Respiratory: Epiglottitis; Whooping Cough

Question 1

Define what is meant by epiglottitis / what it is caused by [1]

Answer 1

Epiglottitis is inflammation and swelling of the epiglottis caused by infection, typically with haemophilus influenza type B.

The epiglottis can swell to the point of completely obscuring the airway within hours of symptoms developing. Therefore, epiglottitis is a life threatening emergency.

Question 2

Which population group do you need to suspect epiglottitis in? [1]

Answer 2

Epiglottitis is now rare due to the routine vaccination program, which vaccinates all children against haemophilus. You need to be extra cautious and have high suspicion in children that have not had vaccines. It can present in a similar way to croup, but with a more rapid onset. In you exams keep a lookout for an unvaccinated child presenting with a fever, sore throat, difficulty swallowing that is sitting forward and drooling and suspect epiglottitis.

Question 3

Describe the presenting features of epiglottitis [5]

Answer 3

• Patient presenting with a sore throat and stridor
• Drooling
• Tripod position, sat forward with a hand on each knee
• High fever
• Difficulty or painful swallowing
• Muffled voice
• Scared and quiet child
• Septic and unwell appearance

Question 4

Describe the investigations of epiglottitis [2]

Answer 4

If the patient is acutely unwell and epiglottitis is suspected then investigations should not be performed.
- lateral xray of the neck shows a characteristic “thumb sign” or “thumbprint sign” from oedematous and swollen epiglottis.
- Neck xrays are also useful for excluding a foreign body.

Question 5

Describe the management of epiglottitis [+]

Answer 5

A key point that is often talked about with epiglottitis is the importance of not distressing the patient, as this could prompt closure of the airway. If you see a child with suspected epiglottitis, leave them well alone and in their comfort zone
- Alert senior paediatrician and anaesthetist

Management of epiglottis centres around ensuring the airway is secure.
- Most patients do not require intubation
- However there is an ongoing risk of sudden upper airway closure, so preparations need to be made to perform intubation at any time.
- Intubation is often difficult and needs to be performed in a controlled environment with facilities available to do a tracheostomy (intubating through the neck) if the airway completely closes.
- When patients are intubated they are transferred to an intensive care unit.

Additional treatment once the airway is secure:
* IV antibiotics (e.g. ceftriaxone)
* Steroids (i.e. dexamethasone)
* IV fluids

Vaccination:
- Ensuring that children
receive the Haemophilus influenzae type B (Hib) vaccine is crucial for preventing pediatric cases of acute epiglottitis.

Question 6

Describe a complication of epiglottitis [1]

Answer 6

A common complication to be aware of is the development of an epiglottic abscess, which is a collection of pus around the epiglottis. This also threatens the airway, making it a life threatening emergency. Treatment is similar to epiglottitis.

Question 7

Whooping cough is typically caused by which bacteria? [1]

Answer 7

Bordetella pertussis

Question 8

Describe the clinical features of whooping cough [+]

Answer 8

The typical clinical findings include 2-3 days of coryza precede onset of:

coughing bouts
* usually worse at night and after feeding, may be ended by vomiting
* central cyanosis may occasionally be seen
* more severe coughing normally starts after a week or more where get sudden and reoccuring coughing attacks coupled with gaps inbetween (paroxysmal cough)

inspiratory whoop
- not always present

infants may have spells of apnoea

persistent coughing may cause subconjunctival haemorrhages or even anoxia leading to syncope & seizures

Question 9

Describe how you dx whooping cough [2]

Answer 9

A nasopharyngeal or nasal swab with PCR testing or bacterial culture can confirm the diagnosis within 2 to 3 weeks of the onset of symptoms.

Where the cough has been present for more than 2 weeks patients can be tested for the anti-pertussis toxin immunoglobulin G this is tested for in the oral fluid of children aged 5 to 16 and in the blood of those aged over 17.

Question 10

Mx for whooping cough? [3]

Answer 10

Supportive care

Macrolide Abx:
- azithromycin, erythromycin and clarithromycin can be beneficial in the early stages (within the first 21 days) or vulnerable patients.
- Co-trimoxazole is an alternative to macrolides.

Infants under 6 months with suspect pertussis should be admitted

Question 11

What do you give household contacts of whooping cough? [1]

Answer 11

All household and close contacts should receive prophylactic antibiotics irrespective of their vaccination status. This includes azithromycin, clarithromycin or erythromycin depending on age and contraindications.

Question 12

Name 4 complications of whooping cough infection [4]

Answer 12

Complications
* subconjunctival haemorrhage
* pneumonia
* bronchiectasis
* seizures

NB: The symptoms typically resolve within 8 weeks, however they can last several months. It is also known as the “100-day cough” due to the potential long duration of the cough

Question 13

When does routine immunisation of infants for whooping cough occur? [4]

Answer 13

infants are routinely immunised at 2, 3, 4 months and 3-5 years

NB: neither infection nor immunisation results in lifelong protection - hence adolescents and adults may develop whooping cough despite having had their routine immunisations

Question 14

When in a pregnancy are women offered a whooping cough vaccine? [1]

Answer 14

Women who are between 20-32 weeks pregnant will be offered the vaccine.

Question 15

Describe the pathophysiology of CF [+]

Answer 15

Cystic fibrosis (CF) is an autosomal recessive multi-system disease predominantly characterised by respiratory features.:
- It is caused by mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene found on chromosome 7.
- This encodes a chloride channel and abnormalities have wide-ranging effects
- In the lungs CFTR channels are found on the apical surface of epithelial cells.
- Defects in normal ion transport leads to dehydration and depletion of airway surface liquid - which is key to the normal function of cilia
- The resultant mucociliary dysfunction causes reduced mucus clearance, airway obstruction and a predisposition to infection
- Recurrent infection leads to chronic bronchitis, damage to the bronchi and eventual bronchiectasis
- Similar issues are seen in other organs with impaired biliary and pancreatic drainage due to viscous secretions resulting in impaired digestion and malabsorption. - Pancreatic insufficiency is common in patients with CF and patients can suffer with recurrent acute pancreatitis or chronic pancreatitis
- Damage to pancreatic islets may result in CF-related diabetes. Liver impairment is common and ranges from transient derangement of LFTs through to portal hypertension and cirrhosis.

Question 16

TOM TIP: Cystic fibrosis is a common exam topic and is a favourite of examiners for testing your knowledge of genetic inheritance. Remember that cystic fibrosis is autosomal recessive.

A popular scenario is: both parents are healthy, one sibling has cystic fibrosis and a second child does not have the disease, what is the likelihood of the second child being a carrier? We know the child doesn’t have the condition, so the answer is []

Answer 16

TOM TIP: Cystic fibrosis is a common exam topic and is a favourite of examiners for testing your knowledge of genetic inheritance. Remember that cystic fibrosis is autosomal recessive. A popular scenario is: both parents are healthy, one sibling has cystic fibrosis and a second child does not have the disease, what is the likelihood of the second child being a carrier? We know the child doesn’t have the condition, so the answer is two in three.

Question 17

Why are male patients with CF infertiles? [1]

Answer 17

Congenital bilateral absence of the vas deferens in males. Patients generally have healthy sperm, but the sperm have no way of getting from the testes to the ejaculate, resulting in male infertility

Question 18

How do you screen for CF? [1]

Answer 18

Cystic fibrosis is screened for at birth with the newborn bloodspot test.

Question 19

How does CF typically first present? [1]

Answer 19

Meconium ileus is often the first sign of cystic fibrosis. The first stool that a baby passes is called meconium.
- This is usually black and should be passed within 24 hours of birth.
- In about 20% of babies with CF, the meconium is thick and sticky, causing it to get stuck and obstruct the bowel. This is called meconium ileus, and is practically pathognomonic for cystic fibrosis.
- This presents as not passing meconium within 24 hours, abdominal distention and vomiting.

Question 20

Describe the common presentating symptoms of CF [+]

Answer 20

• Chronic cough
• Thick sputum production
• Recurrent respiratory tract infections
• Loose, greasy stools (steatorrhoea) due to a lack of fat digesting lipase enzymes
• Abdominal pain and bloating
• Parents may report the child tastes particularly salty when they kiss them, due to the concentrated salt in the sweat
• Poor weight and height gain (failure to thrive)

Question 21

Describe the common presentating signs of CF [5]

Answer 21

• Low weight or height on growth charts
• Nasal polyps
• Finger clubbing
• Crackles and wheezes on auscultation
• Abdominal distention

Question 22

Describe the pathological manifestations of CF in the respiratory system [4]

Answer 22

Persistent cough:
- Productive or non-productive, often exacerbated by mucus accumulation and infections.

Wheezing and dyspnea:
- Resulting from airway obstruction and bronchospasm.

Recurrent respiratory infections:
- Commonly caused by pathogens such as
Staphylococcus aureus, Haemophilus influenzae, and Pseudomonas aeruginosa.

Nasal polyps and chronic sinusitis:
- Due to mucus buildup and chronic inflammation in the sinuses.

Question 23

Describe the pathological manifestations of CF in the GI system [5]

Answer 23

• Meconium ileus: Neonates with CF may present with intestinal obstruction due to thickened meconium.
• Pancreatic insufficiency: Steatorrhea, weight loss, and malabsorption of fat-soluble vitamins due to pancreatic duct obstruction.
• Distal intestinal obstruction syndrome (DIOS): Partial or complete intestinal obstruction due to inspissated faecal material.
• Biliary cirrhosis: Impaired bile flow leading to liver damage, portal hypertension, and potential liver failure.
• Gastroesophageal reflux disease (GERD): Increased prevalence in CF patients may exacerbate pulmonary complications.

Question 24

Describe the pathological manifestations of CF in the endocrine [2] and reproductive systems [2]

Answer 24

Endocrine manifestations:
* Cystic fibrosis-related diabetes (CFRD): Insulin deficiency and impaired glucose tolerance caused by progressive pancreatic damage.
* Growth failure: Delayed growth and pubertal development due to malabsorption, chronic inflammation, and increased energy expenditure.

Reproductive manifestations:
* Male infertility: Congenital bilateral absence of the vas deferens (CBAVD) results in obstructive azoospermia and infertility.
* Female fertility: Thick cervical mucus, irregular menstrual cycles, and decreased fertility may necessitate assisted reproductive technologies.

Question 25

TOM TIP: The key colonisers to remember for your exams are [2]. Patients with cystic fibrosis take long term prophylactic [] to prevent [1] infection.

Answer 25

TOM TIP: The key colonisers to remember for your exams are staph aureus and pseudomonas. Patients with cystic fibrosis take long term prophylactic flucloxacillin to prevent staph aureus infection.

Pseudomonas should be remembered as a particularly troublesome coloniser that is hard to treat and worsens the prognosis of patients with cystic fibrosis.

Question 26

Why is pseudomonas infection particularly clinically significant in patients with CF? [1]

Answer 26

Once patients become colonised with pseudomonas, it can be very difficult to get rid of. Often, these bacteria can become resistant to multiple antibiotics
- Colonisation with pseudomonas leads to a significant increase in morbidity and mortality in patients with CF.

Question 27

How can you treat long term pseudomonas infection? [2]

Answer 27

Pseudomonas colonisation can be treated with long term nebulised antibiotics such as tobramycin.

Oral ciprofloxacin is also used.

Question 28

Describe the investigations used for CF

Answer 28

Newborn screening:
- Most cases of cystic fibrosis (CF) are identified through newborn screening programs, which typically involve measuring immunoreactive trypsinogen (IRT) in blood samples.
- An elevated IRT level warrants further testing, such as sweat chloride testing or genetic analysis
.
Sweat chloride test:
- The** gold standard diagnostic test for CF**, this measures the concentration of chloride in sweat
- Elevated chloride levels (>60 mmol/L) are diagnostic of CF, while intermediate levels (30-59 mmol/L) require further investigation.

Genetic testing:
- Identifying mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene can confirm the diagnosis, provide prognostic information, and guide treatment decisions. However, not all CFTR mutations are detectable through current testing methods.

Question 29

Cystic fibrosis can be diagnosed based on the three following situations according to 2017 NICE guidelines [NG78]: [3]

Answer 29

• A child or young adult with no symptoms but with a positive test results, for example blood spot immunoreactive trypsin test (infant screening) followed by sweat chloride and gene test for the confirmation of the result.
• A child or young adult with clinical features of cystic fibrosis, confirmed by sweat chloride or gene test results.
• A child or young adult with solely clinical features of cystic fibrosis, in the rare case where sweat chloride or gene test results are normal.

Question 30

Describe the management of CF [+]

Answer 30

Airway clearance:
- Chest physiotherapy: active cycle of breathing, autogenic drainage, and positive expiratory pressure device
- High-frequency chest wall oscillation: rapid oscillations to loosen and clear mucus from the airways.
- Exercise: Regular physical activity promotes airway clearance, enhances lung function, and improves overall health.

Pharmacologic interventions:
- Mucolytics: Agents like dornase alfa and hypertonic saline reduce mucus viscosity, improving airway clearance and lung function.
- Bronchodilators: Inhaled β2-agonists and anticholinergics help relax airway smooth muscle, improving airflow and lung function.
- Anti-inflammatories: inhaled corticosteroids and oral nonsteroidal anti-inflammatory drugs (e.g., ibuprofen) help reduce airway inflammation and improve lung function.
- Antibiotics: Regular use of inhaled antibiotics (e.g., tobramycin, aztreonam) helps manage chronic infections, particularly with Pseudomonas aeruginosa. Systemic antibiotics may be required for acute exacerbations. Prophylactic flucloxacillin tablets to reduce the risk of bacterial infections (particularly staph aureus)
- CFTR modulators: Small molecule drugs like ivacaftor, lumacaftor, and elexacaftor target specific CFTR mutations, improving protein function and clinical outcomes. Selection depends on the patient’s specific CFTR genotype.

Question 31

Which vaccinations are offered to CF patients? [3]

Answer 31

Vaccinations:
- pneumococcal, influenza and varicella

Question 32

Describe the nutritional management for patients with CF [3]

Answer 32

Pancreatic enzyme replacement therapy (PERT):
- Oral administration of pancreatic enzymes with meals assists digestion and absorption of nutrients.

Fat-soluble vitamin supplementation:
- Ensuring adequate intake of vitamins A, D, E, and K helps prevent deficiencies due to malabsorption.

High-energy diet:
- A high-calorie, high-fat diet addresses increased energy requirements and compensates for malabsorption, promoting growth and weight maintenance.

Question 33

Patients with CF need monitoring for which conditions? [5]

Answer 33

Patients with cystic fibrosis are managed and followed up in specialist clinics, typically every 6 months. They require regular monitoring of their sputum for colonisation of bacteria like pseudomonas.

They also need monitoring and screening for diabetes, osteoporosis, vitamin D deficiency and liver failure.

Question 34

Describe the respiratory complications of CF [4]

Answer 34

Pulmonary complications:
Bronchiectasis: Chronic inflammation and recurrent infections cause airway damage and permanent dilation of bronchi, leading to impaired mucus clearance, further infections, and progressive loss of lung function.

Pneumothorax: The destruction of lung tissue increases the risk of spontaneous pneumothorax, which may require chest tube insertion or surgical intervention.
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Haemoptysis: Bronchial wall erosion due to inflammation and infection can result in coughing up blood, which may necessitate bronchial artery embolization or surgical intervention in severe cases.

Respiratory failure: Progressive lung damage may lead to respiratory failure, requiring supplemental oxygen or lung transplantation.

Question 35

Answer 35

subfertility/infertility

Question 36

Answer 36

Meconium ileus

Question 37

Answer 37

rectal prolapse (due to bulky stools)

Question 38

Answer 38

Nasal polyps