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Respiratory SCE > Cystic Fibrosis and Bronchiectasis > Flashcards

Cystic Fibrosis and Bronchiectasis Flashcards

1
Q

What is the approximate median life expectancy for homozygous F508-del cystic fibrosis?

A

UK median survival of 46 years for males and 41 years for females in homozygous F508-del cystic fibrosis sufferers

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2
Q

In adults who should we consider investigating for CF?

A
  • Persistent isolation of Staph Aureus in sputum
  • Feature of malabsorption
  • Male primary infertility
  • Upper lobe bronchiectasis (not lower lobe)
  • History of childhood steatorrhoea
  • Screening investigations should include two measurements of sweat chloride and CFTR genetic mutation analysis
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3
Q

How is CF diagnosed ?

A

Blood spot (babies) ; immunoreactive trypsin test

OR

Clinical manifestation supported by sweat or gene test

OR

Clinical manifestation alone in rare case of people with symptoms who have normal sweat or gene test

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4
Q

What are the complications of CF?

A

Being underweight
Meconium Ileus (affects between 1 in 7 new babies)
Fat soluble vitamin deficiencies (ADEK)
DIOS
Muscle pain and arthralgia
Male infertility (almost all males with CF are infertile)
Reduced female fertility
Upper airway complications
Chronic liver disease
Urinary stress incontinence
CF related diabetes
Reduced bone mineral density

(Less common - CF related arthritis , delayed puberty and renal calculi)

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5
Q

What are the mucoactive agents used in CF?

A

Dornase Alpha - first choice, if inadequate response with dornase alone can add in Hypertonic saline

If unable to use can think about mannitol

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6
Q

Outline Staph Aureus infection in CF

A

Give Flucloxacillin as prophylaxis from diagnosis to 3 years and consider upto 6

If test positive start treatment dose anti S.Aureus abx

NB this is MSSA ; if MRSA will need micro advice (don’t routinely use abx to suppress chronic MRSA in those with chronic pulmonary disease)

MRSA assoc with accelerated lung function decline and increase mortality

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7
Q

Outline approach to Pseudomonas Aeruginosa in CF patients

A

If clinically well: Oral or IV plus inhaled anti-pseud abx ; followed by extended oral + inhaled

If clinically unwell: IV plus inhaled anti pseud, followed by oral and inhaled

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8
Q

If CF pt on colistin nebs but still deteriorating due to Pseud , what can be trialled ?

A

Aztreonam
Nebulised Tobramycin
Tobramycin DPI

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9
Q

Outline DIOS

A

Distal Intestinal Obstruction Syndrome - 10% risk for CF patients , once had , more likely to recur (50%)

Suspect in those with CF who have acute onset of peri umbilical or RLQ abdo pain and :

  • palpable mass in the RLQ
  • faecal loading in the RLQ on plain x ray
  • clinical fx of partial or complete intestinal obstruction such as vomiting

Ix: US or CT

Tx: IVF ; gastrograffin as first line treatment , if not effective can consider PEG solution orally ** surgery is last resort

To try to avoid DIOS optimise pancreatic enzyme replacement and regular Tx with stool softener

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10
Q

What should make you think of CF diabetes ?

A

Increased weight loss, reduced lung function, increased frequency of exacerbations, excess tiredness

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11
Q

What is Kaftrio?

A

Triple combination drug for CF

Contains:
- Ivacaftor
- Tezacaftor
- Elexacaftor
(ITE)

Need to be:
- Age over 3
- 2 copies of the F508 del mutation or one copy of the F508 del and any other mutation

(Approx 90% have mutation)

In trials , increase in FEV1

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12
Q

What is Symkevi?

A

Ivacaftor and Tezacaftor

(IT)

Need to be:
- Aged over 2
- Two copies of F508 del mutation
- One copy of F508 del and another residual function mutation

(Approx 55% CF population)

Increase in FEV1

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13
Q

What is Orkambi?

A
  • Ivacaftor and Lumacaftor
    (IL)
  • two copies of F508 del mutation
  • slows decline in lung function

(Approx 50% have mutation)

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14
Q

What is Kalydeco?

A

Ivacaftor

Effective in anyone with one of nine gating mutations
(Improvement in lung function and reduction in sweat chloride levels)

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15
Q

Outline the genetics for CF

A

Autosomal Recessive condition - need 2 copies of the disease causing mutation

CFTR gene located on long arm of chromosome 7

90% of patients have ≥ 1 copy of F508del ; 48% are homozygous for F508 del

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16
Q

What is the carrier rate for CF in UK?

A

1 in 25

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17
Q

What is the live birth rate of CF in UK?

A

1 in 2500

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18
Q

How do you interpret sweat test results ?

A

<30 NORMAL
30-60 INTERMEDIATE
> 60 ABNORMAL

NB can have CF and have a normal sweat test but this is less than 1%

If intermediate result can do nasal potential difference

Genetic panel CF50 is first line

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19
Q

What is the dominant pathogen for CF patients in childhood ?

A

Staph Aureus

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20
Q

What is the dominant pathogen for CF patients in teens/adulthood ?

A

Pseudomonas

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21
Q

What is the Leeds Criteria ?

A

Chronic Pseudomonas Aeurginosa infection as >50% samples +ve in last 12 months

22
Q

What are the issues with P.Aeurginosa colonisation in CF?

A

Associated with accelerated decline in lung function and increased frequency of exacerbation and incr frequency of exacerbation is a predictor of mortality (≥2 per year associated with reduced survival)

23
Q

How do we eradicate P.Aeruginosa in CF?

A

3/52 - 3/12 or Cipro plus nebulised colomycin

Or
Nebulised Tobramycin for 1/12
Nebulised Aztreonam for 1/12
IV abx if unwell

NB all eradication regimens include nebulisation as you achieve higher concentration in the airway than with systemic abx

24
Q

Do we treat chronic Pseud colonisation in CF?

A

YES! Unlike non-CF bronchiectasis where treat depending on exacerbation frequency in CF we treat them

Nebulused Colomycin or alternatively Nebulised Tobra alternate month or aztreinam alternate month

25
Q

Outline Burkholda Cepacia

A

Causes accelerated decline in FEV1 and increase in mortality

Can get Cepacia syndrome which is fever , consolidation, sepsis , inflammation and death

very resistant and difficult to treat can be barrier to transplant

26
Q

Outline M. abscessus in CF

A

Accelerated lung function decline, multi resistant to eradication and contraindication to lung transplant

27
Q

Which drugs affect CFTR Function?

A

Ivacaftor

28
Q

Which drugs affect CFTR quantity ?

A

Tezecaftor
Elexacaftor
Lumacaftor

29
Q

Outline Haemoptysis as complication in CF

A

Mortality 5-16%

Haemoptysis - 4% will have massive ; more likely if older of FEV1 <40%

Bleeding from bronchial circulation in 90% (usually bronchial circulation only carries 1% of cardiac output but this increases in disease as chronic hypoxia and inflammation drives angiogenesis and bronchial hypertrophy)

Massive >100ml in day or 250mls one go

if mild : continue physio and dornase but stop hypertonic and mannitol

If severe stop everything ; TXA; broad spectrum abx ; bleeding side down; terli ; BRONCHIAL ARTERY EMBOLISATION - gold standard

30
Q

What are the risks of bronchial artery embolisation?

A

Chest pain
Inflammation and exacerbation
Pulmonary infarct
aberrant spinal pathways
Stroke

31
Q

Why do CF patients get pneumothoraces ?

A

Endobronchial obstruction due to accumulation of viscous secretions, air trapping and over pressure in alveolar causes them to pop

32
Q

What is the risk of PTX in CF patients ?

A

3% ; mortality 6-14 %

33
Q

How do we treat PTX in CF patients ?

A

Will always need a drain ; VATs if surgery needed , try to avoid chemical Pleurodesis as difficult to transplant

Cover with abx

34
Q

What percentage of CF patients get pancreatic insufficiency?

A

85%

30% will become diabetic

35
Q

What percentage of CF patients will have liver problems ?

A

20% ; 6-8% will have established cirrhosis

All <20 years

36
Q

What cancers are more common in CF patients ?

A

X6 increase risk of GI cancers , occur at younger age

Should have colonoscopy every 5 years

37
Q

What percentage of CF patients have diabetes ?

A

40% @ 40 years

38
Q

What are the classes of CFTR mutations

A

Class I-III No residual CFTR function
Class IV-VI Some residual CFTR function

Class II F508 del most common - defective protein maturation and trafficking

39
Q

Outline the classes of CFTR mutation

A

Class I : Defective protein synthesis (G542X)

Class II: Defective protein maturation and trafficking (F508del)

Class III: Impaired chloride channel opening (G551D)

Class IV: Defective channel ion transport (conductance)R117H

Class V: Defective splicing

Class VI: Accelerated turn over at cell surface

40
Q

What is bronchial dilatation suggested by ?

A

Bronchoarterial ratio >1
Lack of tapering
Airway visibility within 1cm of costal pleural surface or touching mediastinal pleura

41
Q

What are indirect signs commonly associated with bronchiectasis ?

A

Bronchial wall thickening
Mucous impaction
Mosaic perfusion / air trapping on expiratory CT

42
Q

What treatment should be used in non Pseud colonised Bronchiectasis patients that are exacerbating ≥ 3 per year

A

Azithromycin (250mg x3 per we week)

Doxy is an alternative

43
Q

What treatment should be used in Pseud colonised Bronchiectasis patients that are exacerbating ≥ 3 per year

A

Inhaled Colistin
(Inhaled Gent is a 2nd line)

If cont to have high exacerbation frequency can consider azithromycin as an addition

If 5 or more exacerbations despite the above then regular IV abx every 2-3 months

44
Q

What is the advice with long term aminoglycosides ?

A

Avoid if CrCl <30
Caution if hearing loss
Avoid concomitant nephrotoxics
Needs challenge test prior

45
Q

In which bronchiectasis patients do we consider cyclical abx ?

A

Those with 5 or more exacerbations per year despite optimal tx

46
Q

Which bronchiectasis patients get PR?

A

Those with MRC ≥ 2 (mMRC ≥ 1)

47
Q

Which bronchiectasis patients get surgery ?

A

Those with localised disease where symptoms are not controlled by medical treatment optimised

48
Q

What are the criteria for transplant for bronchiectasis ?

A

<65 and FEV1 <30% with significant clinical instability

Consider earlier referral if :
- massive haemoptysis
- severe secondary pulmonary HTN
- ICU admission
- Resp failure

49
Q

What is first line eradication therapy for Pseudomonas in Non CF bronchiectasis ?

A

Ciprofloxacin 500mg or 750mg BD for 2/52

Second line :
IV Beta lactase +/- IV aminoglycoside for 2/52 followed by 3/12 of nebulised colistin , gentamicin or Tobramycin

50
Q

With patients with bronchiectasis and CVID or x Linked agammaglobulinaemia how would you treat ?

A

Offer IgG treatment

51
Q

What ix should all bronchiectasis patients have ?

A

FBC, serum immunoglobulins, serum IgE and Aspergillus specific IgE

52
Q

Outline PCD

A

Autosomal recessive disorder
usually diagnosed in childhood
Incidence 0.9-10.3%

Nasal nitric oxide levels are abnormally low in PCD

Fx of PCD: Otitis media , male infertility , situs invertus

Respiratory SCE (15 decks)

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