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UCL MBBS (Fach) / Clinical conditions (Lektion)

Clinical conditions

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  • Marfan's syndrome Aetiology: defect in the fibrillin-1 gene; "young tall slim men"; autosomal dominant   Complications: Mitral vavle prolapse Dural ectasia Aortic aneurysm / dilation of aortic sinus Posterior/upwards dislocation of the lens Long fingers, wide arm span Primary pneumothorax Arched palate
  • Pleural effusion Exudate vs transsudate: protein, pH, cytology, microbiology Causes
  • z Arrhythmias If CV compromise ⇒ DC cardioversion Else, control rate; correct electrolyte abnormalities; anticoagulate?; consider pharmacological cardioversion Shockable: VF, pulseless VT non-shockable: VT w/ pulse, PEA → AF, SVT, VT, ALS
  • Chronic asthma Definition: paroxysmal reversible obstruction, diurnal variation, wheeze & shotness of breathClassification: Idiopathic, allergic, occupational, etcSymptoms: Wheeze, shortness of breath, cough; worse in the morning / cold, during / afteer exercise; atopy - hayfever, eczemaSigns: Polyphonic wheeze, hyperexpansion, reduced peak flowInvestigations: Serial peak flows, CXR, lung function tests (→obstructive pattern, reversible?)Management: Lifestyle: avoid triggers, e.g. allergens Pharmacological Reliever - Short-acting β2-agonists (SABA) PRN - salbutamol/terbutaline +Preventer - Inhaled corticosteroids BD - beclamethasone, budesonide +Long-acting β2-agonists (LABA) BD - salmeterol Increase steroids or +LT's - zileuton (5-LOX-I), zafirlukast/monteleukast (D4,E4 antagonist); mast cell stabiliser - cromolyn sodium, ipratropium (mACh antagonist), theophylline Oral corticosteroids (prednisolone) → referral Counselling: Inhaler technique; avoid drugs (β-blockers, NSAIDs); allergy testing; peak flow (PEF) technique + monitoring
  • COPD Spectrum between emphysema and bronchitisDefinition: emphysema - pathological: dilation of the airways beyond the terminal bronchioles, functionally obstructive; bronchitis - clinical: productive cough for most days in at least three months of the last two years Obstructive LFT (FEV1/FVC < 70% predicted), severity according to FEV1: 0.8 - 0.5 - 0.3 Symptoms: SoB, productive cough, exercise intolerance, wheezeSigns: Dyspnoea, plyphonic wheeze, barrel chest, tracheal tugManagement: Stop smoking, pulmonary rehabilitian, moderate exercise Pharmacological Step 1: SAMA or SABA Step 2: LAMA or (LABA ± ICS) Step 3: LAMA  + LABA + ICS → non-/infective exacerbations
  • Peripheral artery disease Claudication distance Complications Management: medical vs surgical
  • Atherosclerosis Pathology: Atheroma formation etc Clinical manifestations: PVD, ACS, stroke, renal vascular disease Treatment: conservative (WAFFLES), medical (statins), surgical (endarterectomy)
  • Interstitial lung disease Spectrum: chronic interstitial fibrosis vs organizing pneumonia Causes: Drugs: methotrexate, amiodarone, bleomycin, nitrofurantoin Allergens: extrinsic allergic alveolitis Inhaled particles: asbestos (→lower lobe), sillicon infections: TB, fungi, viral systemic: sarcoid, SLE, RA, systemic sclerosis, etc. granulomatous: Wegener's, TB idiopathic (→lower lobe) Symptoms: Shortness of breath Signs: Fine end-insp crep's, restricitve spirometry Diagnosis: HRCT (ground glass) Management: Treat underlying cause Supportive: O2, pulm rehab, opiates, lung transplant
  • Pleural effusion Causes Transudate Exudate   Signs   Management  
  • Pneumothorax Definition   Causes 1ary 2ary   Signs   Management
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  • z Lung cancers Definition: 1ary bronchogenic carcinomaClassification: Non-small cell: Squamous (smoking), adeno, large (always high grade), bronchoalveolar Small cell: limited/extensive, no grading Symptoms: Cough, dyspnoea, late haemoptysis + chest pain; constitutional (weight loss, lethargy, nihgt sweat)Signs: Consolidation, paraneoplastic syndromes: Lambert-Eaton, HPOA, PTH-rP; ACTH, ADHStaging: T1-4 N1-3 M0-1Investigations: Bloods, CXR, CT, bronchoscopy (→biopsy, brushing), transthoracic biopsy, bone scan, CT abdo/pelvis/brain for mets in SSLCManagement: Stage 1-2: Curative lobectomy ± adjuvant radio-/chemotherapy Higher stage: radio-/chemotherapy Small-cell: aggressive chemo-therapy Biologicals: erlotinib etc. Complications: Paraneoplastic syndromes; metastases → bones, brain, adrenal → Mesothelioma, lung metastases; benign lung tumours; mets from breast, lymphoma, TB
  • Respiratory failure Defintion: Hypoxis < 8 pO2 Type 1: w/o hypercapnia Type 2: w/ hypercapnia   Causes   Management
  • SVC obstruction Definition: Obstruction of the supervior vena cava; due to lung tumour, lymphoma or metsSymptoms: shortness of breath, arm swellingSigns: facial plethora, prominent neck veins, upper limb oedemaInvestigations: CXRManagement: High-dose steroids, e.g. dexamthasone, palliative stent; surgery
  • Venous thromboembolism Definition: fibrin-rich clots in venous system, e.g. Deep Vein Thrombosis, Pulmonary Embolus Risk factors: Personal / family history, immobility, pregnancy, malignancy, polycythaemia, female, thrombophilias (→ PhosphoLipid Syndrome, Factor V Leiden, protein C/S deficiency) Symptoms; Pain (leg,pleuritic), swelling, SoBSigns: Erythema, leg swelling, tenderness; pleural rub Investigations: D-Dimer if low risk (Wells score < 2). Doppler, ECG (right heart strain), CXR (wedge shaped infarct, or normal) Management: Conservative: TED stockings, early mobilisation Medical: Treatment: LMWH high dose + 3 (6) months of anticoagulation if (un)provoqued Prevention: LMWH low dose, oral anticoagulation; thrombophilia screen Surgery: thrombectomy → drugs (enoxaparin, dalteparin; heparin; warfarin); arterial thrombosis
  • Pneumonia Definition: CURB+65 plus positive CXR Symptoms: Dyspnoea, fever, productive cough, haemoptysisSigns: Tachypnoea, fever, consolidation (bronchial breathing, dull percussion, reduced air entry, reduced expansion), sepsis; Quantify with CURB-65Investigations: CXR, ABG, sputum3 (stain, culture, sensitivity), bloods (FBC, CRP/ESR), blood cultureManagement: Dr ABCDE Mild - moderate CAP: Empirical: Amoxicillin ± clarithromycin; Severe CAP: Empirical: Co-amoxiclav/teicoplanin + clarithromycin HAP: Tazocin + gentamicin Pathogens: Typical: S. pneumoniae, S. aureus, Klebsielle Atypical: Mycoplasma (→ EM rash, cold agglutination), chlamydia pneumonia + psitaccii, legionella, bruxiella Immunocompromised: pneumocystis jirovecii (→ co-trimoxazole) Aspiration: chemical, anaerobes (→ ciprofloxacin)
  • HIV / AIDS Pathology Antiretroviral therapy AIDS-defining illnesses pneumocystic jirovecii pneumonia, pulm TB crytococcal meningitis, cerebral toxo, primary CNS lymphoma / high grade B-Cell Kaposi sarcoma, invasive cervical cancer CMV retinitis Test: Ab/Ag vs point-of care; window period; REEBA
  • Upper respiratory tract infections Strep throat Sinusitis
  • Cystic fibrosis Definition: autosomal recessive chloride channel deficiency; commonest mutation ΔF508 in CFTR Epidemiology: carrier freq 1:50 ⇒ clinical prevalence 1:2500 Symptoms: failure to thrive, chest infections, exocrine panreatic failure, diarrhoea, infertility Investigations: Sweat test, molecular testing Complications: Bronchiectasis (clubbing etc; → heart-lung transplant), diabetes Treatment: Chest physio, digestive enzymes ("creon"), fat soluble vitamin supplements (A, E, D, K); prophylactic antibiotics (e.g. azithromycin); genetic counseling Prognosis: Median survival 50 years
  • Sarcoidosis Serum ACE → ↑Ca2+ (myeloma, bone mets, 1° hyperparathyroidism, CKD) Erythema nodosum (→pregnancy; drugs; non-/infectious granulomata) DDx for hilar lymphadenopathy: TB, Lymphoma, bronchial Carcinoma / mets
  • Lymphangioleiyomyomatosis (LAM) --
  • Asbestosis Definition: Interstitial lung disease associated with asbestos exposure Diagnosis: History, restrictive LFT, pleural plaques on CXR Management: Stop smoking, chest rehab / physio; steroids → ILD, IPF, mesothelioma
  • Extrinsic allergic alveolitis --
  • Allergic bronchopulmonary aspergillosis Do HIV test
  • Pulmonary haemorrhage TB, vasculitis, malignancy, trauma
  • Pulmonary hypertension 2ary in adults 1ary in children
  • Cor pulmonale --
  • Pulmonary embolus --
  • Emphysema Spectrum of COPD, histological diagnosis, dilated terminal air spaces → chronic bronchitis
  • Vasculitis Classification Small medium large Investigation: Vasculitis screen - ESR, CRP, various antibodies Urine dipstix! BP!
  • z Anaphylaxis Definition: Severe, potentially life-threatining allergic reactionSymptoms: Wheeze, laryngeal swelling, rash, sweatingCauses: Drugs (peniciilin, ...), toxins (wasps, ...), food Management: Stop insult if possible Oxygen, blood pressure (reposition → flat, or receovery position) Adrenaline 1:1,000 IM: < 6yrs = 150μg≅0.15ml; 6-12yrs = 300μg≅0.3ml; > 12yrs = 500μg≅0.5ml Antihistamine: Chlorphenamine 10mg IV over one minute; max 4x Steroids: Hydrocortisone 200mg IV Salbutamol: 2.5mg NEB → angiooedema
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  • Henoch-Schoenlein purpura IgA-mediated small vessel vasculitis Associations: Palpable, purpuric rash up to the buttocks IgA nephropathy
  • Budd-Chiari syndrome Definition: Thrombosis of the heaptic veins, leading to congestionEffects: Hepatic cirrhosis → Arnold-Chiari malformation
  • Pernicious anaemia Vit B12 deficiency due to auto-antibodies against gastric parietal cells / intrinsic factor Symptoms: Fatigue, lethargy, SoB, fainting Features: Macrocytic megaloblastic anaemia Diagnosis: FBC, blood film antibody levels bone marrow classical: Schilling test
  • Huntington's disease Aetiology: CAG triplet repeats (huntingtin gene) causing degeneration of cholinergic and GABAergic neurons in the striatum of the basal ganglia   Symptoms: Chorea, personality change, cognitive decline in mid 30s
  • Diabetes mellitus, classification Type I Type II MODY 1-2-3 LADA Gestational Neonatal
  • MODY 2 Maturity-onset diabetes of the young, type 2   Aetiology: defect in glucokinase gene, coding for glucose sensor in pancreatic β-cells autosomal dominant
  • MODY 3 Maturity-onset diabetes of the young, type 3 Aetiology: defect in the HNF-1α gene coding for trascription factor redcued pancreatic mass and function   Treatment: Sulfonylureas Insulin
  • Androgen-insensitivity syndrome Aetiology: end-organ resistance to testosterone; e.g. 5-α-reductase deficiency, receptor mutations, chromosomal syndromes; classified as complete, partial, mild Symptoms: female secondary sexual characteristics in genotypical males →ADT for prostate ca (finasteride, dutasteride)
  • z 5-α reductase deficiency Aetiology:  inability to convert testosterone to dihydrotestosterone Symptoms: Female phenotype until puperty
  • Hereditary angioedema Aetiology: C1-INHibitor deficiency Symptoms: swelling, angioedema Treatment: →danazol, blood-derived C1-inhibitor
  • Factor V Leiden Definition: Commonest inherited thrombophiliaAetiology: Mutant factor V resistant to degradation by activated protein C; autosomal dominant, incomplete inheritanceSymptoms: hypercoagulability → DVT, PE, TIAInvestigations: ↓APTT, not corrected by adding protein CManagement: Anticoagulation → aPL-Sx; vW disease, haemophilia A,B,C
  • Idiopathic thrombocytopenic purpura (ITP) Aetiology: autoantibodies directed against the glycoprotein IIb/IIIa or Ib-V-IX complex Symptoms: Bruises, petechiae, epistaxis, menorrhagia subarachnoid, intracerebral haemorrhage GI bleeding Treatment: (usually self-limiting, only if significant bleeding, or ?platelets < 20/µl) Corticosteroids: i.v. dexamethasone, p.o. prednisolone Anti-D immunosuppressants thrombopoietin receptor agonists surgery: splenectomy platelet transfusion H. pylori eradication  
  • Porphyria Enzyme disorders leading to abnormal heme / porphyrin depositions; hereditary or aquired   Acute intermittent (hepatic): defect in porphobilinogen deaminase neuropathy, vomiting, abdominal pain   Cutanea tarda (erythropoietic): defect in uroporphyrinogen decarboxylase photosensitivty, blisters, necrosis, itiching
  • Sideroblastic anaemia Aetiology: Congenital: δ-aminolevulinate synthase-2 (ALAS2) deficiency, X-linked SLC5A38, autosomal recessive part of genetic syndrome Acquired clonal reversible Symptoms: Fatigue, dizziness, paleness heart, liver, kidney failure due to iron deposition Signs: microcytc anaemia sideroblasts in bone marrow: abnormal erythroblasts w/ iron granules Diagnosis: high iron, high ferritin, normal TIBC Treatment: Erythropoietin Pyrodoxine (Vit B6) → Iron-deficiency anaemia, anaemia of chronic disease; B12/folate deficiency
  • Lead poisoning Aetiology: defective ferrochelatase and ALA dehydratase function, pica Symptoms: peripheral neuropathy, blue lines on gum margin, abdominal pain Signs: microcytic anaemia, basophillic stippling Treatment removal from exposure chelation: dimercaprol, EDTA
  • Paget's disease of the bone Aetiology: excessive osteoclastic resorption followed by increased osteoblastic activity localized: pelvis, femur, lumbar spine, base of skull Symptoms: Pain (boney, radiculopathic) Signs: high ALkaline Phosphatase normal calcium, serum phosphate, PTH Medication: bisphosphonates, calcitonin
  • Pseudogout Atiology: deposition of calcium pyrophosphate dihydrate crystals Diagnosis: positively birefringent crystals in aspirate → Gout, OA, septic arthritis, cellulitis; RA, seronegative arthritides  
  • Riedel's thyroiditis ??
  • Graves' disease ??
  • Hashimoto's thyroiditis ??

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