Pulmonology focuses on diagnosing and treating lung and airway conditions such as asthma, COPD, and pneumonia, as well as overall respiratory health.

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Respiratory Manifestations: The Primary Burden

The most noticeable and serious symptoms of cystic fibrosis are related to breathing. These problems usually start early in life, but the timing can differ. The main symptom is a constant, productive cough. Unlike a dry cough, this one is deep and rattling, as the body tries to move the thick mucus blocking the airways. Over time, the cough becomes a daily, ongoing problem.

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Bronchiectasis and Structural Damage

Ongoing infection and inflammation in the lungs cause bronchiectasis, where the airways become permanently damaged, wider, and thicker. This makes it even harder to clear mucus, and bacteria can grow in these areas. People may have wheezing and shortness of breath, first during activity and later even at rest. Air can get trapped in the lungs, which over time can cause the chest to become barrel-shaped.

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Pulmonary Exacerbations

People with cystic fibrosis often have flare-ups called pulmonary exacerbations, where symptoms suddenly get worse and need medical treatment. Signs include more frequent coughing, more mucus, a change in mucus color (darker green or brown), fever, loss of appetite, and lower lung function (FEV1). These episodes are important because they can cause lasting drops in lung function, which may not fully recover afterward.

Gastrointestinal and Nutritional Symptoms

The gastrointestinal tract is deeply affected, often from birth.

  • Meconium Ileus: In approximately 15 to 20 percent of newborns with CF, the meconium (first stool) is so thick and sticky that it blocks the ileum (lower small intestine), causing obstruction, distension, and failure to pass stool. This is a medical emergency often requiring surgery.
  • Steatorrhea: Due to pancreatic insufficiency, fat is not digested. This leads to frequent, bulky, greasy, floating, and foul-smelling stools. The loss of fat in stool also means the loss of calories, leading to malnutrition.
  • Failure to Thrive: Despite having a ravenous appetite, untreated infants and children often exhibit poor weight gain and stunted growth. The body is starving for energy because it cannot absorb the nutrients it consumes.
  • Distal Intestinal Obstruction Syndrome (DIOS): In older children and adults, thick partially digested food can block the intestines, causing severe abdominal pain, constipation, and distension. This is distinct from regular constipation and is a unique risk factor in CF.
  • Gastroesophageal Reflux Disease (GERD): This is extremely common and is exacerbated by coughing and pressure changes in the chest. Acid reflux can lead to aspiration and worsening lung disease.

Sinonasal Disease

The upper airways are a continuous part of the respiratory system and are universally involved.

  • Chronic Rhinosinusitis: The sinuses are filled with thick mucus, creating a reservoir for bacteria. Patients suffer from chronic nasal congestion, post-nasal drip, facial pain, and headaches.
  • Nasal Polyps: Fleshy, non-cancerous growths called polyps frequently develop in the nasal passages due to chronic inflammation. They can be large enough to block the nose completely, forcing mouth breathing and diminishing the sense of smell (anosmia).

Metabolic and Endocrine Risks

As people with cystic fibrosis live longer, metabolic problems have become more common and important to manage.

  • Cystic Fibrosis-Related Diabetes (CFRD): This is the most common comorbidity in adults with CF. It is caused by scarring of the pancreas, which destroys the insulin-producing islet cells (insulin deficiency), combined with a degree of insulin resistance during infections. It is distinct from Type 1 and Type 2 diabetes. Uncontrolled CFRD is a significant risk factor for weight loss and accelerated decline in lung function.
  • Bone Disease: Cystic fibrosis-related bone disease (osteopenia and osteoporosis) is common due to malabsorption of Vitamin D and calcium, chronic inflammation, and corticosteroid use. This increases the risk of fractures, particularly rib fractures from coughing or vertebral compression fractures.

Reproductive Risks

Problems with the reproductive system can cause a lot of emotional stress for people with cystic fibrosis.

  • Male Infertility: The congenital bilateral absence of the vas deferens (CBAVD) renders 98% of men with CF infertile (azoospermic). However, spermatogenesis (sperm production) is usually intact, allowing for biological fatherhood through sperm aspiration techniques.
  • Female Fertility: Women with CF are generally fertile but may have reduced fertility due to thick cervical mucus acting as a barrier to sperm and irregular ovulation caused by nutritional status or chronic illness. Pregnancy carries risks, particularly for women with low lung function (FEV1 < 50%), as the metabolic and respiratory demands of pregnancy can precipitate a decline in maternal health.

Hepatobiliary Symptoms

Liver disease in cystic fibrosis often has no symptoms at first but can become serious over time.

  • Focal Biliary Cirrhosis: The clogging of small bile ducts leads to localized scarring.
  • Multilobular Cirrhosis: Over time, scarring can bridge areas, leading to cirrhosis.
  • Portal Hypertension: Severe scarring increases pressure in the portal vein, leading to an enlarged spleen (splenomegaly) and varices (enlarged veins) in the esophagus, which can bleed.
  • Cholelithiasis: Gallstones are common, necessitating gallbladder removal in many patients.

Environmental and Lifestyle Risk Factors

Genetics cause cystic fibrosis, but environmental factors can make the disease better or worse.

  • Secondhand Smoke: Exposure to tobacco smoke is disastrous for CF lungs, accelerating the decline in lung function and increasing the frequency of infections.
  • Socioeconomic Status: Studies consistently show that lower socioeconomic status is associated with worse outcomes in CF, likely due to barriers in accessing the complex, expensive diet and medication regimen required.
  • Climate: Hot, humid climates pose a risk of heat prostration and hyponatremic dehydration due to excessive salt loss in sweat.
  • Adherence: The complexity of the treatment regimen is a risk factor in itself; non-adherence to the required daily therapy hours is a common cause of deterioration in health.

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FREQUENTLY ASKED QUESTIONS

Why does the skin taste salty?

The defective chloride channel in the sweat glands prevents salt from being reabsorbed back into the body as sweat travels to the skin surface, leaving a high salt concentration on the skin.

It is a period of worsening symptoms, more coughing, more mucus, fever, and weight loss that requires medical intervention, usually with antibiotics, to prevent permanent lung damage.

The thick mucus scars the pancreas over time, destroying the cells that make insulin; this leads to a unique type of diabetes that requires insulin for management.

They are not cancerous or life-threatening, but they block the nasal passages, making breathing difficult, reducing the sense of smell, and contributing to sinus infections.

In advanced lung disease, the low oxygen levels can cause the arteries in the lungs to constrict, putting strain on the right side of the heart, a condition called cor pulmonale.

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