Understanding cystic fibrosis and its causes, complications

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 attend school and work, and have a better quality of life than in previous decades.

With screening the condition can be diagnosed within the first month, 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. Parents often can taste the salt when they kiss their children.

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

Digestive signs and symptoms

The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small intestine.

Without these digestive enzymes, 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

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 possibly pass the gene to their own 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.

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). Nasal polyps can obstruct 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. Pneumothorax 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.

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 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.

Reproductive system complications

• Almost all men with cystic fibrosis are infertile because the tube that connects the testes and prostate gland (vas deferens) 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 than other women, it’s possible for them to conceive and to have successful pregnancies. Still, pregnancy can worsen the signs and symptoms of cystic fibrosis.

Treatment

There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications. Close monitoring and early, aggressive intervention is recommended.

Managing cystic fibrosis is complex, 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.
• 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 makes it easier to cough up. 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.