What is cystic fibrosis? Can it be cured? How is it diagnosed? Manuela Cernadas, M.D., Pulmonologist at the Lung Center at Brigham and Women’s Hospital and Assistant Professor of Medicine at Harvard Medical School, answers people’s most commonly searched questions about cystic fibrosis (CF).
Hi my name is dr manuela cernatas i am a pulmonologist at the lung center at brigham and women’s hospital and an assistant professor of medicine at harvard medical school and these are mass general brigham’s answers to the most commonly searched questions about cystic fibrosis what is cystic fibrosis cystic fibrosis is an inherited disorder it is caused by genetic
Mutations in the cystic fibrosis transmembrane conductance regulator protein otherwise known as cftr this protein regulates the movement of chloride and other molecules in cells in the body including the lungs gastrointestinal tract as well as other organs it is a recessive disorder this means you have to inherit a gene with a mutation from both your parents
In many patients cystic fibrosis leads to progressive lung disease can cystic fibrosis be cured cystic fibrosis is not currently curable however this is an extremely exciting time in the care patients with cystic fibrosis this is due to several decades of advancements in the care of cystic fibrosis as well as the development of a new drug class for treatment of
Patients with cystic fibrosis this is a disease that used to be associated with early childhood mortality and now we’re on the cusp of turning it into a chronic manageable condition for many patients with cystic fibrosis if you were born between 2015 and 2019 your life expectancy is 46 years however that is likely to significantly increase and this is due to
The transformative medications that are now available for patients with cystic fibrosis how is cystic fibrosis diagnosed cystic fibrosis is usually diagnosed after a comprehensive clinical assessment as well as sweat chloride testing and genetic testing in the united states we have newborn screening and that is testing that is done when children are born some
Children are suspected of having cystic fibrosis based on newborn screening however in other cases the child might have cough sinus problems or gastrointestinal issues that cause their clinician to suspect the diagnosis cystic fibrosis i do want to emphasize that a positive newborn screen is not a diagnosis of cystic fibrosis it is very important to be referred
To acf center so your child can be fully evaluated in fact there are a percentage of patients that actually get diagnosed at adulthood people with cystic fibrosis who presented adulthood tend to have milder disease and milder mutations and often there is a delay in diagnosis because many of the manifestations of cystic fibrosis such as cough shortness of breath
Can be associated with other diseases can i carry cystic fibrosis without realizing it cystic fibrosis is a recessive disorder which means that you have to inherit one gene that has a mutation from both your parents however you can be a carrier of the cystic fibrosis gene which means that you have one normal copy but one of your parents gave you a cftr gene that
Has a mutation in fact the majority of patients who are carriers of cystic fibrosis and only have one copy are completely healthy that does mean that however that you could pass this on to your offspring if your partner also was a carrier of a genetic mutation in the cftr protein what are the effects of cystic fibrosis there are several organ systems that are
Most commonly associated with effects from cystic fibrosis this includes primarily the lungs as well as the gastrointestinal tract sinuses and in males the reproductive tract the largest impact of cystic fibrosis typically is on the lungs this is due to the fact that patients with cystic fibrosis have very thick mucus that is difficult for patients to expel and
Also helps promote the growth of bacteria in their lungs it is this cycle of chronic infection and inflammation that leads to the destruction of the lungs and progressive lung disease and cystic fibrosis what is the treatment for cystic fibrosis cystic fibrosis is a disease with a very broad phenotype there are patients who have very mild disease and have very
Infrequent episodes of illness and there are other people who have progressive disease with a very high burden of both treatments as well as frequency of illness the most important aspect of most patients with cystic fibrosis is their lung health patients with cystic fibrosis have thick mucus that they have a hard time coughing up and there are therapies that
Are designed to help loosen the mucus to help them make it easier for them to bring it up these include medications to help thin the mucous some patients are on inhaled antibiotics to help minimize the amount of bacteria that resides in their lungs and some patients take anti-inflammatory therapies most patients with cystic fibrosis do use modalities to help
Them clear the mucus from their lungs given there is such a broad spectrum of disease also with some of these new exciting therapies it’s very important that patients with cystic fibrosis work specifically with their cystic fibrosis team and this is usually a team that consists of physicians physical therapists social workers nutritionists and other specialists
That are there to help you get the optimal treatment for your disease and to take advantage of some of these newer therapies that can have a significant impact on quality of life how do the vests work airway clearance vests are used by many patients cystic fibrosis to help them expectorate or clear the infected sputum from their lungs these look like little
Life jackets that you wear and they’re either freestanding or they’re attached to a compressor that provides this percussive energy to help loosen up the phlegm so that patients can expectorate it it’s important to remember there are over 2000 gene mutations that have been identified in the cftr protein it is important if you get a diagnosis of being a genetic
Carrier of a mutation in the cftr protein that you work with a genetic counselor to identify whether or not your partner has a cftr mutation as well it is not possible to have a child with cystic fibrosis unless you inherit proteins from both parents that have mutations or dysfunction is lung transplantation a possibility for patients with advanced lung disease
Lung transplantation is an option in the case of cystic fibrosis patients who undergo lung transplantation have their disease lungs replaced by healthy lungs from a donor it is important to work with your cf team to identify if you are reaching the point where you should be referred for lung transplantation we do emphasize the importance of timely referral to a
Lung transplant center so that you can have the appropriate work up and have this potentially life-saving option available to you that has been associated with increased life expectancy and quality of life for many of our patients i just want to emphasize that this is really an extraordinary time in the care and management of patients with cystic fibrosis the
Advent of these new therapies is going to transform the health and hopefully the longevity of patients with cystic fibrosis this is really an extraordinary community a very supportive community that has really been the impetus for the development of these therapies and there are many resources both internationally nationally and locally to help support our
Patients and to offer them the resources they need to live their healthiest lives we also have a very robust research community and hopefully this is really just the start of an exciting era in the care and management of patients with cf thank you for joining us today my name is dr manuela cernatas at mass general brigham and we are here for you you
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Cystic Fibrosis (CF): Symptoms, Inheritance, Treatment, and More | Mass General Brigham By Mass General Brigham
