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Clinical Updates


Cystic fibrosis: symptoms and treatment

Stanford Hospital’s Adult Cystic Fibrosis Clinic – Molly Pam’s Story

Meghan: Living with Cystic Fibrosis

Sisters Story: Cystic Fibrosis and Lung Transplantation at Stanford

What Is Cystic Fibrosis?

What is Cystic Fibrosis (CF)?

Cystic Fibrosis (CF) is a genetic, progressive condition causing chronic lung infections and affecting the ability to breathe normally. People with CF have a mutated cystic fibrosis transmembrane conductance regulator (CFTR) gene which causes the CFTR protein to become dysfunctional. The mutated protein is unable to move chloride to the cell surface due to which the mucus in various organs become thick and sticky.

In the lungs, the mucus buildup attracts bacteria thereby leading to chronic inflammation and infections. In the liver, the bile duct can get block causing liver disease. In the pancreas, the thick mucus prevents the release of important digestive enzymes inhibiting the body’s ability to absorb nutrients.

Currently there is no cure for CF. Management involves preventing infections and clearing lung passages for easy breathing.

In India, CF is a rare disease affecting 1 in 40,000 individuals.
CF is inherited in an autosomal recessive pattern which means two copies of the mutated gene is needed to cause the disease. An affected individual inherits the gene from both parents. Every child of an affected parent has a 25% chance of inheriting the disease gene. There are nearly 2000 known disease causing mutations of the CFTR gene. Each mutation has a different effect on the CFTR protein. The most common CFTR mutation involves a part which is missing.
Symptoms depend on the severity of the mutation and often appears in infancy, childhood, adolescence or adulthood. People with CF often have elevated salt levels in their sweat thereby emitting a salty odor about them. Signs and symptoms relate to the respiratory and digestive system. In adults, atypical symptoms include recurring pneumonia, pancreatitis and male infertility.
  • Respiratory symptoms: persistent cough with thick mucus, wheezing, breathlessness, inflamed nasal passages and frequent infections
  • Digestive symptoms: greasy stools, poor growth, intestinal blockage, severe constipation, diabetes

In countries like the US, newborn screening usually checks for higher than normal levels of the chemical (immunoreactive trypsinogen or IRT) released by the pancreas. Other genetic tests may also be used to confirm a diagnosis.

Older children and adults may be asked to do other tests like sweat tests, CBC, infection counts and bronchoscopy.

However, only a genetic test can confirm the diagnosis and related mutation.

Currently, no permanent cure is available for CF though many experimental research studies are in progress. Treatment is aimed at preventing complications and enhancing quality of life as long as possible. An interdisciplinary team of doctors including pulmonologists, gastroenterologists and endocrinologists will be required to take care of the clinical needs of the individual. The objectives of CF treatment include:

  • preventing and controlling lung infections
  • removing mucus from respiratory passages
  • preventing and treating intestinal blockages
  • providing proper nutrition

Medications may include antibiotics, anti-inflammatory drugs, mucus thinning drugs, bronchodialators to keep the airways clear and pancreatic enzymes.

Certain gene mutations of CF respond well to a new drug approved by the FDA in 2012 known as ivacaftor. This drug improves lung function, nutritional absorption and reduces the salt in sweat. The drug can be used by children older than 6 years of age.

For people with other types of gene mutations, another drug called Orkambi is used. This drug combines ivacaftor with lumacaftor. The drug can be used by children above 12 years of age.

Other treatment modalities involve chest therapy to clear the mucus in the lungs. This can also be done through a suction device. Oxygen therapy, feeding tube for better nutrition and bowel surgery may be required for some patients. In some cases, a lung transplant is usually recommended if the CF becomes severe.

Living with CF is often traumatic not just for the affected individual but for the families and caregivers. People with CF should connect with other affected individuals to gain a sense of solidarity. Patient groups often provide such group support. People with CF must get adequate nutrition with a healthy diet and sufficient calories. Most people with CF require a pancreatic enzyme to aid digestion and proper nutritional absorption. Doctors also include:
  • antacids
  • high-calorie nutritional supplements
  • fat-soluble vitamins
  • extra fiber
  • sufficient water
  • extra salt
It is important for people with CF to take care of their immunizations especially the pneumonia vaccine. They should stay away from diesel fumes, pollution and cigarette smoke. Regular exercise is a must to keep the mucus from blocking organs. It is important to stay away from infections.

If there is a known case of CF in the family, it is essential for closest relatives like siblings, uncles, aunts and cousins to test. Many chose not to test to avoid the emotional trauma though.

If a woman with a CF carrier status is pregnant, prenatal test is essential to determine if the fetus has the disease mutation in case the partner also carries the CF mutation.