What you need to know about cystic fibrosis

Cystic fibrosis is an inherited disorder that affects the cells that produce mucus, sweat and digestive juices leading to severe damage to the lungs and digestive system.

These secreted fluids are normally thin and slippery. But in people with cystic fibrosis, a defective gene causes the secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.

Due to advances in screening and treatment people with cystic fibrosis are able to have a better quality of life than in previous decades. The condition can be diagnosed within the first month of life, before symptoms develop.

Symptoms

The signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. Some people may not experience symptoms until adolescence or adulthood.

People with cystic fibrosis have a higher than normal level of salt in their sweat. Most of the other signs and symptoms of cystic fibrosis affect the respiratory system or the digestive system. However, adults with cystic fibrosis are more likely to have atypical symptoms, such as pancreatitis, diabetes and infertility.

Respiratory signs and symptoms

The mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your lungs. This can cause:

• A persistent cough that produces thick (sputum) mucus
• Wheezing (whistling sound when you breathe)
• Breathlessness
• Exercise intolerance
• Repeated lung infections
• Inflamed nasal passages or a stuffy nose

Picture: iStock

Digestive signs and symptoms

The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small intestine. Without these, your intestines can’t fully absorb the nutrients in the food you eat. The result is often:

• Foul-smelling, greasy stools
• Poor weight gain and growth
• Intestinal blockage, particularly in newborns
• Severe constipation which can lead to rectal prolapse

Causes

In cystic fibrosis, an abnormality in a gene changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat.

Children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only one copy, they won’t develop cystic fibrosis, but will be carriers and pass the gene to their children.

Complications

Respiratory system complications:

Damaged airways (bronchiectasis): a condition that damages the airways, making it harder to move air in and out of the lungs, and clearing mucus from their airways.

Chronic or recurrent infections: Thick mucus in the lungs and sinuses provides an ideal breeding ground for bacteria and fungi.

Growths in the nose (nasal polyps): Because the lining inside the nose is inflamed and swollen, it can develop soft, fleshy growths (polyps). These can obstruct your breathing during sleep.

Coughing up blood (haemoptysis): Over time, cystic fibrosis can cause thinning of the airway walls. As a result, teenagers and adults with cystic fibrosis may cough up blood.

Pneumothorax: This condition, in which air collects in the space that separates the lungs from the chest wall, is also more common in older people with cystic fibrosis. It can cause chest pain and breathlessness.

Respiratory failure: Over time, cystic fibrosis can damage lung tissue so badly that it no longer works. Lung function typically worsens gradually, and it eventually can become life-threatening.

Picture: iStock

Digestive system complications

Nutritional deficiencies: Thick mucus can block the tubes that carry digestive enzymes from your pancreas to your intestines. Without these enzymes, your body can’t absorb protein, fats or fat-soluble vitamins.

Diabetes: The pancreas produces insulin, which your body needs to use sugar. Cystic fibrosis increases the risk of diabetes.

Blocked bile duct: The tube that carries bile from your liver and gallbladder to your small intestine may become blocked and inflamed, leading to liver problems and sometimes gallstones.

Intestinal obstruction: Intestinal obstruction can occur at any age.

Distal intestinal obstruction syndrome (DIOS): DIOS is partial or complete obstruction where the small intestine meets the large intestine.

Electrolyte imbalances and dehydration: Because people with cystic fibrosis have saltier sweat, the balance of minerals in their blood may be upset. Signs and symptoms include increased heart rate, fatigue, weakness and low blood pressure.

Reproductive system complications

Almost all men with cystic fibrosis are infertile because the tube that connects the testes and prostate gland is either blocked with mucus or missing entirely. Certain fertility treatments and surgical procedures sometimes make it possible for men with cystic fibrosis to become fathers.

Although women with cystic fibrosis may be less fertile, it’s possible for them to conceive and to have successful pregnancies. Still, pregnancy can worsen the signs and symptoms of cystic fibrosis, so be sure to discuss the possible risks with your doctor.

Treatments and drugs

There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications. Close monitoring and early, aggressive intervention is recommended. It is therefore important that you see a specialist physician from the onset.

The goals of treatment include:

• Preventing and controlling lung infections
• Loosening and removing mucus from the lungs
• Preventing and treating intestinal blockage
• Providing adequate nutrition

Picture: Thinkstock

The medication options include:

• antibiotics to treat and prevent lung infections;
• mucus-thinning drugs to help you cough up the mucus, which improves lung function;
• bronchodilators to help keep your airways open by relaxing the muscles around your bronchial tubes and;
• oral pancreatic enzymes to help your digestive tract absorb nutrients.

Chest physiotherapy helps with loosening the thick mucus in the lungs. It is usually done from one to four times a day. A common technique is clapping with cupped hands on the front and back of the chest.

Mechanical devices can help loosen lung mucus. These include a vibrating vest or a tube or mask you breathe into. Your doctor may recommend a programme to improve your lung function and overall well-being.

Pulmonary rehabilitation is usually done on an outpatient basis and may include:

• Exercise training
• Nutritional counselling
• Breathing techniques
• Psychological counselling and group support

Surgical and other procedures are usually done as a last resort. They include:

Nasal polyp removal: Your doctor may recommend surgery.

Oxygen therapy: If your blood-oxygen level declines, your doctor may recommend you sometimes breathe pure oxygen to prevent high blood pressure in the lungs (pulmonary hypertension).

Endoscopy and lavage: Mucus may be suctioned from obstructed airways through an endoscope.

Feeding tube: Your doctor may suggest temporarily using a feeding tube to deliver extra nutrition while you sleep. This tube may be threaded through your nose to your stomach or surgically implanted into the abdomen.

Bowel surgery: If a blockage develops in your bowel, you may need surgery to remove it.

Lung transplant: If you have severe breathing problems, lung complications or resistance to antibiotics used to treat lung infections, lung transplantation may be an option. Because both lungs are affected. Fortunately the condition does not recur in transplanted lungs.

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