My American Nurse recently carried an uplifting article showing increasingly positive changes for cystic fibrosis (CF) patients.

A network of over one hundred thirty centers throughout the U.S. provide specialized care for CF patients. The centers are accredited by the Cystic Fibrosis Foundation. The staff obtains authorization to share a patient’s clinical information.

As It Was

Years ago, a child born with CF had a five-year life expectancy. Since then, there has been a one percent annual increase bringing the median age of survival to 47 years in 2018.

As the article points out, CF no longer involves children exclusively.  In another ten years, seventy percent of people in the U.S. with CF will be adults.

CF By the Numbers

CF affects over thirty-thousand people in the U.S. and about seventy-thousand people worldwide. Screening of newborns has been in place since 2010. Seventy-five percent of children who have CF were diagnosed before age two.

Since 1989, over two thousand CFTR mutations were identified, with ten to fifteen percent known to cause disease.

About Cystic Fibrosis

CF patients inherit a copy of the genetic mutation of the CF transmembrane conductance regulator (CFTR) from each parent. The mutations result in either the absence of the CFTR protein or one that is malformed.

The balance of fluids and salt are affected both inside and outside the cell. This leads to thick, sticky mucus in the pancreas, lungs and many other organs.

Blockage in the lungs may lead to lung infections. The infections in turn create cysts and fibrosis (scar tissue) possibly leading to permanent lung damage.

For CF patients with lung disease, the standard treatment consists of oral and inhaled antibiotics, therapy to clear airways, and drugs that loosen and clear mucus (mucolytics). The lung treatments may last from two to three hours every day.

Standard treatments address CFTR symptoms while CFTR modulators (drugs) restore a portion of the mutated gene’s function.

Damage to the Pancreas

The pancreas is also affected when obstructions prevent production of insulin which controls blood sugar. In adulthood, when insulin is in short supply, it results in cystic fibrosis-related diabetes mellitus.

Damage to the pancreas also impairs its production of digestive enzymes. These enzymes are responsible for aiding digestion and nutrient absorption. Approximately eighty-five percent of CF patients exhibit pancreatic insufficiency and require enzyme replacement therapy with every meal or snack.

CF mutations create diverse symptoms. It has been known to affect the liver, endocrine and reproductive systems, sinuses, and gallbladder. CF is now in a class with other multisystem diseases.

Homozygous or Heterozygous

Approximately forty-four percent of CF patients in the U.S. have two copies of the F508del mutation that causes a fold in the CFTR protein. The patients are classified as being homozygous.

About forty percent of patients in the U.S. are classified as being heterozygous and have one copy of the F508del mutation.

In addition, another ten percent of CF patients have also been diagnosed with two copies of CFTR mutations and there is no appropriate modulator therapy for this population.

FDA-Approved Modulators

A new type of drugs called modulators have been approved by the FDA. The modulators have been developed to zero in on the defective CFTR protein.

The drug, ivacaftor, is currently in use but has not remedied the problem of the misfolded F508del mutation.

As a result, patients and physicians welcomed the FDA’s approval of the triple combination of ivacaftor, tezacaftor and elexacaftor modulators in October 2019.

The triple combination is ten to fourteen percent effective in improving lung functions for people heterozygous and homozygous to the F508del mutation.

Some Damage is Irreversible

CF patients who have sustained damage prior to receiving modulator therapy may have to continue the standard therapy to treat symptoms. Patients who have advanced lung disease may have to consider lung transplants.

Several guidelines were included in the My American Nurse article such as interactions, side effects caused by treatment, nutrition, diabetes, colon-cancer screening, and mental health.