Respiratory Flashcards
Risk factors for asthma?
Genetic: atrophy
Environmental: allergens, hygiene hypothesis, adult-onset (e.g. occupational)
What is asthma?
Allergic airway problem causing airway obstruction
Asthma triggers?
Aeroallergens Exercise Anxiety/stress Temperature changes Cigarette smoke Foods, additives Occupational agents e.g. isocyanates Drugs: NSAIDs, b-blockers
What predisposes people to getting asthma?
Airway hyperresponsiveness
Sensitisation to house dust mites
Female
Smoking at age 21
Obstructive spirometry?
FEV1 < 80% predicted
FVC normal/low
FEV1/FVC < 70%
How to investigate asthma?
Spirometry Peak flow Reversibility testing Chest x-ray Blood eosinophils IgE Skin prick tests
What is a positive reversibility test result for asthma?
> 400 ml improvement or symptom scores
How to diagnose asthma?
Clinical diagnosis based on presence of symptoms (dyspnoea, cough, wheeze)
Supported by evidence from investigations
Features supportive of an asthma diagnosis?
Wheeze Dyspnoea Chest tightness Especially after a trigger Widespread wheeze on auscultation Unexplained low FEV1 or PEF
Factors that don’t support an asthma diagnosis?
Dizziness, light-headedness, peripheral tingling -> hyperventilation
Chronic productive cough without wheeze or dyspnoea -> COPD, bronchiectasis, chronic cough syndrome
Repeatedly normal examination when symptomatic
Vocal disturbance -> vocal cord dysfunction
Symptoms only with colds -> bronchial hyper-reactivity syndrome
> 20 pack year SHx -> COPD
Cardiac disease
Normal PEF/spirometry when symptomatic
What to do if you suspect asthma?
Trial asthma treatment
If successful: continue
If not successful: assess inhaler technique and compliance
If no further improvement: consider other causes, referral
Non-pharmacological management of asthma?
Avoid triggers
Pharmacological management of asthma?
Stepwise approach 1. Low dose ICS and SABA PRN 2. Add inhaled LABA 3. Can stop LABA if no response Can increase ICS dose Can add in a trial therapy 4. High dose ICS Can add in a fourth drug e.g. LAMA Referral 5. Daily steroid tablet High dose ICS Referral
Name some SABAs?
Salbutamol
Terbutaline
What treatments can you consider in severe asthma clinics?
High dose ICS Tiotropium Immunosuppressants Macrolide antibiotics Biologics e.g. anti IgE (omalizumab), anti IL-5 (mepolizumab)
Asthma add on therapies?
LABA + ICS e.g. Foster Leukotriene receptor antagonists Theophylline Higher dose ICS Oral steroids
What is the main cause of acute asthma exacerbations?
Viral URTI
How to manage acute asthma exacerbations?
ABCDE
High flow O2 -> aim for sats 94%
Salbutamol MDI + spacer or O2 driven nebuliser
Add ipratropium if no response (SAMA)
Engage critical care team if very severe
Prednisolone 40 mg for 5 days to reduce chance of recurrence
How to prevent acute asthma exacerbations?
Asthma management plan
Annual review
Identify the at risk patients
What is COPD?
Inflammatory airway problem causing chronic airway obstruction
Environment risk factors for COPD?
Cigarette smoking Environmental tobacco smoke Occupation: dust, chemicals Indoor and outdoor pollution Infections Socio-economic status
Host risk factors for COPD?
Genes- alpha-1 antitrypsin deficiency
Hyper-responsiveness
Poor lung growth
Increasing age
Pathology of COPD?
Inflammatory airway problem causes small airway narrowing and alveolar destruction
Triad of COPD pathological changes?
Bronchial gland enlargement
Emphysema
Bronchiolitis
What is chronic bronchitis?
Hyperplasia of goblet cells -> hypersecretion of mucus
Cough productive of sputum on most days for 3 months over 2 consecutive years
What is emphysema?
Abnormal, permanent enlargement of airspaces distal to the terminal bronchioles and destruction of their walls without obvious fibrosis
Types of emphysema?
Centrilobular emphysema: common in smokers
Pan-lobular emphysema: common in alpha-1 antitrypsin deficiency
COPD symptoms?
Dyspnoea
Chronic cough
Chronic sputum production
Physical examination of COPD?
Tachpnoea Accessory muscle use Pursed lip breathing Hyper-inflation: this makes it hard to localise the apex beat Hoover's sign Reduced breath sounds Wheeze Respiratory crackles Central cyanosis Flapping tremor Peripheral oedema Weight loss/loss of muscle mass
Common triggers of COPD exacerbations?
Bacteria
Virus
Pollutants
Investigations for COPD?
Modified MRC questionnaire (mMRC)
COPD assessment test (CAT)
Spirometry
Chest x-ray
Lung volume and diffusing capacity (severity)
Oximetry and ABG
Genetic screening if < 45 years or strong FHx
What is the reversibility testing result in COPD?
> 200 ml and 12% of pre-drug value
If > 400 ml -> think asthma
How to assess severity in COPD?
Post-bronchodilator FEV1
GOLD ABCD assessment
Post-bronchodilator FEV1 severity in COPD?
Stage I (mild): FEV1 ≥ 80% predicted Stage II (moderate): FEV1 50-79% predicted Stage III (severe): FEV1 30-49% predicted Stage IV (very severe): FEV1 < 30% predicted or < 50% with respiratory failure
GOLD ABCD severity assessment for COPD?
A: low risk, less symptoms
B: low risk, more symptoms
C: high risk, less symptoms
D: high risk, more symptoms
COPD management?
Reduce risk factors
Smoking cessation
Pulmonary rehabilitation
SABA or LABA
Bronchodilators dependent on GOLD severity
Nebuliser: consider if FEV1 < 50% post bronchodilator or very symptomatic
COPD drug management based on GOLD severity?
A: Bronchodilator B: LABA or LAMA Then LABA + LAMA C: LAMA Then LAMA + LABA OR LABA + ICS D: LAMA OR LAMA + LABA OR LAMA + ICS Then LAMA + LABA + ICS Then Roflumilast (FEV1 < 50%) or macrolide (former smoker)
COPD exacerbation management?
Optimise bronchodilators Use a nebuliser Antibiotics Short course of oral corticosteroids Treat respiratory failure if present Oxygen Ventilation if needed
How to treat Type 1 respiratory failure?
Controlled oxygen
How to treat Type 2 respiratory failure?
Controlled oxygen Nebulisers Antibiotics Oral corticosteroids Monitor
What is bronchiectasis?
Chronic inflammation of the bronchi and bronchioles -> permanent dilation and thinning of the airways
Causes of bronchiectasis?
Congenital: cystic fibrosis, Young’s syndrome, primary ciliary dyskinesia, Kartagener’s syndrome
Post-infective: measles, pertussis, bronchiolitis, pneumonia, TB, HIV
Other: bronchial obstruction, allergic bronchopulmonary aspergillosis, hypogamaglobulinaemia, RA, UC
Idiopathic
Common presentation of bronchiectasis?
Recurrent pulmonary infections
Bronchiectasis symptoms?
Persistent cough
Copious purulent sputum
Intermittent haemoptysis
Bronchiectasis signs?
Finger clubbing
Course inspiratory crackles
Crackles often clear after coughing
Wheeze
Complications of bronchiectasis?
Pneumonia Pleural effusions Pneumothorax Haemoptysis Cerebral abscess Amyloidosis
Investigations for bronchiectasis?
Sputum culture Chest x-ray CT scan Spirometry: obstructive pattern Bronchoscopy Serum immunoglobulin CF sweat test Aspegillus precipitants or skin prick test RAST and total IgE
Bronchiectasis signs on chest x-ray?
Tramline and ring shadows
Thickened bronchial walls
Cystic shadows
Bronchiectasis signs on CT?
Signet ring sign
Types of pulmonary TB?
Active infection
Latent infection
When is TB transmissible?
From a person with an active infection
Clinical features of TB?
Low-grade fever Anorexia Weight loss Malaise Night sweats Pleuritic pain Clubbing (due to bronchiectasis) Erythma nodosum
Clinical features of pulmonary TB?
Cough: dry then productive Pleurisy Haemoptysis Pleural effusion Aspergilloma/mycetoma may form in cavities Asymptomatic or atypical presentation
Investigations for active TB?
Chest x-ray Sputum acid-fast bacilli (AFB) smear Sputum culture FBC Nucleic acid amplification test (NAAT)
Investigations for latent TB?
Tuberculin skin test (TST)
Interferon-gamma release test (IGRAS)
Treatment of active TB?
Notify local public health protection
NAAT for drug resistance
Antibiotics
What are the antibiotics used in TB?
Rifampicin
Isoniazid
Pyrazinamide
Ethambutol
What lung diseases can Aspergillus cause?
Asthma
Allergic bronchopulmonary aspergillosis (ABPA)
Aspergilloma (mycetoma)
Extrinsic allergic alveolitis
What does ABPA stand for?
Allergic bronchopulmonary aspergillosis
What is the pathology of ABPA?
Type I and III hypersensitivity reactions to Aspergillus -> bronchoconstriction then permanent damage (bronchiectasis)
Clinical features of ABPA?
Wheeze Cough Sputum Mucus plugs containing fungal hyphae Dyspnoea Recurrent pneumonia
Investigations for ABPA?
Chest x-ray Sputum contains Aspergillus Positive skin test Aspergillus specific IgE RAST Positive serum precipitants Eosinophilia Raised serum IgE
Management of ABPA?
Prednisolone
Antifungal
Bronchodilators
Bronchoscopic aspire for mucus plugs
What is aspergilloma?
A fungus ball in a pre-existing cavity e.g. from TB or sarcoidosis
Clinical features of aspergilloma?
Usually asymptomatic Cough Haemoptysis Lethargy Weight loss
Investigations for aspergilloma?
Chest x-ray
Sputum culture
Aspergillus skin test
Management for aspergilloma?
Only if symptomatic
Surgical excision for solitary symptomatic lesions or severe haemoptysis
Investigations for invasive aspergillosis?
Sputum culture BAL Biopsy -> diagnostic Serum precipitants Chest x-ray Early chest CT Serial measurements of galactomannan
Treatment of invasive aspergillosis?
Antifungals e.g. voriconazole
What is extrinsic allergic alveolitis?
Hypersensitivity reaction to inhaled fungal spores in sensitised individuals
Acute clinical features of extrinsic allergic alveolitis?
Fever Rigors Myalgia Dry cough Dyspnoea Fine bibasal crackles
Chronic clinical features of extrinsic allergic alveolitis?
Finger clubbing Increasing and exertion dyspnoea Weight loss Type 1 respiratory failure Cor pulmonale
Investigations for extrinsic allergic alveolitis?
Bloods: FBC, ESR, serum antibodies ABG Chest x-ray Spirometry: restrictive disease (is reversible at first) BAL (for chronic disease) CT chest (for chronic disease)
Management of extrinsic allergic alveolitis?
Acute: remove allergen, oxygen, prednisolone
Chronic: allergen avoidance, long-term steroids
Can get compensation for some causes
Risk factors for bronchial carcinoma?
Cigarette smoking Passive smoking Asbestos Chromium Arsenic Iron oxides Radiation
Types of bronchial carcinoma?
Small cell: 15-20%
Non-small cell: > 80%
Types of non-small cell lung cancer?
Adenocarcinoma
Squamous cell carcinoma
Large cell carcinoma
Pathology of small cell lung cancer?
Aggressive
Neuroendocrine
Clinical features of lung cancer?
Systemic: Weight loss Anorexia Fatigue Night sweats Fever
Primary tumour: Cough Haemoptysis Wheeze (monophonic) Dyspnoea
Local invasion: Chest pain Dysphagia Hoarseness Stridor Superior vena cava obstruction Rib erosion Horner's syndrome (Pancoast's tumour)
Non-metastatic extra pulmonary: Endocrine Neurological Vascular Cutaneous Skeletal
Metastatic:
Bone
CNS/brain
Liver
Paraneoplastic: Hypercalcaemia due to ectopic PTH or bony metastases SIADH Ectopic ACTH Cerebellar syndrome Eaton Lambert syndrome Limbic encephalitis Cushings syndrome
Investigations for lung cancer?
Chest x-ray
CT chest and abdo
CT PET scan
Biopsy: CT guided, bronchial, liver, VATS/thorascoscopy, mediastinoscopy, EUS, resection
How is lung cancer staged?
TNM staging
Tissue diagnosis: biopsy, cytology (sputum, pleural fluid)
Common sites of lung metastases?
Mediastinal/hilar lymph nodes Peripheral lymph nodes Pleura Bone Liver Skin Brain Adrenal glands
What do you need to know about a patient before making a management plan for lung cancer?
ECOG performance status Exercise tolerance Activities of daily living Cardiac staus Renal or hepatic dysfunction Co-morbidities Other lung disease Cognitive impairment Fraility
When is lung cancer potentially curable?
Non-small cell
N staging < N3
If the patient is otherwise well and healthy
Management options for lung cancer?
Surgery Radiotherapy Chemotherapy Biologics Palliation
Types of surgery for lung cancer?
Lobectomy
Pneumonectomy
Wedge resection or segmentectomy
When do you use surgery for lung cancer?
When it is possible to treat
If the patient is well enough to tolerate surgery and loss of some lung tissue
Not for: metastases, nodal spread
What is radiotherapy for in lung cancer?
Does have a curable intent
Types of radiotherapy for lung cancer
Radical radiotherapy: for when other factors exclude surgery
Stereoblastic ablative radiotherapy: concentrated form for small peripheral lesions away from the mediastinum and important structures
What does chemotherapy do in lung cancer?
Extension of life
Improvement of quality of life
Palliation in lung cancer?
Radiotherapy for distressing complications e.g. SVCO, recurrent haemoptysis, pain (chest wall invasion, skeletal metastases)
Management for SVCO in lung cancer?
Dexamethasome -> reduces oedema
Anticoagulation
SVC stenting
Which cancers commonly cause secondary lung cancer?
Breast Kidney Uterus Ovary Testes Thyroid
What does PE stand for?
Pulmonary embolism
What is pulmonary embolism?
A venous thromboembolic event
Causes of pulmonary embolism?
Due to lower limb DVT: 80%
Right sided endocarditis
Tumours
Fat/ai/amniotic fluid emboli
Risk factors for pulmonary embolism
Recent surgery: abdo, hip, knee, post-op intensive care
Obs and gynae: pregnancy, puerperium, CCP, HRT
Cardio and resp: COPD, congestive cardiac failure
Lower limb: fracture, varicose veins
Stroke/spinal cord injury
Malignancy: abdo, pelvic, advanced/metastatic, concurrent chemotherapy
Increasing age
Previous proven VTE
Immobility
Thrombotic disorders
Trauma
Symptoms of pulmonary embolism?
Sudden onset shortness of breath Pleuritic chest pain Haemoptysis Dizziness Syncope
Signs of pulmonary embolism?
Pyrexis Cyanosis Tachycardia Hypotension Raised JVP Pleural rub Pleural effusion Signs of cause e.g. DVT
Investigations for pulmonary embolism?
Bloods: FBC, U&Es, LFTs, clotting factor, D-dimer
ABG
Chest x-ray
ECG
CT pulmonary angiogram (CTPA)
Ventilation-perfusion scan: for pregnancy, postpartum, renal damage
Chest x-ray findings in pulmonary embolism?
Most common: normal Oliguria Elevated hemidiaphragm Wedge-shaped opacity Horizontal linear opacities Pleural effusion Dilated pulmonary artery
ECG findings in pulmonary embolism?
Most common: normal
Sinus tachycardia due to right heart strain
What do you do if you suspect a pulmonary embolism?
Calculate a modified Wells score
> 4 -> immediate CTPA and LMWH
> 4 -> do a D-dimer -> +ve -> immediate CTPA and LMWH
How to calculate 30 day mortality in pulmonary embolism?
Simplified PESI score
Management of pulmonary embolism?
ABCDE assessment
Anticoagulation: either LMWH then warfarin or straight to DOAC
Management in a very large pulmonary embolism?
Oxygen if hypoxic Morphine IV Anti-emetic IV access -> heparin or fondaparinux IV fluids if hypotensive Thrombolysis if harm-dynamically unstable Long term anti-coagulation
What is the prediction sore for recurrent VTE?
DASH score
How to prevent pulmonary embolism and VTE happening?
LMWH to all immobile patients
Stop HRT and CCP pre-operatively
What is pleural cancer called?
Malignant mesothelioma
Causes of mesothelioma?
Asbestos exposure in 90%
Radiotherapy
Genetic predisposition
Clinical features of mesothelioma?
Chest pain Dyspnoea Weight loss Finger clubbing Recurrent pleural effusion Signs of metastases: lymphadenopathy, hepatomegaly, bone pain/tenderness, abdomen pain/obstruction
Investigations for mesothelioma?
Chest x-ray
Chest CT
Video assisted thoracoscopic surgery (VATS)
PET scan
What does the chest x-ray look like in mesothelioma?
Unilateral pleural effusion
Pleural thickening
Reduced lung volumes
Parenchymal changes due to asbestos exposure: lower zone linear interstitial fibrosis, pleural calcification, pleural plaques
What is empyema?
Pus in the pleural space
Types of pleural effusion?
Exudate
Transudate
What is an exudate?
> 30 g/l of protein
Due to increased microvascular pressure -> loss of vessel integrity (leaky vessels)
Causes of exudative pleural effusion?
Panarneumonic Malignancy Infection: TB, pancreatitis Inflammation: RA, SLE Post MI/CABG
What is a transudate?
< 30 g/l of protein
Due to increased hydrostatic pressure and decreased osmotic pressure
Causes of transudative pleural effusion?
Heart failure Liver failure Nephrotic syndrome Hypoalbuminaemia Peritoneal dialysis
How to distinguish an exudate from a transudate?
Protein levels
Light’s criteria
Symptoms of pleural effusion?
Dyspnoea
Pleuritic pain
Cough
Signs of pleural effusion?
Tachpnoea Reduced expansion on affected side Tracheal deviated away from effusion Dull percussion over effusion Absent breath sounds over effusion Reduced vocal resonance over effusion
Investigations for pleural effusion?
Chest x-ray USS CT Pleural aspiration: biochemistry, bacteriology, cytology Medical thoracoscopy vs VATS
Management of a pleural effusion?
Drainage via thoracentesis
Pleurodesis (not if the lung isn’t fully inflated)
What is a pneumothorax?
Air in the pleural space
Types of pneumothorax?
Closed
Open
Tension
What is a closed pneumothorax?
No communication between the airway and pleural space (seals off as the lung deflates)
What is an open pneumothorax?
Air can pass freely between the airway and pleural space
What is a tension pneumothorax?
Communication between the airway and the pleural space acts as a one way valve.
Air enters the pleural space on inspiration -> accumulates -> intrapleural pressure rises
What does the increased intrapleural pressure in tension pneumothorax cause?
Mediastinal displacement to opposite side
Compression of the normal lung
Impairment of the systemic venous return -> cardiovascular compromise
Causes of pneumothorax?
Spontaneous
Traumatic
Causes of spontaneous pneumothorax?
Primary: no evidence of lung disease
Secondary: presence of underlying lung disease e.g. COPD, TB, asthma, lung abscess
Risk factors for spontaneous pneumothorax?
Smoking
Tall stature
Presence of apical sub pleural blebs
Causes of traumatic pneumothorax?
Post thoracic surgery
Biopsy
Chest wall injury
Symptoms of pneumothorax?
Sudden onset dyspnoea
Sudden onset unilateral pleuritic chest pain
Signs of a small pneumothorax?
Examination may be normal
Signs of a larger pneumothorax?
Decreased/absent breath sounds
Hyper-resonant percussion
Reduced chest expansion on affected side
Resonant percussion
Symptoms and signs of tension pneumothorax?
Rapidly progressive dyspnoea Respiratory distress Distended neck veins Tachycardia Hypotension Cyanosis Trachial deviation away from affected side Hyper-resonant percussion Reduced breath sounds
Investigations for pneumothorax?
Chest x-ray
ABG
Do you need investigations to diagnose tension pneumothorax?
No, it is a clinical diagnosis at examination
Management of a spontaneous pneumothorax?
May resolve spontaneously
Aspirate air
Chest x-ray to confirm resolution
Chest drain
Management of a tension pneumothorax?
Medical emergency
Insert large-bore needle with syringe into 2nd intercostal space in midclavicular line -> converts to an open pneumothorax
Insert chest drain
What is interstitial lung disease?
Diseases where there is inflammation and/or fibrosis primarily to the lung interstitium
Types of ILD?
Known cause/association
Unknown cause
Miscellaneous cause and rare
Known causes/associations of ILD?
Inhaled dusts/antigens/fibres: coal worker’s pneumoconiosis, asbestosis, silicosis, hypersensitivity pneumonitis
Iatrogenic: drugs (amiodarone, methotrexate, leflunamide, biologics, nitrofurantoin, sulphasalazine, bleomycin), radiation
Connective tissue disease: rheumatoid, systemic sclerosis
Smoking related: respiratory bronchiolitis ILD, desquamative interstitial pneumonia, langerhans cell histiocytosis
Unknown causes of ILD?
Sarcoidosis
Idiopathic pulmonary fibrosis (IPF)
Idiopathic non-specific interstitial pneumonia (NSIP)
Crytogenic organising pneumonia (COP)
Idiopathic acute interstitial pneumonia (AIP)
Miscellaneous and rare causes of ILD?
Eosinophilic pneumonia Lymphangioleiomyamotosis Alveolar proteinosis Lipid pneumonia Lymphoytic interstitial pneumonia
Signs of ILD?
Finger clubbing
Lung crepitations
Lack of wheeze
Signs of connective tissue disorders
Investigations for ILD?
Chest x-ray
Who gets idiopathic pulmonary fibrosis?
Older
Men
Smokers
Symptoms of idiopathic pulmonary fibrosis?
Dyspnoea
Cough- usually dry
What symptoms don’t present in idiopathic pulmonary fibrosis?
Orthopnoea PND Haemoptysis Wheeze Chest pain
Signs of idiopathic pulmonary fibrosis?
Bibasal fine mid and late inspiratory crackles
Finger clubbing
Investigations for idiopathic pulmonary fibrosis?
Spirometry- restrictive Lung function- reduced volume Chest x-rau High resolution CR Surgical lung biopsy
Restrictive spirometry?
FEV1 < 80%
FVC < 80%
FEV1/FVC > 70%
How to monitor disease progression in idiopathic pulmonary fibrosis?
Change in FVC
> 10% decline over 6-12 months = poorer prognosis
Non-pharmacological management of idiopathic pulmonary fibrosis?
Smoking cessation
Treat acid reflux symptoms
Ambulatory and domiciliary oxygen if hypoxic
Pulmonary rehabilitation
Lung transplantation (if young without co-morbidities)
Early palliative care engagement
Drugs to manage idiopathic pulmonary fibrosis?
Pirfenidone
Nintedanib
Do drugs for idiopathic pulmonary fibrosis cure it?
No, they just slow the disease progression
Side effects of drugs for idiopathic pulmonary fibrosis?
Rash Photosensitivity Nausea Dyspepsia Weight loss Diarrhoea
What is sarcoidosis?
Systemic disease of unknown aetiology characterised by presence of non-caveating granulomas
Symptoms of sarcoidosis?
Rash Iritis (eyes) Arthralgia Facial nerve palsy Cirrhosis Fatigue Hypercalcaemia symptoms Enlarge lymph nodes Night sweats Cough- usually dry Dyspnoea
Signs of sarcoidosis?
Chest examination is often normal
Evidence of systemic disease
Crackles rarely
Do you stage sarcoidosis?
Only for the pulmonary disease?
Sarcoidosis staging?
Stage 1: bilateral hilar lymphadenopathy with normal lung parenchyma
Stage 2: bilateral hilar lymphadenopathy with lung infiltrates
Stage 3: lung infiltrates without hilar node enlargement on chest x-ray
Stage 4: pulmonary fibrosis
Investigations for sarcoidosis?
Chest x-ray: for staging Pulmonary function tests Bloods: calcium, SACE (may be raised) Skin test: tuberculin skin test often negative Biopsy: for diagnosis
Aim of sarcoidosis management?
Reduce symptoms and prevent permanent organ damage
Does stage 1 sarcoidosis need treatment?
Hardly ever
When do you treat stage 2 and 3 sarcoidosis?
Evidence of active progressive lung disease or chest symptoms
Drugs used to manage sarcoidosis?
Corticosteroids: 5 phase therapy plan over 18-24 months
Causes of hypersensitivity pneumonitis?
Birds
Mould
Allergens
How to diagnose hypersensitivity pneumonitis?
Restrictive lung function tests
Investigations for hypersensitivity pneumonitis?
Chest x-ray
High resolution CT
What does a hypersensitivity pneumonitis HRCT show?
Ground glass sign
Management of hypersensitivity pneumonitis
Remove the allergen
Steroids
Lung biopsy if suspicious of another cause
What is the inheritance pattern for cystic fibrosis?
Autosomal recessive
1/25 are carriers
1/2,500 live births
What does the cystic fibrosis mutation cause?
Thick, sticky secretions
Pancreas: blocked exocrine ducts, auto-destruction of exocrine pancreas
Intestine: bulky stools caused obstruction
Respiratory system: mucus retention, chronic infection and inflammation, destruction of lung tissue
Clinical features of cystic fibrosis in neonates?
Failure to thrive
Meconium ileus
Rectal prolapse
Clinical features of cystic fibrosis in children and young adults?
Respiratory: cough, wheeze, recurrent infection, bronchiectasis, pneumothorax, haemoptysis, respiratory failure, co pulmonale
GI: pancreatic insufficiency, distal intestinal obstruction syndrome, gallstones, cirrhosis
Other: male infertility, osteoporosis, arthritis, vasculitis, nasal polyps, sinusitis, hypertrophic pulmonary osteoarthropathy
Signs of cystic fibrosis?
Cyanosis
Finger clubbing
Bilateral course crackles
Investigations for cystic fibrosis?
Bloods: FBC, U&Es, clotting, vitamin A, D, E, annual GTT Bacteriology: cough swab, sputum culture Chest x-ray Abdominal ultrasound Spirometry Biochemistry: faecal fat analysis
Is cystic fibrosis obstructive or restrictive?
Obstructive
Cystic fibrosis chest x-ray appearance?
Hyper-inflation
Bronchiectasis
Diagnosis of cystic fibrosis?
Newborn screening (immunoreactive trypsinogen test)
Sweat test
Genetic testing
Management of cystic fibrosis?
Chest physiotherapy Antibiotics for infective exacerbations and prophylaxis Mucolytics Bronchodilators Annual chest x-ray Advanced lung disease: oxygen, diuretics, non-invasive ventilation, lung or heart/lung transplant Good nutrition Oral pancreatic enzyme replacement Insulin for diabetes Fat soluble vitamin supplements Ursodeoxycholic acid for impaired liver function Liver transplant Screening and treatment for osteoporosis Fertility and genetic counselling
Cystic fibrosis prognosis?
About 41 years in the UK
What does alpha-1 antitypsin deficiency cause?
Pulmonary: emphysema
Hepatic: cirrhosis, hepatocellular carcinoma
Management of alpha-1 antitrypsin deficiency?
Smoking cessation
Prompt treatment for lung infections
Vaccinations: flu, pneumococcal
Transplantation: liver, lung
What is obstructive sleep apnoea hypopnea syndrome?
Episodes of complete/partial airway obstruction during sleep
Risk factors for obstructive sleep apnoea?
Obesity Male Wide neck circumference Anatomical abnormalities e.g. receding lower jaw Post-menopausal PCOS
Clinical features of obstructive sleep apnoea?
Chronic snoring Insomnia Gasping Breath holding Unrefreshing sleep Daytime sleepiness
How to score sleep quality?
Epworth sleepiness score
Investigations for obstructive sleep apnoea?
Epworth sleepiness score
Polysomnography sleep tests
Management of obstructive sleep apnoea?
Continuous positive airway pressure (CPAP) Weight loss Reduce/stop evening alcohol Relieve nasal congestion Advise on sleep hygiene