Cystic fibrosis

Since the lungs is the organ most severely affected by CF, most management of the condition is centered around treatment of acute exacerbations. (Photo: Envato Elements)
Cystic fibrosis (CF) is a genetic disorder originally believed to be rare in the Arab population. Contrary to this belief, CF is a relatively common disorder in Jordan which occurs in one of every 2,500 live births. In comparison, CF occurs in every one of every 2,000-3,000 live births in the Caucasians population. اضافة اعلان

One study found that approximately 70 percent of CF cases in Jordan involved consanguineous marriages, which are relatively common in Jordan. Unfortunately, despite the fact that this disorder is relatively well understood, there is no cure for CF, but there are therapies that can help manage the condition.

CF is a multisystem disorder caused by pathogenic mutations of the CF transmembrane conductance regulator (CFTR) gene. This gene is responsible for a variety of functions within the body, hence the reason for variety of multisystem dysfunction. Of the systems most heavily affected, the respiratory is the leading cause of morbidity and mortality in those affected. 

CFTR belongs to a family of proteins that is related to transport, most importantly the transport of surfactant proteins. Surfactants in the lungs are lipoprotein complexes that are naturally produced by the lungs and help decrease surface tension which aids in lung expansion and breathing. In those with CF, the mutation causes an increase of sputum (thick mucus also known a phlegm) production which ultimately results in an accumulation in lungs. The accumulation of sputum causes wet cough, difficulty breathing, and also acts as an ideal medium for bacterial growth, thus greatly increasing the risk of chest infections. Although acute exacerbations can be treated, there will be permanent loss of lung function over time. As a result, the average life expectancy of those with CF is approximately 40 years.

Another complication of CF is insufficiency of exocrine. The pancreas is responsible for the production of enzymes that are released into the intestines. These enzymes break down and help with the absorption of fats. In those with CF, the amount of pancreatic enzymes released is greatly reduced, which results in malabsorption of fats.

Of the macro- and micronutrients being poor absorbed, the most important are the fat-soluble vitamins A,D,E, and K. As a result, those with CF tend to have a deficiency of these vitamins, particularly that of vitamin D.

Similarly, due to the loss of important nutrients, those with CF (especially in children) may have low BMI and poor healthy weight gain. In conjunction with insufficiency of the exocrine portion of the pancreas, CF may also cause complications of the endocrine portion of the pancreas. The pancreas is also responsible for the production of insulin, which is an important hormone in regulating sugar in the blood. Any issues relating to decreased insulin production or response results in diabetes. Due to the dysfunction of the exocrine pancreas, those with CF are at risk of developing CF-related diabetes.

Treatments for cystic fibrosis

Since the lungs is the organ most severely affected by CF, most management of the condition is centered around treatment of acute exacerbations. The sputum in those with CF is found to be highly viscous and as a result can obstruct breathing. Airway clearance therapies focus on loosening and liquefying to help dislodge the secretions.

The recommendations for airway clearance begins with using medication that expands the airway, known as bronchodilators. For this purpose, albuterol (salmeterol) is used.

The next step is to liquefy the accumulated sputum, which is accomplished by two medications: hypertonic saline, which is extra salty water administered through a device known as a nebulizer, and dornase alfa, which helps break down the sputum even further and to a greater degree.

After the airway has been opened and the viscosity of the sputum has been reduced, the sputum has to be physically dislodged. This takes the form of chest percussions which can come in many forms. The easiest form is the cupped-hand technique, which involves the systematic and rhythmic beating of specific areas of the chest, flanks, and back using the cupped hand. The sputum is broken into small enough pieces that can then be naturally coughed up by the individual.

For those with severe forms of CF there are additional forms of treatment and considerations that must be taken into account. Firstly, those with CF should be up to date on their vaccinations. Seasonal influenza vaccine should be taken annually, using the inactivated vaccine via injection, as well as the pneumococcal vaccine and COVID-19 vaccine.

Lung transplants are available for those with advanced lung disease. Although a transplant can extend the life expectancy, it is not a cure to the disease and only 50 percent survive for at least five years.

Depending on the individual’s case, other medications may be added and serve a variety of functions, such as azithromycin, ibuprofen, and inhaled glucocorticoids.

For those with pancreatic insufficiency, supplemental pancreatic enzymes are the main course of treatment. Some may even need to take an additional medication, such as omeprazole, to aid in further absorption. Additionally, vitamin A, D, E, and K levels in the body should be monitored regularly, and vitamin supplements be taken if needed.

In children, maintaining a healthy body mass index (BMI) is important for ensuring proper growth. The calorie intake should be 110-200 percent greater than that of the general population and in children, the BMI should be at least in the 50th percentile. For those who develop CF related diabetes, the treatment will be similarly to that of type 1 diabetes which will involve a timed insulin dosage regimen.

Treatment in Jordan

Fortunately, most medications and therapies recommended for CF are available in Jordan. In terms of airway clearance therapy, all mediations are available with the exception of dornase alfa, also known as Pulmozyme. Pulmozyme is expensive, costing roughly $3,600 for 75ml which makes it nearly impossible for Jordanians to bring from outside of Jordan without insurance.

Similarly, the pneumococcal vaccine is available in Jordan, but is not covered by the Ministry of Health, which can make it difficult to become vaccinated as the out-of-pocket cost for Prenvar 13 is $250 on average. As for pancreatic insufficiency, the most used medication in Jordan is Creon.

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