Internal medicine Flashcards
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Hereditary haemoglobinopathies
Defect in membrane:
- hereditary spherocytosis
- hereditary elliptocytosis
Defect in haemoglobin
- sickle cell disease
- thalassaemias
Defect in metabolism
- pyruvate kinase deficiency
- glucose-6-phosphate dehydrogenase
Beta- thlassaemia
Symptoms/diagnosis:
- minor: hypochromic, microcytic anaemia with normal red blood cell count, confirmed by serum electrophoresis (HbA2)
- major: congenital anaemia
Physiology:
- homozygote: major
- heterozygote: minor
- recessive autosomal inheritance pattern
- fault in beta chain–> microcytic red blood cell, haemolysis, removal by spleen
Management:
- minor: reassure, iron therapy not indicated usually, frolic acid 1mg / day enough to meet requirements for increased cell turn-over
- test partners in case of child wish, suggest to inform siblings
- major: life long transfusions and chelation therapy because of iron overload of transfusions. Markedly reduced live span, may need splenectomy
- major may need hormone replacement
- major may result in iron overload : hypothyroidism, hypocalcaemia, hypogonadism, DM
If both parents carrier (minor) change is 1/4 of major in a child, can be diagnosed with in utero sampling at 12-14 weeks. (and 1/2 for minor)
Note: alpha- thalassaemia major is not compatible with survival, results in feral hydrous and death-in-utero
inflammatory bowel disease, crohns vs UC and brief management
Crohns: - recurrent diarrhoea, +/- blood and mucus (less than in UC). - abdopain prominent - constittutional sympt - perianal disorder, mouth ulcers - skips area's in bowels includes small bowels. - colonoscopy: cobblestone appearance (granulomatous)
Ulcerative colitis:
- mainly western
- risk: family history, low-fibre
- recurrent diarrhoea including blood, mucus, pus
- less abdopain than crohn’s
- constitutional sympt less
- begins in rectum, normally does not spread beyond ileaocaecal valve
- increased risk carcinoma after 7-10 years
- granular red proctitis
Both normally can be managed with medication (immunesuppresents, corticosteroids, sulfasalazine, replace nutrients), surgery only for complications. crohn’s is less favourable than UC with medical and surgical treatment
Do stool cultures to exclude infection
Temporal artritis hix/prog
- may follow polymyalgia rheumatica in 20% of cases
- 50% has visiual imprairment at some stage (intermittend blurred vision)
- once completely blind ussually irriversible
- gradual onset worsening headaches one side, thight feeling muscles when chewing (claudicatio), constant, burning, neck pain
- tortoise tender temoral artery, pulsation harder to feel than opposite side
- related with hypertension
Temporal artritis management
- ESR + CPR + biopsy (may be neg as focal), MRI consider as very sensitive
- immediate strart with corticosteroids (60-100 mg in BD dosing), once ESR and clinical improved can reduce to 5-10mg TDS for 1-3 years.
- H2 receptor antagonist
- referral to surgeon for biospy and opthalmologist
- steroid complications: osteopenia, hypertension, DM, changed facies
- see back in 48 hrs
- go to ED if visual disturbance
7th nerve palsy examination
- all cranial nerves
- language
- peripheral neurology
- ear canals
- tympanic membrane
- parotid gland
causes of 7th nerve palsy
- Bells palsy
- CVA (ussually upper motor neuron forehead spared, associated with hemiparesis, although CVA in pons might lower motor neurone pattern (routes around 6th nerve in pons)
- cerebellopontine angle tumour (inclu hearing loss and other facial nerve palsies)
- vertebrobasilar insufficiency as cerebellopontine angle tumour
- Ramsay Hunt syndrome : herpes zoster infection affecting geniculate ganglion, look for vesicles external ear and palate, poor recovery, give aciclovir
- malignancy parotid gland (benign tumour do not give facial palsy)
- basal skull fracture or petrous bone fracture.
bilateral leg oedema causes:
- liver
- kidneys
- vena cava obstruction (eg tumour etc)
- DVT
- varicose veins
- right heart failure
bells palsy management + prognosis
- prednisolone 40-80 mg daily for 3 days than taper for 7 days or 40-80 mg daily for 5 days no taper
- consider antiviral, ussually not done as not on PBS and expensive
- patch over affected eye at night + artificial tears
- review in 2 days
- can offer CT head or referral to neurologist
- 70% recovers in 2 months first signs at 2 weeks, 20-25 % recovery in 6 months, 5-10 % no recovery in a year. the older the slower.
Causes heart failure:
- primary myocardial (ischaemic heart disease, cardiomyopathy)
- pressure overload (hypertension, aortic stenosis)
- volume overload (aortic regurgitation, mitral regurgitation, ventricular septum defect, high output states)
- obstruction ventricular filling (mitralis stenosis)
- restriction to ventricular filling (hypertrophic cardiomyopathy, constrictive pericarditis)
Diuretics and electrolytes
Spironolactone:
- aldosterone antagonist
- mild diuretic
- inhibit sodium absorption in distal tubulus –> hyponatraemia, hyperkalaemia
loop diuretics: (frusemide)
- Inhibit sodium and Cl absorption in Lis of Henle
- hyponatraemia, hypokalaemia, hypomagnesaemia
Thiazides:
- moderate potent
- inhibit reabsorption of Na and Cl in proximale segment distal tubule –> increase K excretion
- hyponatraemia and hypokalaemia,
ACE- Inhibitor (-pril)
- reduce effect of angiotensin-II induced vasoconstriction, Na retention, aldosterone release
- hyperkalaemia, hyponatraemia (but rare)
poly-myalgia rheumatica, DDx, exam, invx and managemant
middle aged or elderly, muscle pain, shoulders, neck, hip girdles, symmetric and often starts at shoulders, constitutional symptoms often (weight loss, malaise, depression, spiking fevers are rare)
exam: obs, all muscles and joints involved, ln, abdo, lungs, prostate, temporal artery (temp artritis can be at same time)
# invx: ESR and CRP (i would include TFT, Hb, CK at least too, and consider chest x-ray, FBE and auto-antibodies)
# DDx:
- chronic fatigue syndrome, mostly younger people, post infection, ESR, FBE CRP normal
- fibromyalgia : invx normal
- polymyositis: similar but CK autoantibodies raised, biopsy diagnostic
- underlying malignancy: prostate, breast, multiple myeloma, lung cancer
# Mng: steroids, start high, may be up to two years, don’t start until invx completed, come back if change of symptoms, especially headaches, visual disturbance, jaw claudicatio
Ddx hyper pigmentation
Haemochromatosis, Addison disease, Cushing, hyperthyroidism, cirrhosis, porphyria, CRF, malnutrition/malabsorption, drugs (like antibiotics and amiodarone)
Haemochromatosis symptoms and invx
- homozygous 1:150, carrier 1:10 M>F Male earlier detection as not menstruating
- bronze skin pigmentation, DM (60%), cardiomyopathy, liver damage, pituitary failure,
- fatigue, arthralgia, abdominal pain are leading symptoms that lead to detection
- AF, hepatomegaly, testicular atrophy, hyperglycaemia make support clinical diagnosis
- invx mininal: iron studies, Haemochromatosis gene tesing (HFE gen), ECG, FBE, EUC, LFT’s, ECG, Glucose
- Refer to specialist, may need ‘blood letting (venesection)’ or chelation therapy (rare), low iron diet
MCA CVA (= Middle cerebral artery)
CHANGE
- Contralateral motor + sensor involvement of face and limbs
- Homonymous hemianopia
- Aphasia (only if dominant hemisphere)
- Neglect and apractognosia if non-dominant hemisphere
- Gaze towards affected side
