Cystic_Fibrosis_Management_Flashcards
What are the key management strategies for cystic fibrosis?
Key management strategies include regular chest physiotherapy, high calorie and high fat diet, vitamin and pancreatic enzyme supplements, and minimizing contact with other CF patients.
What is the purpose of regular chest physiotherapy in cystic fibrosis management?
Chest physiotherapy helps to clear mucus from the lungs, which is critical in managing cystic fibrosis.
Why should patients with cystic fibrosis minimize contact with each other?
To prevent cross infection with bacteria like Burkholderia cepacia complex and Pseudomonas aeruginosa, which can lead to serious health complications.
What role do pancreatic enzyme supplements play in the management of cystic fibrosis?
Pancreatic enzyme supplements aid digestion and nutrient absorption by compensating for the pancreas’ reduced function.
How does Lumacaftor/Ivacaftor (Orkambi) work in cystic fibrosis treatment?
Lumacaftor increases the number of CFTR proteins on the cell surface, while Ivacaftor potentiates the CFTR at the surface, enhancing chloride ion passage.
What is a specific contraindication to lung transplantation in cystic fibrosis patients?
Chronic infection with Burkholderia cepacia is a major contraindication to lung transplantation in CF patients.
summarise CF management
Cystic fibrosis: management
Management of cystic fibrosis (CF) involves a multidisciplinary approach
Key points
regular (at least twice daily) chest physiotherapy and postural drainage. Parents are usually taught to do this. Deep breathing exercises are also useful
high calorie diet, including high fat intake*
patients with CF should try to minimise contact with each other to prevent cross infection with Burkholderia cepacia complex and Pseudomonas aeruginosa
vitamin supplementation
pancreatic enzyme supplements taken with meals
lung transplantion
chronic infection with Burkholderia cepacia is an important CF-specific contraindication to lung transplantation
Lumacaftor/Ivacaftor (Orkambi)
is used to treat cystic fibrosis patients who are homozygous for the delta F508 mutation
lumacaftor increases the number of CFTR proteins that are transported to the cell surface
ivacaftor is a potentiator of CFTR that is already at the cell surface, increasing the probability that the defective channel will be open and allow chloride ions to pass through the channel pore
*this is now the standard recommendation - previously high calorie, low-fat diets have been recommended to reduce the amount of steatorrhoea
A 4-year-old child is brought to the paediatric assessment unit by his parents. He has presented multiple times over the past year with chest infections. He is a small child compared with his siblings and has had gastrointestinal issues since birth. On examination, he looks thin and is coughing up green sputum. On auscultation, there are crackles over the lung bases. A sweat test is performed and comes back positive. Genetic testing shows two disease-causing mutations in the delta F508 gene, affecting the CFTR protein. Peripheral blood eosinophil count is normal.
What can be used to treat this condition?
Carbocisteine
Immunoglobulin therapy
Lumacaftor/ivacaftor
Prednisolone/itraconazole
Salbutamol/beclometasone
Lumacaftor/Ivacaftor (Orkambi) can be used to treat cystic fibrosis patients who are homozygous for the delta F508 mutation
Important for meLess important
Lumacaftor/ivacaftor is the correct answer. This patient is presenting with features of cystic fibrosis including failure to thrive, recurrent infections, and a positive sweat test. The genetic testing confirms the diagnosis in this patient. Cystic fibrosis (CF) is a genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A homozygous F508 (two genes affected) mutation is one of the most common mutations that affect the CFTR protein. This leads to the production of thick and sticky mucus that clog the airways and various ducts in the body. CFTR modulators are small molecules that can partially restore function in mutated CFTR. There are two main types of CFTR modulators approved for clinical use: potentiators (ivacaftor) and correctors (lumacaftor), which are used together. Potentiators increase the amount of time that the CFTR channel is open whilst correctors help the CFTR protein form so that it can move to the cell surface. By addressing the underlying CFTR defects, lumacaftor/ivacaftor can help reduce the severity of symptoms and improve lung function. Note that this medication is not effective in all CF mutations, and it’s use should be guided by genetic testing.
Carbocisteine is not correct. Carbocisteine is a medication commonly used as a mucolytic agent to help thin and loosen mucus. It is not licensed by NICE for use in patients with cystic fibrosis. The management of cystic fibrosis has been focused on the development of targeted therapies such as CFTR modulators. These have become the cornerstone of treatment for affected individuals.
Immunoglobulin therapy is not correct. This is a medical treatment that involves the infusion of immunoglobulins (i.e. antibodies) into the patient’s bloodstream. They are used to specifically treat immune deficiencies and autoimmune diseases. Whilst this patient does have some features of a potential immune deficiency such as failure to thrive and recurrent infections, the results of the sweat test and genetic testing confirm cystic fibrosis.
Prednisolone/itraconazole is not correct. The use of an oral corticosteroid and antifungal is classically seen in allergic bronchopulmonary aspergillosis (ABPA). This is a hypersensitivity reaction to bronchial colonisation by aspergillus fumigatus mould. A key risk factor for ABPA is a history of cystic fibrosis. A full blood count to assess peripheral blood eosinophil should be elevated in ABPA which is not seen in this patient making the diagnosis unlikely.
Salbutamol/beclometasone is not correct. These medications are inhaled beta 2 agonists and corticosteroids respectively. They are commonly used in conditions such as asthma to relax and widen the airways. Given this patient has cystic fibrosis, these medications would not be of use here.
A 17-year-old male with a history of cystic fibrosis presents to clinic for annual review. What is the most appropriate advice regarding his diet?
High calorie and low fat with pancreatic enzyme supplementation for every meal
High calorie and low fat with pancreatic enzyme supplementation for evening meal
Normal calorie and low fat with pancreatic enzyme supplementation for every meal
High calorie and high fat with pancreatic enzyme supplementation for evening meal
High calorie and high fat with pancreatic enzyme supplementation for every meal
The correct answer is High calorie and high fat with pancreatic enzyme supplementation for every meal. Patients with cystic fibrosis (CF) have an increased energy requirement due to the chronic inflammation and infection associated with their disease. The UK Cystic Fibrosis Trust’s nutritional guidelines recommend a high-energy, high-fat diet to meet these needs. Additionally, CF patients often suffer from pancreatic insufficiency which leads to malabsorption of nutrients, especially fat. Therefore, they require pancreatic enzyme replacement therapy (PERT) with every meal and snack to aid digestion and absorption of nutrients.
High calorie and low fat with pancreatic enzyme supplementation for every meal is incorrect because it does not provide enough dietary fat. Fat is a concentrated source of calories and essential for growth, development and overall health in CF patients.
High calorie and low fat with pancreatic enzyme supplementation for evening meal is also incorrect as it suggests that PERT should only be taken at dinner time. This would lead to inadequate digestion during breakfast and lunch when the patient also consumes food.
Normal calorie and low fat with pancreatic enzyme supplementation for every meal is not suitable as CF patients have higher than normal caloric requirements due to increased work of breathing, chronic inflammation, recurrent infections, malabsorption issues among other reasons.
Lastly, High calorie and high fat with pancreatic enzyme supplementation for evening meal is incorrect because although it provides the necessary calories and fats required by CF patients, it recommends PERT only at dinner time which will lead to malabsorption during other meals of the day.
