Genetics and Cystic Fibrosis

For most medical conditions, determining risk involves a mix of controllable and uncontrollable factors. People can influence their risk through smart life choices like diet, exercise and healthy habits. In other cases, though, certain risk factors are present at birth or are developed early in life.

This phenomenon goes back to genetics, the pieces of our DNA that control our human traits.

How Do Genetics Work?

Within every cell of the body are chromosomes, coils of DNA that contain hundreds or thousands of genes. These genes help define us, from physical characteristics to mental tendencies. At birth, every person receives two sets of genes, one from each parent.

Genes can be damaged or mutated, though, and this process is often passed down from parents as well. Some disorders only need one copy of a particular mutated gene to show effects, a situation known as “dominant inheritance.” In cases of “recessive inheritance,” both the genes from the mother and father must be damaged for traits or diseases to be passed on.

Inherited genetics cause several major health conditions. One example is cystic fibrosis, a life-altering disease which affects the lungs, digestive system and other major organs.

Cystic Fibrosis

Basics:

Cystic fibrosis is an inherited disease in the recessive category, meaning both parents must carry the gene for it to be passed on. It affects the production and consistency of a vital protein known as “cystic fibrosis transmembrane regulator” (CFTR), a substance which is found in multiple major organs and helps regulate movement of sodium and chloride ions.

About 70,000 people worldwide live with cystic fibrosis. Cystic fibrosis is a serious and permanent disease, though major progress in its care over the last several decades has raised average life expectancy from the teens to nearly 40 years old. It can affect several major areas of the body:
Lungs: Changes in CFTR production often turn liquids in the body sticky and mucus-like. This mucus can block the lungs and cause difficulty breathing. It also allows bacteria to grow within the lungs if untreated. Over time, this damages the airways and lung tissue.
Digestive organs: Like in the lungs, cystic fibrosis can make secretions from the digestive tract much thicker than normal, leading to clogs in the intestines. In severe cases, surgery might be required to clear mucus buildups.
Liver: Mainly due to duct blockages, cystic fibrosis can lead to several liver complications.
Pancreas: Also due to duct blockages, the pancreas can begin absorbing fewer fats and vitamins, and can even lead to a specific type of related diabetes.
Reproductive organs: Infertility becomes more common for people with cystic fibrosis.

Symptoms and Complications:

One unifying factor among cystic fibrosis patients is extra salt in their sweat, usually in detectable levels by parents or significant others. Beyond this, most symptoms are generally lumped into two categories.

Respiratory Symptoms

Stuffy nose, coughing and wheezing, especially involving thick mucus production
Difficulty breathing
Inability to exercise without becoming tired
Frequent lung infections

Digestive Symptoms

Constipation, sometimes extreme
Abnormally foul-smelling stools
Poor growth habits in children
Intestinal blockages

Complications from cystic fibrosis are also split into these same categories, but another category exists for potential issues in the reproductive system. Respiratory complications can range from nasal polyps to respiratory failure, and a somewhat common digestive complication is diabetes (about 30 percent of cystic fibrosis patients contract diabetes by their 30th birthday). Many people with cystic fibrosis are completely infertile, including nearly 100 percent of men.

Care

In modern times, most cases of cystic fibrosis are diagnosed within the first month of a child’s life before they begin to develop symptoms. From here, constant vigilance is the number one priority. Frequent check-ups are recommended, and doctors will work with individual patients to determine treatment plans. Efforts are generally aimed at reducing infections and mucus build ups, as well as eliminating blockages.

Certain medications are common for cystic fibrosis patients, mainly antibiotics and anti-inflammatory drugs. Some patients use specialized inhalers or mucus-thinning medications to help keep the lungs as healthy as possible, and others use supplements to replace enzymes the body isn’t able to produce at full strength.

In certain cases, other procedures are part of the process. Forms of physical therapy and rehabilitation have proven useful to many people in managing daily symptoms, and many patients even seek counseling to help manage the mental health issues accompanied with the disease. Certain complications from cystic fibrosis may require surgery.