Advances achieved over the years has transformed cystic fibrosis (CF) from a childhood disease to a long-term manageable chronic condition with approximately 50% of the Australian CF population living well into adulthood. As people with CF are living longer, they are facing new challenges and issues compared to those they may have faced in their earlier years.
As people with CF get older, their burden of care increases and they may find they are taking more medications and requiring more treatments. This may impact their everyday life; managing CF while coping with work, relationships and family can prove to be additionally demanding. Below, we explore some of the medical issues that ageing can bring and how they can be managed.
Nutrition
The link between poor nutritional status and worsening lung function highlights the importance of eating well for people with CF. This can be a struggle for many despite the intake of a high-fat diet and dietary supplements. During these times, extra nutrition may be recommended for night feeds via a naso-gastric tube or PEG (percutaneous endoscopic gastrostomy).
Cystic Fibrosis-Related Diabetes
With increasing age there is an increase in the incidence of CF-related diabetes (CFRD). CFRD may be triggered by an exacerbation of CF, medication, or it could be a gradual onset. People with CFRD need to continue with the recommended healthy fat, high-energy diet. Insulin is the treatment of choice for people with CFRD.
Gastrointestinal Complications
A number of studies show that as CF patients age, they are at a higher risk of developing benign (non-cancerous) polyps on the mucous membrane of the large intestine and are more likely than other types of large intestinal polyps to become cancerous. This has prompted screening for people with CF to have colonoscopy screening by age forty.
People with CF are also at an increased risk of developing secondary cancers. Some CF centres are now recommending additional screening.
Bone Disease
Porous bones – low bone mineral density (BMD) – is a common complication in adolescent and adult people with CF as their health declines. The most common risk factors include: recurrent respiratory infections, poor nutrition, lack of weight bearing exercise, delayed puberty, steroid treatments, vitamin D, calcium and vitamin K deficiencies. BMD, also known as osteopenia, can lead to osteoporosis where bones become weak and brittle and more prone to fractures.
Risk factors should be minimised, and dietary intake of calcium and vitamin D should be optimised. CF researchers recommend bone densitometry scans (dual-energy x-ray absorptiometry tests – DXA scans) everyone to five years, depending on the results (ECFS best practice guidelines: the 2018 revision).
Respiratory Complications
People with CF may develop a variety of complications as they age. Although they may occur infrequently, they are more common with advancing disease severity.
Pneumothorax
A spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) and can lead to the partial or complete collapse of a lung (Genetics Home Reference 2019). Spontaneous pneumothorax is a complication in people with CF and occurs more frequently with age, in those with more advanced disease as well as in those who test positive for certain infections. Treatment is by the insertion of intercostal tube drainage and pain control. For recurrent pneumothorax some people may require surgical intervention.
Haemoptysis
Haemoptysis is a medical term for coughing up blood and is a common complication in CF. It may range in severity from scant (<5 mL) to massive (>240 mL). Clear guidance should be given from the CF team as to when and who to call if haemoptysis occurs. Those with mild haemoptysis may need treatment with antibiotics. For those with moderate or massive haemoptysis, medications such as tranexamic acid may be given and bronchial artery embolization (BAE) may be performed.
Respiratory Failure
As CF lung disease progresses to the advanced stages of airway obstruction and eventual respiratory failure discussions about lung transplantation and advanced healthcare directives should already be in place.
Sinus Disease
Chronic sinusitis, with or without nasal polyps, is common and can cause significant symptoms for those with CF. Routine evaluation of sinus disease and treatment is recommended as it could be the source of lower airways disease. Treatment of CF-related sinusitis can range from antibiotics, nasal steroids, mechanical clearance with saline or antibiotic flushes, antihistamines and decongestants to surgical intervention. CFTR modulators may also prove significant in improved outcomes for those affected by sino-nasal disease.
Liver and Pancreas Complications
Those with CF who are pancreatic insufficient may have evidence of liver disease ranging in severity from mild to end-stage cirrhosis. CF-related liver disease (CFLD) usually presents before the age of twenty years and can lead to complications such as portal hypertension. CFLD can also lead to liver failure.
Early identification of advancing CFLD allows for potential monitoring and for treatment of complications. Patients with portal hypertension should be referred to a gastroenterologist for screening and management. This may include immunisation for hepatitis A and B, avoidance of NSAIDs and alcohol and monitoring of liver function. Dosing of some CFTR modulator and corrector drugs may need adjustment as these may contribute to liver impairment.
For those with advanced stage liver disease, a pathway for appropriate referral to a liver transplant program should be in place.
Pancreatitis
Pancreatitis is a less common complication but can be troublesome for CF individuals with pancreatic sufficiency. Recurrent pancreatitis can result in the transition to pancreatic insufficiency. Recently developed CFTR modifying drugs may play a role in the treatment of pancreatitis.
Nephrolithiasis
Nephrolithiasis refers to kidney stones and this is common complication in people with CF. Increased fluids to maintain high urine output combined with a low -oxalate and high-calcium diet is appropriate management for these patients. Limiting oxalate-rich foods may help reduce the risk of forming new stones. Foods to avoid which are high in oxalate are nuts, rhubarb, beets, All Bran, buckwheat flour and sesame seeds.
Referral to a specialist nephrologist and/or urologist may be indicated for complicated nephrolithiasis.
Arthropathy
Arthropathy is a term for any disease of the joints. Joint pain in CF is a common symptom in CF, however, arthropathy is poorly understood. Treatment is generally with pain relief medications and anti-inflammatory agents.
Fertility and Pregnancy
98% of men with CF are infertile because the vas deferens does not develop properly or is absent. Sperm analysis should be available for those interested in knowing their status. Access to counselling regarding fertility options is advised. A specialised form of IVF called intracytoplasmic sperm injection (ICS), where sperm is collected and injected into a partner’s egg, is an assisted reproductive technique that may be a suitable option.
In women, puberty may be delayed, however, most girls with CF have normal menstrual cycles. Amenorrhoea – the absence of periods – may occur in women of reproductive age particularly if they have a low BMI and a reduced percentage of body fat. Most women who have CF can fall pregnant without difficulty, however, fertility problems in CF are addressed in the same way as for other women. It is recommended that women with CF who are considering falling pregnant consult with their CF team.
Women with CF are always considered a high-risk pregnancy because of the potential complications and should always be managed by an experienced obstetrician.
Transplantation and End-of-Life Issues
An established therapy for end-stage lung and liver disease in people with CF is transplantation. In some cases, transplant is not a suitable option or does not occur for various reasons. Outcomes for people with CF undergoing lung transplantation have continued to improve with 10-year survival rates approaching 50% (ECFS best practice guidelines 2018 revision).
Barriers to referral for transplant assessment remain and regular and detailed communication with the transplant services is vital.
Psychosocial Support
For people with CF, their family’s life can be emotionally and physically challenging. The ability to deal with everyday life, study, work and unexpected life events are influenced by health decline and the increased burden of care. The need for annual mental health screening and good psychosocial care is well documented. Referral and access to appropriate social work and psychiatric support is recommended.
Any secondary diagnosis can understandably cause anxiety and frustration and patients will require added support and education. Managing another chronic illness or complication adds to the burden of care. Psychological and counselling support is paramount to ensure best outcomes.
If you are concerned about any of the issues raised in this article, please discuss them with you specialist CF team or please feel free to contact Cystic Fibrosis WA to explore community support options that may be available for you on servicesmanger@cfwa.org.au or 08 6457 7333
Article from RED Magazine, Edition 2, 2019.