Cystic Fibrosis

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What is Cystic Fibrosis? Cystic Fibrosis is an inherited life-threatening disorder that damages the human lungs and digestive system. It affects the cells that produce mucus, sweat, and digestive juices resulting in the buildup of thick sticky mucus that can damage many body organs. Complications If cystic fibrosis is not taken care of properly, it […] Read More

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Cystic Fibrosis

What is Cystic Fibrosis? Cystic Fibrosis is an inherited life-threatening disorder that damages the human lungs and digestive system. It affects the cells that produce mucus, sweat, and digestive juices resulting in the buildup of thick sticky mucus that can damage many body organs. Complications If cystic fibrosis is not taken care of properly, it can lead to severe health difficulties and can result in death. Such problems include:
  • Infertility in both males and females.
  • Growth malfunctioning
  • Malnutrition
  • Dehydration
  • Bloody cough
  • Nasal polyps, as well as sinusitis.
  • Chronic respiratory failure
  • Intestinal blockage, gallstones, and rectal prolapse.
  • Diabetes
  • Biliary cirrhosis, pancreatitis, and liver failure.
Diagnosis To confirm the presence of cystic fibrosis in a patient, the following tests can be used for diagnosis:
  1. Immunoreactive Trypsinogen (IRT) level test for infants.
  2. Sweat test.
  3. Genetic test.
Consult with a specialist for these tests. Treatment There is no cure for cystic fibrosis, but treatment can ease symptoms, reduce complications, and improve life quality. Treatments are targeted at:
  • Preventing and controlling infections in the lungs.
  • Removing mucus from the lungs.
  • Treating and preventing blockage in the intestine.
  • Providing adequate nutrition.
Medication  The following medications are used to control the condition:
  1. Medications that target gene mutation and treat the most common genetic mutation causing cystic fibrosis.
  2. Antibiotics to treat and prevent lung infection.
  3. Anti-inflammatory drugs to lessen swelling in the airways.
  4. Mucus-thinning drugs to help cough out the mucus such as hypertonic saline.
  5. Inhalers, called “bronchodilators” to help keep the airways open by relaxing the bronchial muscles.
  6. Acid-reducing medications.
  7. Oral pancreatic enzymes to help absorb nutrients.
  8. Stool softeners to prevent constipation.
  9. Specific drugs for diabetes or liver diseases.
  10. In cases of gene mutations, CFTR modulators may be recommended. 
Medications approved for people with one or more mutations of the CFTP gene are as follows:
  • For 6 months and above; Kalydeco, which contains ivacaftor.
  • For 6 years and above; Symdeko, which is a combination of tezacaftor and ivacaftor.
  • For 12 years and above; Trikaftor, a new combination medication of elexacaftor, tezacaftor, and ivacaftor.
While on these medications, patients are to be under close watch by medical experts, as well as keep up with follow-up appointments, for continuous and consistent monitoring.
  1. Airways Clearance Techniques
  • Vest Therapy or Cystic Fibrosis Physical Therapy (CPT)
This therapy helps reduce the infection or inflammation in the airways by loosening the thick mucus in the lungs. It is worn as a vest and has a nasal tube connected to the nose.
  • Oxygen and Non-invasive Ventilation Therapy
This helps to keep the airways with enough oxygen and prevent choking.
  • Pulmonary Rehabilitation
This is a long-term therapy program to improve the lungs.
  1. Surgical Procedure
  2. Feeding tube, inserted permanently into the bowels to feed meals directly into to stomach to prevent choking.
  3. Nasal and sinus surgery.
  4. Bowel surgery
  5. Lung transplant.
  6. Liver transplant.
Life Expectancy  Cystic Fibrosis is a life-threatening condition that begins from birth and continues for a lifetime because there is no cure for it. Therefore, patients have to be placed on management and control treatments from birth.  If not handled properly and complications such as nasal blocks, lung and liver damage due to excessive formation of sticky mucous membranes which no longer respond to therapy leading to a chronic respiratory failure occurs, it can lead to death at an early age, or before the child gets to adulthood. However, the life expectancy of cystic fibrosis, if managed and controlled well enough is between 40 to 50 years. This is the case for developed countries that have advanced their treatment procedures for this condition. Cystic fibrosis can affect the psychological health of a patient and so, it is recommended that asides from treatments, patients should enroll in psychotherapy sessions and meet people suffering from the same condition to give them a platform to share their experiences, get rid of depression, find hope, and lead better happier lives.

Symptoms

Symptoms

The majority of CF cases are identified shortly after the delivery of a newborn baby. Signs and symptoms vary depending on the severity of the disease. Such signs are:

  1. A constant cough that produces thick mucus
  2. Wheezing
  3. Sweat appears very salty
  4. Poor growth
  5. Weight gain
  6. Greasy, smelly stools that are bulky and pale-colored.
  7. Exercise intolerance
  8. Recurrent lung infections
  9. Inflamed nasal passages 
  10. Stuffy nose
  11. Sinusitis; a condition in which the cavities around the nasal passage becomes inflamed, either triggered by a cold or allergies and may resolve on its own.

Causes

What Causes Cystic Fibrosis?

The rare genetic disorder is caused by the mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which provides instruction to make the important cystic fibrosis transmembrane conductance regulator (CFTR) protein.

Thus, the protein is made with errors or not made at all and this leads to the build-up of thick sticky mucus in and around different organs. This causes persistent lung infections and limits the ability to breathe in the cause of time.

As an inheritance, this defect is transferred from one or both parents, who is a recessive carrier of the mutated gene, to the newborn baby. In the child, the genetic mutation becomes active and causes the condition.

FAQ

Is it possible to have mild cystic fibrosis?

Atypical CF is a mild form of cystic fibrosis disorder and those suffering from this type of CF, unlike the classic CF patients, may only have a mild dysfunction in one organ system and may or may not have high sweat chloride levels. 

How does cystic fibrosis affect the body?

Cystic fibrosis causes the secretion of unusually thick, dehydrated, and sticky mucus blocking the airways, pancreatic ducts, sweat ducts, sinuses, and bowels, resulting in lung infections, inflamed nasal passages, stuffy nose, and breathing difficulties. Other complications may follow.

What does cystic fibrosis poop look like?

Large greasy stools.

Do they test for CF at birth?

Yes. Newborn Screening (NBS) for cystic fibrosis is done in the first few days after birth. Early diagnosis helps parents to learn ways to keep their infected child healthy and to give treatments that will enable them to live better lives.

Is Cystic Fibrosis permanent?

CF is an inherited, life-long disease. It has no cure, but can be adequately managed. These infections cause chronic coughing, wheezing, and inflammation, resulting in permanent lung damage including the formation of scar tissue (fibrosis) and cysts in the lungs.