Cystic Fibrosis

What is cystic fibrosis? Everything you need to know about its causes, symptoms, and the best treatments for this condition.

Symptoms and Causes

Cystic fibrosis is a hereditary disease that primarily causes chronic infections in the respiratory tract but can also damage the pancreas, intestines, or liver. Affected individuals have a mutation in the gene that regulates CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), located on chromosome 7. This protein is responsible for helping chloride ions exit the outer membrane of the cell. This mutation causes the body to produce thick, sticky mucus that clogs the ducts instead of the normal, thin, slippery mucus that lubricates them.

It is a recessive genetic disorder, meaning that both parents must be carriers of the disease for their child to have CF.

Today, cystic fibrosis is diagnosed in newborns. Early care has significantly improved patients' quality of life, and new treatments have recently emerged, increasing life expectancy.

Symptoms

Symptoms vary depending on the organs affected by cystic fibrosis. In cases of pulmonary cystic fibrosis, mucus clogs the airways and causes:

Persistent cough with sputum
Sinusitis
Wheezing
Nasal congestion
Recurrent lung infections
Fatigue

When the disease affects the digestive system (pancreatic or intestinal cystic fibrosis), the pancreatic duct becomes blocked, preventing enzymes from reaching the duodenum properly. This leads to the following symptoms:

Abdominal pain
Mucus-filled, foul-smelling stools
Intestinal obstruction
Chronic constipation
Weight loss

Cystic fibrosis in babies presents with specific symptoms:

Delayed growth
Salty-tasting skin
No bowel movements within the first 48 hours of life

Causes

Cystic fibrosis is a genetic disorder inherited in an autosomal recessive pattern. This means the disease develops when a person inherits one copy of the faulty gene from both their mother and father. In many cases, parents do not show symptoms because they carry only one copy of the gene, making them asymptomatic carriers.

Risk Factors

The main risk factor is having a family history of the disease or being a carrier of the gene.

Complications

When cystic fibrosis is severe or not properly managed, complications may arise, such as:

Respiratory infections
Pneumothorax
Coughing up blood
Intestinal obstruction
Rectal prolapse
Diabetes
Liver failure
Infertility
Nutritional deficiencies

Prevention

Since cystic fibrosis is a hereditary disease, it cannot be prevented. However, if one partner is known to be a carrier or has a family history of the disease, genetic testing can be performed before planning a pregnancy.

Which Doctor Treats Cystic Fibrosis?

Cystic fibrosis is diagnosed and treated by pulmonologists. In advanced or severe cases, palliative care specialists support patients throughout their illness.

Diagnosis

In Spain, all newborns undergo a neonatal screening test, known as the heel prick test, within the first 48 to 72 hours of life. This test detects cystic fibrosis among other metabolic diseases. Early diagnosis allows for the initiation of treatments that prevent complications and significantly increase life expectancy.

If there is no prior diagnosis, doctors typically use:

Sweat test: Measures the amount of salt in sweat, as high levels are a common sign of cystic fibrosis.
Stool analysis: Checks for chymotrypsin levels in feces.
Imaging tests: X-rays, ultrasounds, or CT scans to assess organ health and determine disease severity.

Treatment

Currently, there is no cure for cystic fibrosis. However, treatments can reduce symptoms and lower the risk of complications. The primary goal is to prevent infections, reduce mucus buildup in the lungs, and prevent malnutrition.

The most effective treatment options include: