Cystic Fibrosis Clinical Presentation

  • Author: Girish D Sharma, MD; Chief Editor: Michael R Bye, MD   more...
 
Updated: May 15, 2012
 

History

Median age at diagnosis of cystic fibrosis is 6-8 months; two thirds of patients are diagnosed by 1 year of age. The age at diagnosis varies widely, however, as do the clinical presentation, severity of symptoms, and rate of disease progression in the organs involved. Clinical manifestations vary with the patient's age at presentation.

Neonates may present with meconium ileus or, rarely, with other features such as anasarca. Patients younger than 1 year may present with wheezing, coughing, and/or recurring respiratory infections and pneumonia. GI tract presentation in early infancy may be in the form of steatorrhea, failure to thrive, or both.

Patients diagnosed later in childhood or in adulthood are more likely to have pancreatic sufficiency and often present with chronic cough and sputum production. Approximately 10% of patients with cystic fibrosis remain pancreatic sufficient; these patients tend to have a milder course.

Gastrointestinal tract manifestations

Meconium ileus occurs in 7-10% of patients with cystic fibrosis. Patients with simple meconium ileus usually present with abdominal distension at birth, eventually progressing to failure to pass meconium, bilious vomiting, and progressive abdominal distension.

Patients with complicated meconium ileus present more dramatically at birth with severe abdominal distention, sometimes accompanied by abdominal wall erythema and edema. Abdominal distention may be severe enough to cause respiratory distress.

Other GI manifestations in neonates include intestinal obstruction at birth and various surgical findings (eg, volvulus, intestinal atresia, perforation, meconium peritonitis). Less commonly, passage of meconium may be delayed (>24-48 hours after birth) or cholestatic jaundice may be prolonged.

Infants and children present with increased frequency of stools, which suggests malabsorption (ie, fat or oil drops in stools), failure to thrive, intussusception (ileocecal), or rectal prolapse.

Patients with pancreatic insufficiency have fat-soluble vitamin deficiency and malabsorption of fats, proteins, and carbohydrates (however, malabsorption of carbohydrates is not as severe as that of fats and proteins). Patients present with failure to thrive (despite an adequate appetite), flatulence or foul-smelling flatus, recurrent abdominal pain, and abdominal distention.

Malabsorption results in steatorrhea, characterized by frequent, poorly formed, large, bulky, foul-smelling, greasy stools that float in water. Cloth diapers, if used, are difficult to clean. Alternatively, some patients have anorexia without obvious steatorrhea.

Patients may present with a history of jaundice or gastrointestinal tract bleeding as a result of hepatobiliary involvement.

Respiratory tract manifestations

Patients present with a chronic or recurrent cough, which can be dry and hacking at the beginning and can produce mucoid (early) and purulent (later) sputum. Prolonged symptoms of bronchiolitis occur in infants. Paroxysmal cough followed by vomiting may occur.

Recurrent wheezing, recurrent pneumonia, atypical asthma, pneumothorax, hemoptysis, and digital clubbing are all complications and may be the initial manifestation. Dyspnea on exertion, history of chest pain, recurrent sinusitis, nasal polyps, and hemoptysis may also occur.

Urogenital tract manifestations

Undescended testicles or hydrocele may be present in boys. Males are frequently sterile because of the absence of the vas deferens.

Fertility is maintained, although possibly decreased, in females. Secondary sexual development is often delayed. Amenorrhea may occur in females with severe nutritional or pulmonary involvement.

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Physical Examination

Physical signs depend on the degree of involvement of various organs and the progression of disease.

Nose examination may reveal the following:

  • Rhinitis
  • Nasal polyps

Findings related to the pulmonary system may include the following:

  • Tachypnea
  • Respiratory distress with retractions
  • Wheeze or crackles
  • Cough (dry or productive of mucoid or purulent sputum)
  • Increased anteroposterior diameter of chest
  • Clubbing
  • Cyanosis
  • Hyperresonant chest upon percussion (crackles are heard acutely in associated pneumonitis or bronchitis and chronically with bronchiectasis)

Findings related to the GI tract include the following:

  • Abdominal distention
  • Hepatosplenomegaly (fatty liver and portal hypertension)
  • Rectal prolapse
  • Dry skin (vitamin A deficiency)
  • Cheilosis (vitamin B complex deficiency)

Examination of other systems may reveal the following:

  • Scoliosis
  • Kyphosis
  • Swelling of submandibular gland or parotid gland
  • Aquagenic wrinkling of the palms (AWP)

One study reported an association between AWP and cystic fibrosis.[22] Among patients with cystic fibrosis, a greater degree of AWP is observed in patients who are homozygous for the ΔF508 mutation.

Meconium ileus

Often, examination reveals dilated loops of bowel with a doughy character that indent on palpation. The rectum and anus are usually narrow, a finding possibly misinterpreted as anal stenosis.

Signs of peritonitis include tenderness, abdominal wall edema, distention, and clinical evidence of sepsis. A palpable mass may indicate pseudocyst formation. Often, the neonate is in extremis and needs urgent resuscitation and surgical exploration.

Atypical manifestations

Clinical variants have been described, such as adult males with bilateral absence of the vas deferens who have little other clinical involvement. Absence of the vas deferens is considered an atypical presentation of cystic fibrosis, and 80% of men with this presentation have at least one CFTR gene mutation. Zielenski et al reported that the most common of these mutations is the IVS8/5T mutation.[23]

Another atypical manifestation of cystic fibrosis is polyuria and polyphagia in an infant. Despite not having any initial intestinal symptoms, such as diarrhea, an infant in Belgium with failure to thrive was initially treated for diabetes insipidus before being diagnosed with cystic fibrosis.[24] Although a sweat test result may be abnormal in diabetes insipidus, cystic fibrosis must be excluded upon any positive sweat test result.

Complications

The following are potential complications of cystic fibrosis:

  • Nasal polyps
  • Chronic and persistent sinusitis with complications such as mucopyocele formation
  • Bronchiectasis
  • Atelectasis
  • Pneumothorax
  • Hemoptysis
  • Hypertrophic pulmonary osteoarthropathy
  • Allergic bronchopulmonary aspergillosis (ABPA)
  • Gastroesophageal reflux
  • Pulmonary hypertension
  • Cor pulmonale
  • End-stage lung disease
  • Pancreatitis
  • Cystic fibrosis–related diabetes mellitus
  • Meconium ileus
  • Distal intestinal obstruction syndrome
  • Rectal prolapse
  • Vitamin deficiency (especially fat-soluble vitamins)
  • Fatty liver
  • Focal biliary cirrhosis
  • Portal hypertension
  • Liver failure
  • Cholecystitis and cholelithiasis
  • Rickets
  • Osteoporosis
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Contributor Information and Disclosures
Author

Girish D Sharma, MD  Professor of Pediatrics, Rush Medical College; Senior Attending, Department of Pediatrics, Director, Section of Pediatric Pulmonology and Rush Cystic Fibrosis Center, Rush University Medical Center

Girish D Sharma, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Thoracic Society, and Royal College of Physicians of Ireland

Disclosure: Nothing to disclose.

Specialty Editor Board

Susanna A McColley, MD  Professor of Pediatrics, Northwestern University, The Feinberg School of Medicine; Director of Cystic Fibrosis Center, Head, Division of Pulmonary Medicine, Children's Memorial Medical Center of Chicago

Susanna A McColley, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Sleep Disorders Association, and American Thoracic Society

Disclosure: Genentech Honoraria Speaking and teaching; Genentech Honoraria Consulting; Boston Scientific Consulting fee Consulting; Gilead Honoraria Speaking and teaching; Caremark Consulting fee Consulting; Vertex Pharmaceuticals Honoraria Speaking and teaching

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Charles Callahan, DO  Professor, Deputy Chief of Clinical Services, Walter Reed Army Medical Center

Charles Callahan, DO is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American College of Osteopathic Pediatricians, American Thoracic Society, Association of Military Surgeons of the US, and Christian Medical & Dental Society

Disclosure: Nothing to disclose.

Mary E Cataletto, MD  Director of Children's Sleep Services, Winthrop Sleep Disorders Center; Professor of Clinical Pediatrics, State University of New York at Stony Brook

Mary E Cataletto, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Chest Physicians

Disclosure: Shering Plough Pharmaceuticals Honoraria Consulting

Chief Editor

Michael R Bye, MD  Professor of Clinical Pediatrics, Division of Pulmonary Medicine, Columbia University College of Physicians and Surgeons; Attending Physician, Pediatric Pulmonary Medicine, Morgan Stanley Children's Hospital of New York Presbyterian, Columbia University Medical Center

Michael R Bye, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, and American Thoracic Society

Disclosure: Nothing to disclose.

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Chest radiograph of a patient with advanced cystic fibrosis. Note marked hyperinflation, peribronchial thickening, and bilateral infiltrates with evidence of bronchiectasis especially of the upper lobes.
 
 
 
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