Complications
Pancreatic enzyme replacement therapy (PERT) can prevent constipation in CF.[121] However, at least 10% of patients experience partial or complete obstruction of the terminal ileum with inspissated stool and mucus (i.e., DIOS). Rarely, DIOS occurs in the presence of a normal stooling pattern.
Treatment is crucial because partial obstruction may progress to complete small bowel obstruction. Available treatments include oral or nasogastric agents to promote stooling, water-soluble contrast enema with visualization of the terminal ileum, or both.
Patients, most often school-age children and adolescents, are at increased risk for intussusception. Usually it is ileocolic, but it may be ileoileal or other. Treatment may be by air enema or may require surgical intervention.
Common in patients with lung disease once they have progressed to severely advanced lung disease. Hypercapnia may be stable for many years, and patients should continue to receive their usual care, and care for intermittent exacerbations. Eventually, supplemental oxygen or noninvasive positive pressure ventilation may become necessary.
Sleep disturbance is common among patients with CF.[154][155] Adults and children both experience disordered sleep architecture and are at risk of obstructive sleep apnea, irrespective of lung function.[156] Take care to monitor and investigate reports of sleep-disordered breathing in all patients with CF.
Sleep disturbance is common among patients with CF.[154][155] Adults and children both experience disordered sleep architecture and are at risk of obstructive sleep apnea, irrespective of lung function.[156] Take care to monitor and investigate reports of sleep-disordered breathing in all patients with CF.
Puberty is frequently delayed in both males and females.
Patients, particularly those with advanced lung disease, may experience acute respiratory failure with hypoxemia and hypercapnia during a pulmonary exacerbation. Treatment should include both supportive and underlying cause therapy.
Up to 70% of patients with chronic hypercapnia and hypoxemia will experience right ventricle hypertrophy due to cor pulmonale.
Patients with CF undergo therapy with many ototoxic medications, including aminoglycosides, glycopeptides, macrolides, and nonsteroidal anti‐inflammatory drugs.[158] Intravenous aminoglycosides are commonly used to treat lung infections. Aminoglycoside levels should be monitored while the patient is on therapy. Hearing screens should be performed before and at least annually for all CF patients receiving this treatment.
Nephrotoxic antibiotics such as aminoglycosides and vancomycin are commonly used to treat lung infections. Levels of nephrotoxic antibiotics should be monitored while the patient is on therapy. Serum creatinine levels should be checked weekly in patients receiving aminoglycosides, and antibiotic doses should be adjusted accordingly.
CF-related diabetes mellitus (DM) shares features of both type 1 and type 2 DM. Its prevalence in CF increases markedly with age, rising to almost 40% in those over 30 years. Risk factors include severe genotype (F508del homozygous), pancreatic insufficiency, and female sex.[3] Patients may be malnourished, with a thin body habitus. Ketoacidosis is rarely seen in these patients, presumably because enough insulin is present to suppress ketone formation. Patients may experience microvascular complications such as retinopathy, nephropathy, and neuropathy. Macrovascular complications, such as cardiovascular disease, have not been observed. Glucose intolerance is observed in many patients, but is more prevalent among older CF populations.
Screening is typically with the 2-hour 75 g (1.75 g/kg) oral glucose tolerance test and should not rely on HbA1C, with annual screening recommended from age 10 years.[159][160] Treatment consists of insulin and/or oral hypoglycemic medications, which may include insulin pumps and continuous glucose monitoring. Given the treatment burden experienced by people with CF, oral tablets may be a viable treatment option.[161] Continuous glucose monitoring is increasingly used for the screening and monitoring of CF-related diabetes mellitus (measures interstitial rather than capillary blood glucose), and correlates well with the oral glucose tolerance test in CF.[160][162] Patients with CF-related diabetes mellitus will continue to follow a high-caloric diet with increased fat intake, but with restrictions on glucose levels.
Nutritional status in these patients is extremely important and should be monitored from early infancy. Poor nutritional status is associated with decreased lung function. Early interventions, such as change in diet to more calorie-dense foods, have shown to be vital in maintaining overall good health. If diet alone fails to maintain appropriate growth, dietary supplements can be given either orally or by a gastric tube. Many patients with poor growth will have feeds either at night or during the day via a gastric tube.[171]
In the CF population, bone disease is equally common in men and women. Bone disease is common in CF adults and may arise from malnutrition, hypogonadism, delayed puberty, decreased physical activity, corticosteroid use, and chronic inflammation.
Oral and intravenous bisphosphonates may increase bone mineral density in people with CF, but it is not clear whether treatment reduces fractures.[170]
Observational research indicates that stones form in 4.6% of the CF population (mean age of diagnosis, 25.1 +/- 9.6 years) and that approximately one-third require surgical intervention (37.8%).[178]
Anxiety and depression are common in children and adults with CF, as are caregiver burden and mental health issues.[179][180][181] Although the prevalence of anxiety and depression varies by age, one meta-analysis reported pooled values among patients of 28.4% and 32.8%, respectively; the corresponding values among caregivers were 38.4% and 32.8%.[182]
In patients, depression contributes to decreased lung function, adherence, body mass index, and quality of life, together with an increased number of hospital admissions.
Screening should begin in childhood. Therapy should be initiated for patients and their family when appropriate.[179] No research has identified the optimal screening tool.[179][180][182]
Anxiety and depression are common in children and adults with CF, as are caregiver burden and mental health issues.[179][180][181] Although the prevalence of anxiety and depression varies by age, one meta-analysis reported pooled values among patients of 28.4% and 32.8%, respectively; the corresponding values among caregivers were 38.4% and 32.8%.[182]
In patients, anxiety contributes to decreased lung function, adherence, body mass index, and quality of life, together with an increased number of hospital admissions.
Screening should begin in childhood. Therapy should be initiated for patients and their family when appropriate.[179] No research has identified the optimal screening tool.[179][180][182]
Occurs most often in patients >12 years of age.[157] Manifests as pain and swelling of the distal end of affected bones, usually the long bones of the arms and legs, but other bones may be affected.
Therapy for hepatobiliary disease is limited to oral bile acids (e.g., ursodiol).[126][163] Pulmonary complications remain the most common cause of death in patients with CF-related liver disease.
Complications from CF-related liver disease include portal hypertension, esophageal varices, gastrointestinal bleed, ascites, hepatic encephalopathy, spontaneous bacterial peritonitis, and cirrhosis. For patients with decompensated cirrhosis, close collaboration with a liver transplant center is beneficial.
Gastrointestinal cancers including small bowel, colon, biliary tract, and pancreatic cancers are significantly more common in patients with CF than in the general population.[183] The risk of colorectal cancer in adults with CF is 5-10 times greater than that of the general population, and 25-30 times greater for those patients with CF who have had an organ transplantation.[184] Clinical guidelines recommend that patients with CF should have colonoscopy screening for colorectal cancer from the age of 40 onwards and that screening should start earlier for transplant recipients.[184]
Virtually all patients with CF have sinuses that are completely opacified on x-ray or MRI.[172] Symptomatic rhinosinusitis with nasal discharge, headache, and eye pain is less common.
Intranasal isotonic or hypertonic saline is often used to manage symptoms, but nasal corticosteroid sprays are probably unsuitable for simple chronic rhinosinusitis.[158][173] Topical intranasal dornase alfa has been shown to improve symptoms more effectively than saline alone, which may improve quality of life.[174] There is evidence that lumacaftor/ivacaftor therapy improves findings on sinus MRI.[172]
Children with CF are at high risk of failure to thrive because of their increased caloric demands. This risk can be reduced with appropriate care and monitoring.
Usually occurs in the first 3 years of life and almost always in patients who have not been diagnosed and treated for CF.
Children and adults with CF are at risk of constipation because of the increased bulk of CF stools, particularly in pancreatic-insufficient patients who are not on enzyme replacement therapy. One systematic review reported the prevalence of constipation as between 10% and 57%.[175] Constipation in CF should be treated because of the risk of progression to distal intestinal obstruction.
Patients with CF, particularly those with a pulmonary exacerbation, may experience hemoptysis in a spectrum from blood-streaked sputum to coughing up of bright-red blood. Minor or scant hemoptysis should be carefully monitored and is usually treated by addressing the underlying trigger, such as intercurrent pulmonary exacerbation. Massive, life-threatening hemoptysis may require bronchial artery embolization.[177]
Overall the incidence of metabolic alkalosis is fairly low because of early detection of CF. However, patients with CF are at high risk of metabolic alkalosis compared with non-CF patients.
Increased electrolyte loss in sweat may result in chronic metabolic alkalosis. Acutely, this may be brought to attention by intercurrent gastrointestinal electrolyte losses or heat stress.
Transient arthritis of the knee is most common, although other joints and polyarticular patterns can be seen.
ABPA is a hypersensitivity reaction to Aspergillus fumigatus colonization of the lung, characterized by elevated IgE (>1000 IU per mL), Aspergillus-specific IgG, hyperattenuating mucus on CT, wheezing, and infiltrates on chest x-ray (often centrally located).[164] Skin prick tests with recombinant IgE appear to have high sensitivity and specificity. In children under 5 years of age with CF, completing Pseudomonas aeruginosa eradication therapy and previous Aspergillus events are associated with an increased risk of acquiring Aspergillus.[165] Treatment typically includes systemic corticosteroids, tapered over a course of 2-3 months, antifungals, or both.[166][167]
CF-related bone disease is evaluated by monitoring vitamin D levels, serum calcium, serum phosphorus levels, and bone densitometry (e.g., by dual-energy x-ray absorptiometry scan).[169] Treatment includes vitamin D and calcium supplementation, and exercise. Using bisphosphonates and calcitriol to treat bone disease in these patients shows promise.[170]
Acute pancreatitis is the inflammation and/or infection of the pancreas, which occurs in about 20% of pancreatic-sufficient CF patients.[176] It is thought to arise from the accumulation of pancreatic secretions due to ductal obstructions and the autodigestion of the pancreas by pancreatic enzymes.
Patients may rarely present with recurrent pancreatitis.[176] The presence of a CFTR selective bicarbonate conductance defect (except p.R75Q) increases the risk of chronic pancreatitis two- to fourfold.[30]
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