the lungs and our digestive system

It consists of a genetic alteration that affects the areas of the body that produce secretions. It leads to thickening and decreasing in the content of water, sodium, and potassium, which obstructs the channels that transport these secretions and a stagnation that produces infections and inflammations. Ultimately, this inflammation destroys areas of the lung, liver, pancreas and reproductive system. It is a severe pathology of an evolutionary type that today has no cure.

What Causes of Cystic Fibrosis?

It is a genetic disease of an autosomal recessive nature. If a person inherits the defective gene from both parents, he or she will suffer from the disease. If he inherits a normal gene and a defective gene, he will be a carrier of the disease, without experiencing it. But there’s a possibility that it may transmit to their offspring.

What Are The Symptoms of Cystic Fibrosis?

The characteristic symptoms of this disease are:

• Frequent Respiratory Problems
• Lack of Weight
• Digestive Problems
• Persistent Cough Problems Which Result In The Continous Production of Mucus

How Is Cystic Fibrosis Diagnosed?

In cystic fibrosis, an early diagnosis is crucial, because it can prolong the patient's life expectancy and improve its quality. Currently, we diagnose this disease through neonatal screening which is also known as the "heel stick test.” This technique is straightforward, with low economic costs and is carried out in newborn babies and within the hospital environment. It consists of making punctures in the heel to obtain a blood sample that is later analyzed. If this test is positive, a second diagnostic test, called the "sweat test" is then performed confirming the positive diagnosis of cystic fibrosis.

What Complications Can Occur Due To Cystic Fibrosis?

As the lungs and liver are some of the organs that are most affected by this disease, if it reaches very advanced stages, there is the possibility of having to perform transplant of lung or liver and sometimes both. With experience, many of the initial technical difficulties that this intervention entails have been overcome and, to this day, lung transplant surgery is highly standardized. Despite this, it continues to be a procedure with considerable risk.

However, with adequate control, the risk of infection and the side effects of treatment is minimized to avoid rejection of the new organ.

On the other hand, also the involvement of the pancreas is frequent in patients with this pathology since there is a decrease in the secretion of insulin, which can lead to diabetes. This may happen to the people with the average age of onset between 18 and 21 years.

Diabetes-related cystic fibrosis may improve with adequate insulin therapy, but the bet is that we need to maintain blood glucose levels to normal range.

How Is Cystic Fibrosis Treated?

The treatment of this disease is based on three fundamental pillars:

1. Adequate Nutrition: supplemented with pancreatic enzymes for correct absorption of fat and fat-soluble vitamins.

2. Medication: Medications that fight against respiratory infection and inflammation.

3. Regular Practice of Physical Therapy: consisting of respiratory physiotherapy to eliminate the accumulation of mucus and maintain an adequate lung function, exercises are essential to strengthen the thorax musculature to prevent deformities; and the practice of some sport.

The life expectancy of cystic fibrosis patients gradually increased. We should say thanks to a better knowledge of the pathophysiology of this disease and the multidisciplinary treatment of these patients.

Can We Prevent Cystic Fibrosis?

As cystic fibrosis is a hereditary disease, it can not be prevented. Families that already have cases of cystic fibrosis can get genetic counseling about the risk of transmission of disease to their children. Through prenatal diagnosis, the doctor can detect cystic fibrosis early and treat the complications accordingly. Wait, will a newborn child definitely suffer from cystic fibrosis? Yes, Preimplantation Genetic Diagnosis allows avoiding the transmission of serious genetic diseases such as cystic fibrosis. It is a laboratory technique that which is known as vitro fertilization. It enables us to select the healthy embryos of a couple.

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Thanks for reading…
Sam Khan