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Cystic Fibrosis

Cystic Fibrosis

What you need to know
about Cystic Fibrosis

Cystic fibrosis (CF) is a hereditary illness, meaning you get it from your parents. It alters the way your body produces mucus, a substance that aids the function of your organs and systems. The mucus should be thin and slippery, but it thickens and becomes glue-like when you have CF. This obstructs tubes and ducts all over your body.

This viscous mucus builds up inside your airways over time. It’s difficult to breathe because of this. Mucus traps microorganisms, resulting in illnesses. It can also produce cysts (fluid-filled sacs) and fibrosis in the lungs (scar tissue). That’s how the acronym CF came to be.

Cystic fibrosis affects around 10,600 persons in the United Kingdom, or one in every 2,500 newborns born. Around 100,000 people worldwide suffer from cystic fibrosis.

Cystic Fibrosis Symptoms

The following are some of the symptoms that people with CF may experience:

  • Trouble with bowel movements, constipation issues or oily stools on a regular basis
  • Breathing problems or wheezing
  • Lung infections are common
  • Infertility, especially in men, is a common problem.
  • Having difficulty gaining weight or growing
  • Skin with a strong salty taste

Cystic Fibrosis Causes

An alteration, or mutation, in the CFTR gene, causes cystic fibrosis (cystic fibrosis transmembrane conductance regulator). The passage of salt and fluids into and out of your cells is controlled by this gene. A sticky mucus forms in your body if the CFTR gene does not function properly.

You must inherit the mutant copy of the gene from both of your parents to develop CF. 90% of people with the F508del mutation have at least one copy.

If you only have one copy of the gene, you will not develop symptoms, but you will be a carrier of the disease. That means it’s possible you’ll be able to pass it down to your children.

The CF gene is carried by more than 2 million healthy persons in the UK (about 1 in 25). This information will assist you in comprehending the significance of your baby’s screening result.

Cystic Fibrosis Diagnosis

Early detection means earlier treatment and improved long-term health.

Newborn screening and diagnosis

Every county in the United Kingdom now conducts routine cystic fibrosis screenings on newborns. Because of the early detection, treatment can begin right away.

  • A blood test. This test measures the amount of immunoreactive trypsinogen (IRT) in the body, a substance generated by the pancreas, in one screening test. Because of early birth or a difficult delivery, a newborn’s IRT levels may be elevated. As a result, more testing may be required to confirm a cystic fibrosis diagnosis.
  • A DNA test. Doctors may also suggest genetic testing to look for particular mutations in the gene that causes cystic fibrosis. In addition to evaluating IRT levels, genetic studies may be utilised to confirm the diagnosis.
  • A sweat test. Doctors may do a sweat test on a newborn who is at least 2 weeks old to see if he or she has cystic fibrosis. A substance that causes sweating is administered to a small patch of skin. The sweat is then collected and tested to see if it is saltier than usual. Testing in a Cystic Fibrosis Foundation-accredited care centre helps assure accurate results.

Testing of older children and adults

For older children and people who were not screened at birth, cystic fibrosis tests may be recommended. If you have an irritated pancreas, nasal polyps, persistent sinus or lung infections, bronchiectasis, or male infertility, your doctor may recommend genetic and sweat tests for CF.

When should you see a Doctor?

If you or your kid are experiencing signs of cystic fibrosis, or if someone in your family has the disease, consult your doctor about getting tested. Consult a doctor who is familiar with CF.

Cystic fibrosis necessitates at least three months of steady, regular follow-up with your doctor. If you notice any new or worsening symptoms, such as more mucus than normal or a change in the colour of your mucus, a lack of energy, weight loss, or severe constipation, see your doctor.

If you’re coughing up blood, have chest pain or difficulty breathing, or have severe stomach pain and distention, seek medical help immediately.

Cystic Fibrosis Risk Factors

Cystic fibrosis is a genetic disease that runs in families, therefore having a family history of CF is a risk factor. Although CF affects people of many colours, it is most common in white Northern Europeans.

Treatment

Although cystic fibrosis has no cure, medication can help to alleviate symptoms, prevent complications, and enhance the quality of life. To decrease the progression of CF, close monitoring and early, vigorous management is recommended, which can lead to a longer life.

Because cystic fibrosis management is complicated, you should seek treatment from a centre that has a multispecialty team of doctors and medical experts who are trained in CF diagnosis and therapy.

The following are some of the therapy goals:

  • Infections in the lungs can be prevented and controlled.
  • Getting rid of and loosening mucus in the lungs.
  • Intestinal obstruction treatment and prevention.
  • Ensuring appropriate dietary intake.

Medications

Among the possibilities are:

  • Medications that target gene mutations, such as a new therapy that combines three treatments to treat the most prevalent genetic mutation that causes CF, which is seen as a big breakthrough in treatment.
  • Antibiotics are used to treat and prevent infections in the lungs.
  • Anti-inflammatory drugs can help reduce swelling in your lungs’ airways.
  • Mucus-thinning medications, such as hypertonic saline, can aid in coughing up mucus and enhance lung function.
  • Bronchodilators are inhaled drugs that assist keep your airways open by relaxing the muscles surrounding your bronchial passages.
  • Oral pancreatic enzymes aid nutrient absorption in the digestive tract.
  • To avoid constipation or intestinal obstruction, use stool softeners.
  • Acid-reducing drugs can help pancreatic enzymes perform more efficiently.
  • When diabetes or liver disease is present, specific medicines are prescribed.

Medications that target genes

Doctors may prescribe cystic fibrosis transmembrane conductance regulator (CFTR) modulators to people with cystic fibrosis who have particular gene mutations. These newer drugs aid in the improvement of the defective CFTR protein’s function. They may help with lung function and weight loss, as well as lowering sweat salt levels.

These medications help people with CF who have one or more mutations in the CFTR gene:

  • Many specialists consider the new combination treatment Trikafta, which contains Elexacaftor, Ivacaftor, and Tezacaftor, to be a breakthrough. It is approved for people aged 12 and up.
  • Symdeko, a Tezacaftor and Ivacaftor combination medicine, has been approved for people aged 6 and up.
  • Orkambi, a combination drug combining lumacaftor and ivacaftor, is licenced for people aged 2 and up.
  • For people aged 6 months and up, Ivacaftor.

Before giving these medications, doctors may order liver function tests and eye exams. Regular testing is required when taking these medications to look for adverse effects such as liver function problems and cataracts. Inquire with your doctor and pharmacist about possible side effects and what to look out for.

Maintain regular follow-up appointments with your doctor so that he or she can keep an eye on you while you’re on these meds. Any side effects you have should be discussed with your doctor.

Airway clearance techniques

Vest therapy

A respiratory therapist discusses inflatable vest therapy with an adult with cystic fibrosis using a tailored approach.

Airway clearance procedures, commonly known as chest physical therapy (CPT), can help to clear mucus from the airways and minimise infection and inflammation. These strategies help to release the heavy mucus in the lungs, making coughing easier.

Several times a day, airway cleaning methods are used. To loosen and eliminate mucus, many types of CPT can be utilised, and a mix of treatments may be indicated.

  • Clapping with cupped hands on the front and rear of the chest is a typical technique.
  • Mucus can also be loosened with certain breathing and coughing motions.
  • Lung mucus can be loosened by mechanical instruments. A tube through which you blow and a machine that pulses air into your lungs are examples of devices (vibrating vest). Mucus can also be cleared through vigorous exercise.

The type and frequency of chest physical therapy that is appropriate for you will be determined by your doctor.

You can use a home nebulizer, commonly known as a breathing machine, to give your child (typically children under the age of 4) asthma treatments. By converting asthma medications, mainly bronchodilators, from a liquid to a mist, a nebulizer can deliver them. The medicine is breathed in by your youngster through a face mask. These breathing treatments normally last 10 to 15 minutes and can be repeated numerous times throughout the day.

To use the nebulizer, follow these steps:

  • Wash your hands.
  • Fill the nebulizer with the medication.
  • Connect the compressor’s tubes to the base.
  • Place the mouthpiece or mask in place.
  • When the compressor is turned on, the nebulizer should emit a light mist.
  • Place the mask on your child’s face, or place the mouthpiece in their mouth and wrap their lips around it.
  • Allow them to breathe in and out for the duration of their treatment.
  • When the drug has been used up, turn the nebulizer off.
  • Get your child to cough to get any mucus out of their system.

Pulmonary rehabilitation

Your doctor may suggest a long-term treatment plan to help you improve your lung function and general health. Pulmonary rehabilitation is usually done as an outpatient and may involve the following activities:

  • Physical activity that may help you feel better
  • Breathing strategies that may aid in the removal of mucus and the improvement of breathing
  • Nutritional guidance
  • Counselling and assistance
  • Education about your illness

Surgical and other procedures

The following are some of the treatment options for cystic fibrosis-related conditions:

Nasal and sinus surgery

Surgery on the nose and sinuses. If you have nasal polyps that are obstructing your breathing, your doctor may consider surgery to remove them. Recurrent or chronic sinusitis can be treated by sinus surgery.

Oxygen therapy

The use of oxygen as a treatment. If your blood oxygen level drops, your doctor may advise you to breathe pure oxygen to avoid pulmonary hypertension (pulmonary hypertension).

Noninvasive ventilation

Ventilation that isn’t intrusive. Noninvasive ventilation, which is most commonly used while sleeping, uses a nose or mouth mask to produce positive pressure in the airway and lungs while you breathe in. It’s frequently used in tandem with oxygen therapy. Noninvasive ventilation can improve air exchange in the lungs while reducing the amount of work required to breathe. The treatment may also aid in the clearing of the airways.

Feeding tube

Tube for feeding. Because cystic fibrosis affects digestion, it makes it difficult to absorb nutrients from meals. A feeding tube may be recommended by your doctor to provide additional nutrition. This tube could be a temporary tube that is placed into your nose and guided to your stomach, or it could be surgically installed in your belly. The tube can be used to provide additional calories at any time of day or night, and it does not inhibit mouth-to-mouth feeding.

Bowel surgery

Surgery on the intestines. If a blockage forms in your bowel, surgery may be required to remove it. Intussusception, a condition in which a portion of the intestine has telescoped inside another section of the intestine, may also necessitate surgical intervention.

Lung transplant

Transplantation of the lungs. Lung transplantation may be an option if you have significant breathing issues, life-threatening lung complications, or developing resistance to medications for lung infections. Both lungs must be replaced because germs line the airways in disorders that cause persistent enlargement of the major airways (bronchiectasis), such as cystic fibrosis.

In transplanted lungs, cystic fibrosis does not reoccur. After a lung transplant, however, other CF issues such as sinus infections, diabetes, pancreatic problems, and osteoporosis might still arise.

Liver transplant

Transplantation of the liver. A liver transplant may be a possibility for severe cystic fibrosis-related liver illness, such as cirrhosis. A liver transplant may be paired with a lung or pancreas transplant in some persons.

Cystic Fibrosis Complications

The respiratory, digestive, and reproductive systems, as well as other organs, might be affected by cystic fibrosis complications.

Respiratory system complications

Damaged airways (bronchiectasis)

Airways that have been damaged (bronchiectasis). Cystic fibrosis is one of the most common causes of bronchiectasis, a chronic lung disease characterised by aberrant airway widening and scarring (bronchial tubes). It becomes more difficult to flow air in and out of the lungs and remove mucus from the bronchial tubes as a result of this.

Chronic infections

Infections that last a long time. In the lungs and sinuses, thick mucus serves as a perfect breeding environment for bacteria and fungi. Sinus infections, bronchitis, and pneumonia are common in cystic fibrosis patients. It is typical to become infected with bacteria that are resistant to antibiotics and difficult to treat.

Growths in the nose (nasal polyps)

Nasal enlargement (nasal polyps). Because the lining of the nose is inflamed and swollen, soft, fleshy growths can form (polyps).

Coughing up blood (hemoptysis)

Bronchiectasis can develop in the lungs around blood vessels. Coughing up blood can be caused by a combination of airway injury and infection. It’s usually only a small amount of blood, but it can still be fatal.

Pneumothorax

Air escapes into the gap between the lungs and the chest wall in this condition, and part or all of a lung collapses. Adults with cystic fibrosis are more likely to experience this. Pneumothorax can cause severe chest pain and shortness of breath. A bubbling sensation in the chest is very common.

Respiratory failure

Cystic fibrosis can cause lung tissue to deteriorate to the point that it no longer functions. Lung function often deteriorates over time, and it can potentially become life-threatening. The most common cause of death is respiratory failure.

Acute exacerbations

Cystic fibrosis patients may have worsening respiratory symptoms such as coughing up more mucus and shortness of breath. This is known as an acute exacerbation, and it necessitates antibiotic treatment. Treatment can sometimes be done at home, but in some cases, hospitalisation is required. Exacerbations are also associated with decreased energy and weight loss.

Digestive system complications

Nutritional deficiencies

Deficiencies in nutrition The tubes that deliver digestive enzymes from your pancreas to your intestines can become clogged with thick mucus. Your body can’t absorb protein, lipids, or fat-soluble vitamins without these enzymes, so you won’t obtain adequate nutrition. This can lead to stunted growth, weight loss, or pancreatic inflammation.

Diabetes

Insulin is produced by the pancreas and is required by your body to use sugar. Diabetes is more common in people with cystic fibrosis. Diabetes affects about 20% of teenagers and 40% to 50% of adults with cystic fibrosis.

Liver disease

It’s possible that the tube that transports bile from your liver and gallbladder to your small intestine becomes clogged and irritated. This can cause jaundice, fatty liver disease, cirrhosis, as well as gallstones in some cases.

Intestinal obstruction

Obstruction of the intestine. People with cystic fibrosis can develop intestinal obstruction at any age. Intussusception is a condition in which a portion of the intestine slides within another section of the intestine like a collapsible telescope.

Distal intestinal obstruction syndrome (DIOS)

DIOS is a condition in which the small intestine meets the large intestine and is partially or completely obstructed. DIOS necessitates immediate medical attention.

Reproductive system complications

Infertility in men

Infertility in men is a common problem. Almost all males with cystic fibrosis are infertile because the tube connecting the testes and prostate gland (vas deferens) is either mucus-clogged or completely absent. Men with CF can sometimes become biological fathers thanks to certain reproductive medicines and surgical procedures.

Reduced fertility in women

Women’s fertility is reduced. Despite the fact that women with cystic fibrosis are less fertile than ordinary women, they can still conceive and have good children. Still, pregnancy can exacerbate the signs and symptoms of CF, so talk to your doctor about the risks.

Other complications

Thinning of the bones (osteoporosis)

Cystic fibrosis patients are more likely to experience dangerous bone weakening. Joint discomfort, arthritis, and muscle pain are all possibilities.

Electrolyte imbalances and dehydration

Dehydration and electrolyte imbalances Because cystic fibrosis patients sweat more salt, the balance of minerals in their blood may be disrupted. They are more prone to dehydration as a result of this, especially when exercising or in hot weather. Increased heart rate, weariness, weakness, and low blood pressure are all signs and symptoms.

Mental Health

Problems with mental health. Fear, sadness, and anxiety may arise as a result of dealing with a chronic illness that has no treatment.

Prevention

If either you or your partner has a close relative with cystic fibrosis, you may want to consider genetic testing before starting a family. The test, which is done in a lab on a blood sample, can help you figure out your chances of having a child with CF.

If you’re already pregnant and a genetic test indicates that your baby has a chance of developing cystic fibrosis, your doctor can perform additional testing on your unborn child.

Not everyone is a candidate for genetic testing. Before you decide to get tested, speak with a genetic counsellor about the psychological implications of the results.