Cystic Fibrosis as a Chronic Medical ConditionVijay Aswani, MD, PhD, FAAP, FACP

Department of Internal Medicine & PediatricsMarshfield Clinic

April 2017

Details

• Presentation: 45-50 minutes • Questions: 10-15 minutes • Date: April 29, 2017• Location: La Crosse Center Ballroom, La Crosse

Center 300 Harborview Plaza, La Crosse, WI 54601• Time: • Audience: American Association of Medical

Assistants Wisconsin Chapter

Learning Objectives

1. Define and describe a chronic medical condition2. Define and describe Cystic Fibrosis as a chronic

medical condition3. Identify and recognize key clinical features of Cystic

Fibrosis4. Describe team-based medical care as a model for

managing chronic medical conditions5. Describe the role of the medical assistant as a

healthcare provider in delivering care in chronic medical conditions using Cystic Fibrosis as an example

Learning Objectives

1. Define and describe a chronic medical condition2. Define and describe Cystic Fibrosis as a chronic

medical condition3. Identify and recognize key clinical features of Cystic

Fibrosis4. Describe team-based medical care as a model for

managing chronic medical conditions5. Describe the role of the medical assistant as a

healthcare provider in delivering care in chronic medical conditions using Cystic Fibrosis as an example

What is a Chronic Medical Condition?

Case 1: You are in your 1st week as a CMA at Goodhealth Clinic in Goodplace, WI. Your doctor asks you to select patients for a special Chronic Disease Clinic that you both will manage once a month. Which of the following diseases would NOT fall in the category of chronic disease?A. DiabetesB. HypertensionC. PneumoniaD. Cystic fibrosisE. Asthma

What is a Chronic Medical Condition?A health condition is a departure from a state of physical or mental well-being. In the National Health Interview Survey, each condition reported as a cause of an individual’s activity limitation has been classified as chronic, not chronic, or unknown if chronic, based on the nature and duration of the condition. Conditions that are not cured once acquired (such as heart disease, diabetes, and birth defects in the original response categories, and amputee and old age in the ad hoc categories) are considered chronic, whereas conditions related to pregnancy are not considered chronic. Other conditions must have been present for 3 months or longer to be considered chronic. An exception is made for children aged less than 1 year who have had a condition since birth: such conditions are always considered chronic.

US Department of Health and Human Services. Health, United States, 2010

What is a Chronic Medical Condition?

Case 1: You are in your 1st week as a CMA at Goodhealth Clinic in Goodplace, WI. Your doctor asks you to select patients for a special Chronic Disease Clinic that you both will manage once a month. Which of the following diseases would NOT fall in the category of chronic disease?A. DiabetesB. HypertensionC. PneumoniaD. Cystic fibrosisE. Asthma

65 Roses

65 Roses

https://www.cff.org/About-Us/About-the-Cystic-Fibrosis-Foundation/The-65-Roses-Story/

Learning Objectives

1. Define and describe a chronic medical condition2. Define and describe Cystic Fibrosis as a chronic

medical condition3. Identify and recognize key clinical features of Cystic

Fibrosis4. Describe team-based medical care as a model for

managing chronic medical conditions5. Describe the role of the medical assistant as a

healthcare provider in delivering care in chronic medical conditions using Cystic Fibrosis as an example

Cystic Fibrosis as a Chronic Medical Condition

Case 2: You are in your 1st week as a CMA at Goodhealth Clinic in Goodplace, WI. Mrs. Kneedy calls you in a panic. Her 5-year old son, Clue has just started kindergarten. There is a boy in his class, Cedric, with cystic fibrosis. She has some questions for you and Clue’s doctor. Answer YES or NO:A. “Can Clue catch cystic fibrosis from Cedric?”B. “Should I keep Clue out of school till Cedric’s CF gets

better?”C. “Is there a vaccine or cure for cystic fibrosis?”D. “Will Cedric have a normal life span?”

Cystic Fibrosis as a Chronic Medical Condition

• Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.

• It is a genetic disease (you are born with it)• It is lifelong• There is currently no cure• Lifelong care and treatment• It shortens life expectancy

History of CF?

“woe is the child who tastes salty from a kiss on the brow, for he is cursed, and soon must

die”-- European folklore

• In 1938, the American Pathologist Dr. Dorothy Andersen provided the first description of the disorder in the medical literature, calling the disease “cystic fibrosis of the pancreas” based on her autopsy findings of children that died of malnutrition.

• During the heat wave of 1949, Paul di Sant’Agnese was the first to recognize CF babies were at special risk for heat prostration. He thus discovered that sweat was abnormal in CF.[1] This led to the development of the sweat test, which is a major way cystic fibrosis can be diagnosed. He also founded the CFF

2015: Median age at death: 30.1 years; range with the oldest being 87 years old

What Causes Cystic Fibrosis?• Cystic fibrosis is caused by mutations in the gene that produces

the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein is responsible for regulating the flow of salt and fluids in and out of the cells in different parts of the body.

• Mutations in the CF gene cause the CFTR protein to malfunction, leading to a buildup of thick mucus, which in turn leads to persistent lung infections, destruction of the pancreas in most individuals with CF and complications in other organs.

• The CF gene was discovered in 1989 on chromosome pair 7

What’s Up with Sal? Medkidz Explain Cystic Fibrosis, Medikitz Limited 2015

Cystic Fibrosis Mutations

• more than 1,700 mutations in the CF gene. • While some CF mutations are common, others

are rare and found in only a few people.• Carrier rate in Caucasians is 1:30• Incidence of CF in live births is about 1:3200• 90% of carriers are Caucasians or European

Jews• Most common mutation is delta F508 (86.4%)

Diagnosing CF

• Newborn Screening– 59.6% detected by newborn screening– 75% diagnosed by age 2 (failure to thrive, rectal

prolapse, acute or persistent respiratory abnormalities

– In all 50 states, since 2009• Confirmed by a sweat chloride test

Sweat Chloride Test

How is it done?

• The sweat glands are made to produce sweat with a mild chemical called pilocarpine and a little electricity (pilocarpine iontophoresis).

• A gauze pad or piece of filter paper is put on the skin to collect the sweat.

• Then, the area is wrapped in plastic for 30 minutes. • A small plastic strap that looks like a wristwatch also

may be used to collect the sweat. It collects the sweat into a small tube. If the person has CF, the sweat will be high in salt (sodium and chloride).

Learning Objectives

1. Define and describe a chronic medical condition2. Define and describe Cystic Fibrosis as a chronic

medical condition3. Identify and recognize key clinical features of Cystic

Fibrosis4. Describe team-based medical care as a model for

managing chronic medical conditions5. Describe the role of the medical assistant as a

healthcare provider in delivering care in chronic medical conditions using Cystic Fibrosis as an example

Key Clinical Features of CFCase 3: You are in your 1st week as a CMA at Goodhealth Clinic in Goodplace, WI. Your doctor and you are really busy. As you room patients and get a history, which of the following should make you think of CF as a possible diagnosis?

A. Persistent coughing, at times with phlegmB. Frequent lung infections, such as pneumonia or bronchitisC. Wheezing or shortness of breathD. Poor growth or poor weight gain in spite of a good appetiteE. Frequent greasy, bulky stools or difficulty in bowel movementsF. Small, fleshy growths in the nose, called nasal polypsG. Chronic sinus infectionsH. Clubbing or enlargement of the fingertips and toesI. Rectal prolapse (when the rectum sticks out through the anus) J. Male infertility K. All of these

Treating CF• Airway Clearance Therapy (ACT)• Inhaled Medicines– Hypertonic Saline– Albuterol– Dornase or Pulmozyme– Tobramycin or inhaled Aztreonam

• Pancreatic enzyme replacement therapy (PERT)

• CFTR Modulators

What?• Airway clearance to help loosen and get rid of the thick mucus that

can build up in the lungs. Some airway clearance techniques require help from family members, friends or respiratory therapists. Many people with CF use an inflatable vest that vibrates the chest at a high frequency to help loosen and thin mucus.

• Inhaled medicines to open the airways or thin the mucus. These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer. These medicines include antibiotics to fight lung infections and therapies to help keep the airways clear.

• Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. People with CF also usually take multivitamins.

Learning Objectives

1. Define and describe a chronic medical condition2. Define and describe Cystic Fibrosis as a chronic

medical condition3. Identify and recognize key clinical features of Cystic

Fibrosis4. Describe team-based medical care as a model for

managing chronic medical conditions5. Describe the role of the medical assistant as a

healthcare provider in delivering care in chronic medical conditions using Cystic Fibrosis as an example

Team-based Medical CareCase 4: You are in your 3rd week as a CMA at Goodhealth Clinic in Goodplace, WI. Cecil Fredrick, a 25 year old CF patient calls in on a Monday morning to say he is not feeling well. He has not been doing his treatments. He wants to be admitted for a CF exacerbation. Your schedule is full! What do you do?

A. Send him to Urgent Care or the ERB. Give him the first available appointment – Wednesday

next weekC. Give him an antibiotic prescription over the phoneD. Make it happen: get him in and admitted

Learning Objectives

1. Define and describe a chronic medical condition2. Define and describe Cystic Fibrosis as a chronic

medical condition3. Identify and recognize key clinical features of Cystic

Fibrosis4. Describe team-based medical care as a model for

managing chronic medical conditions5. Describe the role of the medical assistant as a

healthcare provider in delivering care in chronic medical conditions using Cystic Fibrosis as an example

Role of the CMACase 5: You are in your 2nd year as a CMA at Goodhealth Clinic in Goodplace, WI. You and your doctor are a team. You take pride in providing the best care to the patients in your practice. Your doctor and you sit down to discuss how you both can improve the CF clinic. You suggest:

A. Have team huddles at a regular intervalsB. Assess where your patients are at with respect to the

goals of care and set goals to improveC. Cultivate relationships with the nurse, pharmacist,

manager and other CMAs in your work area to facilitate care

D. Be part of setting up PDSA cycles to improve careE. All of the above

Summary• Cystic fibrosis (CF) is the most common lethal genetic disease in the United

States. – 1 in 31 Americans carry the defective gene for CF. – There are currently about 30,000 people with CF in the United States and more than

half are over the age of 18. • Caring for individuals with Cystic Fibrosis involves managing pulmonary

exacerbations, nutrition, infections and multiple complex psychosocial issues. • We will discuss

– CF as a chronic medical condition – a disease that patients and their families must live with from birth to death.

– how the diagnosis is made, signs and symptoms of the disease and challenges in management.

– team-based medical care in chronic medical diseases and the key role a medical assistant can play.