aus- ausdoc . |
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X MONTH . au library at www . ausdoc . com . au / therapy-update
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2022 |
Ivacaftor |
Kalydeco |
Potentiator |
Class III |
G551D mutation on at least one |
allele or another gating ( class III ) |
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mutation on at least one allele |
Tezacaftor / ivacaftor |
Symdeko Potentiator + corrector |
Class II Class IV |
Homozygous for F508del or must have one residual function mutation in the CFTR gene |
Older than 12 years |
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Figure 6 . Allergic bronchopulmonary aspergillosis . The purple arrow indicates a left-sided perihilar opacity and the orange arrows indicate non-homogeneous transient pulmonary infiltrates . |
Elexacaftor / tezacaftor / ivacaftor
* Reviewed May 2023
Trikafta Potentiator + corrector
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Class II Class IV |
At least one F508del mutation |
Older than six years ( from 1 May 2023 ) |
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Other specialists : gastroenterologist , endocrinologist , microbiologist |
Genetic councllor |
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Figure 7 . Middle meatus polyp .
soils , organic decay and indoor environments
. The most common species associated with respiratory disease is A . fumigatus . 38 Spores are inhaled daily but usually with no consequence . In those with CF , inhalation can cause colonisation and lead to allergic bronchopulmonary aspergillosis . 38 This is a T-helper 2-mediated lung disease caused by hypersensitivity to A . hyphae ; the condition carries significant morbidity as it can lead to both bronchiectasis and pulmonary fibrosis . 38 It is clinically characterised by elevated total serum IgE ( greater than 1000 IU / mL ) and pulmonary infiltrates with impaired mucociliary clearance , leading to mucoid impaction , airway obstruction and acute deterioration in pulmonary function . 39 The prevalence of ABPA in CF ranges from 2 % to 15 %. 39 A high index of suspicion is required for early recognition and treatment to prevent worsening lung disease . The mainstay treatment is systemic corticosteroids , with antifungal therapy as an adjunct . 39
Distal intestinal obstruction syndrome
Distal intestinal obstruction syndrome
( DIOS ) is characterised by the accumulation of viscid faecal material within the bowel lumen combined with sticky mucus produced in the intestine of patients with CF . 40 Diagnosis can be difficult ; patients are prone to constipation and obstruction caused by adhesions from previous abdominal surgery . 40 Mild DIOS can be managed with oral laxatives , increased hydration and optimisation of pancreatic enzymes , while severe cases require hospitalisation ; surgical review ; rectal washout , including sodium meglumine diatrizoate enema ( X-ray contrast medium ); polyethylene glycol solutions and / or N-acetylcysteine ; with surgery the last resort . 40 Encourage hydration , adherence to PERT / salt tablets and
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early use of laxatives to prevent this complication .
Mental health
Studies measuring psychological distress
in patients with CF have found higher rates of anxiety and depression , with the prevalence of depression ranging from 8 % to 29 % among children and adolescents and 30-33 % in adults . 41 Carers have also reported elevated depression scores , ranging from 20 % to 35 %. 41 Psychological symptoms in both patients and parents are associated with decreased lung function , lower BMI , worse adherence , poorer quality of life , more frequent hospitalisation and increased cost . 41 A 2016 International Committee on Mental Health in CF consensus statement recommended prevention strategies to develop coping skills , as well as annual screening using age-appropriate screening tools — for example , GAD-7 ( Generalised Anxiety Disorder 7-item ) and PHQ-9 ( Patient Health Questionnaire-9 ). It also recommended early referral for treatment to primary care or mental health services after initial assessment with the CF team and consideration of combined evidence-based psychological interventions and antidepressant pharmacotherapy based on severity . 41
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Transplant
In 2021 , a total of 12 transplants were undertaken for patients with CF in Australia . The most common transplant procedure is bilateral lung transplant . However , in Australia , there has been a decline in bilateral lung transplants over the past few years , which may be down to the use of CFTR modulator therapy . But the effect of COVID-19 , leading to fewer transplants and fewer pulmonary exacerbations , cannot be excluded . 9
THE ROLE OF THE GP
INDIVIDUALS with CF are living
healthier and longer lives , and GPs are
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Respiratory lab scientists
Pharmacist
more likely to encounter older children or adults with the condition in their practice .
Patients with CF share the same health risks as the general population and require prevention of disease through risk modification , including routine immunisations ( especially pneumococcal , annual influenza and COVID-19 vaccines ). They also require contraception , cervical screening tests , mammography , skin checks and colonoscopy ( they are at higher risk of colon cancer than the general public ). 42 With the high burden of CF treatments and regular review with a CF team , standard screening and preventive medicine are often overlooked .
The GP can provide further support and opportunities to have confidential discussions around psychosocial issues — such as body image , bullying , recreational drug and alcohol use , and sexual health and fertility — which may not have been addressed with the CF team and are important to optimise health and wellbeing .
Men with CF report suboptimal condom use , with one-third disclosing their assumption that they do not need to use condoms during adolescence because of known male infertility associated with CF . 43 Begin education and counselling around
Social worker
Patient with CF Figure 8 . Members of the cystic fibrosis multidisciplinary team .
Psychologist
fertility , contraception , safe sexual behaviours and sexual identity in early adolescence . STIs may have serious implications for adolescents and young adults with CF who are receiving immunosuppressive therapy ( for example , HPV and HSV infection ), as well as HIV and hepatitis B and C being contraindications to future transplant . 44
Genital candidiasis is also significant and often distressing for both men and women ; it has been associated with long-term antibiotic use and additional risk factors , such as CFRD , immunosuppression and corticosteroids . 44 Treatment with typical topical or oral antifungal medication is effective , but dose adjustment to CFTR modulators needs to be considered because of interactions with azole therapy . 44
Non-compliance with treatments and difficulties in transitioning from child to adult services can occur . The continuity of care with the GP can provide stability and encourage compliance and disease prevention , enabling patients to maximise their quality of life .
PROGNOSIS
THE prognosis of patients with CF has greatly improved in recent decades . 6 There has been substantial growth in the proportion of adult CF patients
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Physiotherapist
Dietitian
— currently exceeding 50 % in most countries ( 55.8 % in Australia ). 9
Factors that are likely contributing to improved survival include improved management of neonatal complications , such as meconium ileus ; advances in PERT and nutritional support ; improvement in airway clearance ; availability of antibiotics ; CF-specific specialty centres ; and now access to CFTR modulators .
THE FUTURE
SIGNIFICANT progress has been
made in improving the longevity and quality of life of patients with CF since it was first described . The availability of CFTR modulators has increased the rate of these improvements ; however , there is still scope for improvement .
Some of these medications have not been used in young children or infants , who may be the most likely to benefit from them long term . Alternative products are needed in those with mutation classes not corrected by current drugs and in those who cannot tolerate current modulator therapy . Additional pharmacotherapies , precision medicine and gene-correction therapy using CRIS- PR-Cas are being explored . 2
Even though CFTR modulators slow the progression of the disease , they do not obviate the need for other aspects of care in CF . The extent of
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