Cystic Fibrosis

Question 1

What type of condition is CF?

Answer 1

Recessive inherited (1 in 4 chance of child having CF if both parents are carriers)

Question 2

What is CF caused by?

Answer 2

It is caused by a faulty protein in the CFTR gene with over 2,000 different mutations the most common being delF508

Question 3

What are the symptoms of CF?

Answer 3

• Lungs and digestive system to become clogged with mucus
• Airways clogged with mucus making it hard to breathe
• Chest infections = lung damage
• Persistent cough
• Difficult to digest food
• Stomach cramps
• CF related diabetes

Question 4

What are the dangers of cross infection between CF patients? What does this result in?

Answer 4

People with CF cannot mix due to the risk of cross infection (CF community and peer support via social media, very isolating)

Bugs in the lungs can be transmissible between patients and dangerous

Question 5

What is the annual review of patients with CF?

Answer 5

Ultrasound, Dexa bone scan (bone density), blood tests

Question 6

What is the diet of a patient with CF?

Answer 6

High fat & high calorie diet - between 3,000 to 4,000 kcal on average per day

Question 7

What are the management improvement in treatments?

Answer 7

Ivs in the home
Smart care app
Smaller portable equipment
CF modulators

Question 8

What are the social effects of CF?

Answer 8

• Unpredictability can be disruptive, but not impossible
• Extra time off
• Management of treatments
• Lots of planning ahead & preparation
• Pacing yourself
• Invisible illness (pros and cons)

Question 9

How does CF affect the pancreas?

Answer 9

Pancreatic insufficiency in 90% (mutation dependent)

• Reduced HCO3- and pancreatic fluid secretion
• Blockage of ducts with mucus

Have to take pancreatic enzymes

Question 10

Why do people with CF have to eat high fat/calorie diet?

Answer 10

• Helps fight off infections
• More energy
• Helps gain/retain weight
• Malabsorption of essential vitamins & fats
• BMI target range higher than average person (higher BMI = healthier as weightless is bad sign)
• Strong correlation between weight and lung function
• CF related diabetes can impact on weight and blood sugars

Question 11

What is Pancrex V forte?

Answer 11

Powdered enzyme

Question 12

How is weight managed?

Answer 12

Hospital or Home Intravenous treatment
 Nasal Gastro feed or PEG
 Supplement drinks provided
Review diabetes and other issues 
CF Centres all have a specialist dietician

Question 13

What is PEG?

Answer 13

Percutaneous Endoscopic Gastrostomy

• Instant liquid feed
• Help patients stabilise or re-gain weight
• Nutritional support over a long period
• Via feeding tube fitted directly into the stomach

Question 14

What is an alternate option to PEG?

Answer 14

• Nasal tube – non surgical option temporary

- Long term supplement drinks

Question 15

How can CF lead to diabetes?

Answer 15

Affects around 50% of adults with CF. Develops with older age.

• Combo and elements of type 1 and 2
• Managed with insulin (rather than diet)
• Strongly linked to exacerbations
• Can be problematic with certain treatments (e.g. steroids)
• Another long-term condition to manage can be challenging

Due to pancreas destruction

Question 16

What are other related complications of CF?

Answer 16

CF-related diabetes
 Osteoporosis
 Liver disease
 Kidney disease
 CF-related inflammatory arthritis 
 Asthma
 Sinus issues - polyps
 Infertility in males
 Bowel cancers

Question 17

What are CFTR modulators (precision medicines)?

Answer 17

Targets underlying caused by faulty CFTR gene

Question 18

What CFTR modulators are currently available on NHS?

Answer 18

1. Kalydeco – 7% over 2s with stop or gating mutations
2. Orkambi – 50% of under 12s with homozygous delf508
3. Symkevi - 55% of over 12s with homozygous delf508 plus residual mutations

Question 19

When is transplant considered?

Answer 19

At end stage lung disease (not a cure but can extend life by around 5 years)