Cystic fibrosis

Overview

Cystic fibrosis is a hereditary metabolic disorder. It causes the body to produce thick and sticky mucus that can clog the bronchial tubes, lungs and digestive tract. This causes coughing, frequent respiratory tract infections and digestive problems. Babies with cystic fibrosis fail to thrive. At present, the average life expectancy is 45 years.

Symptoms

The disease is often diagnosed in newborns or early childhood
First symptoms

• Frequent respiratory tract infections
• Poor weight gain (failure to thrive)
• Constipation, bulky stools

Symptoms over time

• General
  • Pale skin
  • Fatigue, lethargy
  • Concentration difficulties
  • Malnutrition
  • Reduced physical capacity
• Airways (nose, sinuses, bronchial tubes, lungs)
  • Mucus: sticky, concentrated, yellowish-green
  • Chronic coughing
  • Shortness of breath
  • Frequent infections of the upper respiratory tract (e.g. colds, sinusitis)
  • Frequent infections of the lower respiratory tract (e.g. bronchitis, pneumonia)
• Digestive organs (pancreas, gallbladder, liver, bowel)
  • Bloating
  • Greasy stools
  • Clay-coloured stools
  • Diarrhoea
  • Constipation
  • Abdominal pain

Long-term damage

• Pulmonary dysfunction (asthma, pulmonary emphysema, lung failure)
• Cardiac insufficiency
• Diabetes
• Biliary drainage disorders
• Liver dysfunction (liver cirrhosis)
• Bowel infections
• Intestinal obstruction
• Fertility problems, sterility (men)

Causes and treatment

Causes

• Genetic condition (hereditary gene mutation)

Further treatment by your doctor / in hospital

Possible tests

• Amniocentesis during pregnancy
• Newborn screening (routine for all newborns)
• Sweat test (measurement of chloride concentration in sweat)
• Blood test (DNA mutation analysis and many others)
• Lung function test (progress assessment)
• Imaging tests
  • Chest x-ray
  • CT scan (computed tomography)

Possible therapies

• Physiotherapy (tapping massage, breathing exercises, sports therapy)
• Medication, supplements
  • Digestive enzymes
  • Vitamins (fat-soluble)
  • Inhalation therapy several times a day
  • Expectorants
  • Antibiotics for respiratory tract infections
  • Vaccinations
• Oxygen therapy
• Treatment of secondary diseases, e.g. diabetes
• Psychological and psychosocial counselling (whole family)
• Last resort: lung/liver transplant

What can I do myself?

• Regular exercise (strengthening of body and respiratory muscles)
• High-fat and high-calorie diet
• Join a self-help group

When to see a doctor?

• Breathing problems
• Frequent respiratory tract infections
• Chronic coughing
• Underweight, failure to thrive
• Light-coloured or greasy stools

Patients require special treatment for life

Further information

Selbsthilfe Schweiz (Self-Help Support Switzerland)
www.selbsthilfeschweiz.ch

Schweizerische Gesellschaft für Cystische Fibrose, CFCH (Swiss Society for Cystic Fibrosis)
www.cfch.ch

Synonyms

cystic fibrosis, mucoviscidosis, CF