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ALL YOU NEED TO KNOW ABOUT TREMORS! Bartłomiej Rosiński and Nidhi Reviewed by: Dr Kajal Aubeeluck Here’s what we do: ■ Weekly tutorials open to all! ■ Focussed on core presentations and teaching diagnostic technique If you’re new here… ■ Bstudentsl students, for medical ■ Reviewed by doctors to ensure W elcome to accuracy T eaching ■ We’ll keep you updated about our Things! upcoming events via email and groupchats! Parkinson’s and Neuro causes Tutor Name T ypes of tremor Rest ■ Resting – Tremor at rest Action ■ Postural – Holding a position against gravity ■ Intention ■ Task-specifichen a person makes an intended movement towards target – During goal-oriented tasks (writing or speaking) ■ Isometric – Voluntary muscle contraction that is not accompanied by movement (holding heavy object) https://www.ninds.nih.gov/health-information/disorders/tremor Causes of tremor Essential Tremor Functional tremor • Bilateral tremor with absence of other neuro signs • Can appear as any form of tremor • Most common and often familial • Sx can vary and start suddenly (often with stress) • Familial and inherited in 50-70% of cases • May increase with attention or disappear on distraction Dystonic tremor Enhanced physiologic tremor • Occurs in dystonia (too much stimulation) • Fine amplitude tremor in hands and fingers • Neck (cervical), vocal cords (laryngeal), limb • usually NOT neurological • Tremor relieved by relaxing or touching affected body • Drug reactions, EtOH withdrawal, hyperthyroidism, part hypoglycaemia Cerebellar tremor Orthostatic tremor • Slow, high amplitude tremor of hands/feet • Rare disorder • Worsens at end of movement • Rapid muscle contractions in legs when person stands • Due to stroke, tumour, injury or chronic damage due to • May not be visible to naked eye – touch calves/thighs EtOH use • Causes patient to feel unsteady https://www.ninds.nih.gov/health-information/disorders/tremorEssential tremor ■ 5% of population ■ Tendency increases with age, affects hands and arms predominantly ■ Worsens when arms are outstretched ■ Worsens with writing or other purposeful action ■ Usually symmetrical ■ Relieved by EtOH, exacerbated by anxiety, adrenergic stimulation, excitement ■ Mx – propranolol or primidone, DBS or botox injections can be added later A 63-year-old woman visits her GP with troubling hand tremors that worsen when she writes. She has a medical history of well-controlled diabetes and asthma, managed with inhaled budesonide and metformin. On examination,she has a normal gait and can quickly alternate her hands between pronation and supination, but tremors appear when her arms are outstretched. Additionally, her voice is soft and shaky, with rhythmic changes in loudness. What is the most likely diagnosis? a) Cerebellar syndrome b) Essential tremor c) Huntington’s disease d) Parkinson’s disease e) Physiologic tremor A 63-year-old woman visits her GP with troubling hand tremors that worsen when she writes. She has a medical history of well-controlled diabetes and asthma, managed with inhaled budesonide and metformin. On examination,she has a normal gait and can quickly alternate her hands between pronation and supination, but tremors appear when her arms are outstretched. Additionally, her voice is soft and shaky, with rhythmic changes in loudness. What is the most likely diagnosis? a) Cerebellar syndrome b) Essential tremor c) Huntington’s disease d) Parkinson’s disease e) Physiologic tremorParkinson’s disease ■ Common neurodegenerative cause of tremor – 1-2 per 1,000 ■ ‘pill rolling tremor’, unilateral – made worse by stress and emotions – Improves on initiation of movement ■ Three cardinal features – resting tremor, muscle rigidity, bradykinesia Risk F actors Environmental Genetic MTPT exposure GBA (6-8%) Metal alloys LRRK2 (1-2%) Vitamin D deficiency Parkin, PINK1, DJ1, VPS35, SNCA (<1%) Gut Microbiome Doctors, Teachers, vegetable farmers ● Smoking and coffee drinking protective (?) ● Genetic - many decrease mitophagy and/or lead to lysosome dysfunction Van Der Brug et al., 2015Lewy body pathophysiology ■ Core pathological hallmark – but not exclusive ■ Prion-like accumulation and propagation (?) ■ Dopamine stabilises alpha-synuclein oligomers (and increases toxicity in cell cultures) ■ Therefore, predominantly found in dopaminergic areas (SNc) ■ Synuclein found in enteric neurons and brain stem before cortex ■ Body vs Brain?Clinical Symptoms Early Motor Late Olfactory Impairment Bradykinesia Dementia (80% 20y post (90%) onset) Depression (50%) Resting tremor Visual Hallucinations Constipation Rigidity Postural instability REM sleep disorder Dysarthria Erectile dysfunction Falls Progression of disease (LB pathology) A 67 year old right-handed woman complains to her GP of stiffness in her right arm, difficulty doing her buttons, and worsening hand writing. Her husband adds that he always used to keep up with her, but now she is very slow when walking. On examination, there is stiffness of her right arm and leg, with normal tone in the left side. There is slowness and decrement of repetitive movements on the right. Finger-nose testing is normal on both sides. She walks with a slightly shuffling gait, and swings her right arm less than her left. Her symptoms are caused by degeneration in which area of the brain? a) NMJ b) Occipital cortex c) Cerebellar vermis d) Substantia nigra e) MCA A 67 year old right-handed woman complains to her GP of stiffness in her right arm, difficulty doing her buttons, and worsening hand writing. Her husband adds that he always used to keep up with her, but now she is very slow when walking. On examination, there is stiffness of her right arm and leg, with normal tone in the left side. There is slowness and decrement of repetitive movements on the right. Finger-nose testing is normal on both sides. She walks with a slightly shuffling gait, and swings her right arm less than her left. Her symptoms are caused by degeneration in which area of the brain? a) NMJ b) Occipital cortex c) Cerebellar vermis d) Substantia nigra e) MCABraak StagingDiagnosis ■ Diagnosis is clinical – History and neurological examination ■ UK Parkinson’s Disease Society Brain Bank Clinical Diagnostic Criteria – Bradykinesia plus AT LEAST one of the following ■ Muscle rigidity ■ Resting tremor (4-6Hz) ■ Postural instability – Consider alt diagnosis in cases of other neurological Hx/Sx – Supportive criteria ■ Unilateral onset ■ Resting tremor ■ Progressive ■ Excellent response to Levodopa/levodopa induced chorea ■ Levodopa response for greater than 5y ■ Clinical course longer than 10yDaTSCAN ■ Dopamine transporter scan (look at the ligands attached to DA-Rs) ■ DAT will normally sit at the end of axons ready to recycle DA into synaptic cleft at striatum ■ Use DAT as a proxy for DA cells that are left A 55-year-old woman is seen in the neurology clinic. Her posture is stooped and she moves with a slow, shuffling gait. She also freezes when approaching doorways or trying to turn around. Her face is expressionless and when she speaks her voice is quiet and lacks inflection. The consultant notes a new bilateral pill-rolling tremor in the hands that is exacerbated on distraction. Her past medical history is significant for schizophrenia and type 2 diabetes mellitus. What is the most likely diagnosis? a) Cerebellar lesion b) Drug-induced parkinsonism c) Alcohol induced tremor d) Idiopathic Parkinson’s disease e) Essential tremor A 55-year-old woman is seen in the neurology clinic. Her posture is stooped and she moves with a slow, shuffling gait. She also freezes when approaching doorways or trying to turn around. Her face is expressionless and when she speaks her voice is quiet and lacks inflection. The consultant notes a new bilateral pill-rolling tremor in the hands that is exacerbated on distraction. Her past medical history is significant for schizophrenia and type 2 diabetes mellitus. What is the most likely diagnosis? a) Cerebellar lesion b) Drug-induced parkinsonism c) Alcohol induced tremor d) Idiopathic Parkinson’s disease e) Essential tremor Levodopa is often given alongside T reatment carbidopa – dopa decarboxylase ■ Motor inhibitor – Levodopa first line (if motor sx affect QOL) – Dopamine agonists, Levodopa or MAO-Bis in motor sx that do not impact QOL – COMTis – adjunct to L-dopa for people who have motor fluctuations or dyskinesia – Amantadine if dyskinesia is not controlled with existing therapies ■ Non-motor – Daytime sleepiness - Modafinil – RLS, REM sleep disorder – clonazepam or melatonin – Orthostatic HTN – Midodrine or fludrocortisone – Dementia – rivastigmine (other AChEis available off-licence) – Drooling – Glycopyrronium bromide – Psychiatric – specialist advice In advanced cases, DBS may be used as a treatment T reatment side effects All treatments have a risk of psychotic ■ L-Dopa– impulse control disorders, excessive sleepiness disorders ■ DA-R agonists – pulmonary and cardiac fibrosis ■ Amantadine – ataxia, slurred speech, confusion, https://www.nice.org.uk/guidance/ng71/chapter/recommendations#pharmacological-management-of-motor-symptoms A 70-year-old woman presents to her GP with a 12-month history of worsening tremors. As she enters the room, the GP notes a shuffling gait. On examination, there is a resting tremor in her right arm which improves with movement. The tone is increased in the right arm and normal in the left arm. The patient has no significant past medical history. Given the likely diagnosis, what is the next step in her care? A) Dopamine active transporter scan (DaTscan) B) Levodopa C) Neurology referral D) Procyclidine E) rasagiline A 70-year-old woman presents to her GP with a 12-month history of worsening tremors. As she enters the room, the GP notes a shuffling gait. On examination, there is a resting tremor in her right arm which improves with movement. The tone is increased in the right arm and normal in the left arm. The patient has no significant past medical history. Given the likely diagnosis, what is the next step in her care? A) Dopamine active transporter scan (DaTscan) B) Levodopa C) Neurology referral D) Procyclidine E) rasagiline A 72-year-old man presents to the general practitioner with his wife. His wife is concerned as he is spending most of his pension on gambling, which is out of character for him. She says this has been since he started a new medication.He has a past medical history of Parkinson's disease. What medication is likely to have caused this change in his personality? A) Entacapone (COMT) B) Levodopa C) Procyclidine D) Rasagiline (MAOI) E) Ropinirole (DA-R agonist) A 72-year-old man presents to the general practitioner with his wife. His wife is concerned as he is spending most of his pension on gambling, which is out of character for him. She says this has been since he started a new medication.He has a past medical history of Parkinson's disease. What medication is likely to have caused this change in his personality? A) Entacapone (COMT) B) Levodopa C) Procyclidine D) Rasagiline (MAOI) E) Ropinirole (DA-R agonist)PD Plus syndromes ■ Often have a worse prognosis and response to Levodopa ■ Associated with additional symptoms ■ Corticobasal degeneration ■ Progressive supranuclear palsy ■ Multiple system atrophy ■ Lewy body dementiaCorticobasal Degeneration ■ Rapid decline ■ Immobility, dysphagia, cognitive decline, dysarthria, dystonia ■ Asymmetric – alien limb phenomenon (limb acts on it’s own) ■ Mx – Botulinum toxin – Clonazepam Caused by Tau inclusions – Donepezil/rivastigmine Does not respond to l-dopa Progresses more rapidly than PDProgressive supranuclear palsy ■ Parkinsonism and cognitive decline ■ Supranuclear palsy – Unable to hold up-gaze – Difficulty fixating on objects ■ Postural instability – Backwards falls – Broad-based and stiff gait ■ Poor L-dopa response ■ Hummingbird sign on MRI – Midbrain atrophy Ocular Sx can be managed with botox or eyelid crutchesMultiple system atrophy ■ Parkinsonism with additional autonomic dysfunction ■ Autonomic sx – Erectile dysfunction – Postural hypotension – Overflow incontinence (atonic bladder) ■ Cerebellar signs – Gait/limb ataxia – nystagmusLewy body dementia ■ Similar to PD ■ Dementia onset before motor sx – Initial inattention and loss of executive function ■ Visual hallucinations and REM sleep disorder ■ Mx – Donepazil – Memantine A 72 year old woman is referred to a neurologist via her GP, due to a tremor of her right hand. Examination reveals cogwheel rigidity of the tremulous hand, and a slow, shuffling gait. She is also unable to perform vertical gaze. Her neurologist suspects a Parkinsonian syndrome. Which one is the most likely diagnosis? a) Progressive supranuclear palsy b) Lewy body dementia c) Cortico-basal degeneration d) Parkinson’s disease e) Multiple system atrophy A 72 year old woman is referred to a neurologist via her GP, due to a tremor of her right hand. Examination reveals cogwheel rigidity of the tremulous hand, and a slow, shuffling gait. She is also unable to perform vertical gaze. Her neurologist suspects a Parkinsonian syndrome. Which one is the most likely diagnosis? a) Progressive supranuclear palsy b) Lewy body dementia c) Cortico-basal degeneration d) Parkinson’s disease e) Multiple system atrophyOther causes of Parkinsonism ■ Drug induced ■ Wilson’s disease – Excessive Cu – parkinsonism and psychiatric sx ■ Dementia Pugilistica – Repetive trauma to head -> Parkinsonism with declining cognitive functionTremors Nidhi RegeHow do you feel about this topic? 1 - Know nothing 2 - Know bits and bobs 3 - Kind of confident 4 - Very confident 5 - I can teach this myself !SBA 1 A 28-year-old woman presents to her GP with weight loss, palpitations, and sweating. On examination, she has a fine tremor, tachycardia (HR 110 bpm), and warm, moist skin. Her eyes appear prominent, but she denies eye pain or diplopia. What is the most likely diagnosis? Options: A) Graves’ disease B) Anxiety disorder C) Pheochromocytoma D) Hyperthyroidism due to toxic multinodular goitre E) Side effects of salbutamol overuseSBA 1 A 28-year-old woman presents to her GP with weight loss, palpitations, and sweating. On examination, she has a fine tremor, tachycardia (HR 110 bpm), and warm, moist skin. Her eyes appear prominent, but she denies eye pain or diplopia. What is the most likely diagnosis? Options: A) Graves’ disease B) Anxiety disorder - would not cause weight loss, warm skin, or exophthalmos C) Pheochromocytoma - would not cause a persistent tremor or eye signs D) Hyperthyroidism due to toxic multinodular goitre -More common in older patients, usually with a nodular thyroid on exam E) Side effects of salbutamol overuse - would not cause weight loss or eye signs.SBA 1 A 28-year-old woman presents to her GP with weight loss, palpitations, and sweating. On examination, she has a fine tremor, tachycardia (HR 110 bpm), and warm, moist skin. Her eyes appear prominent, but she denies eye pain or diplopia. What is the most likely diagnosis? Options: A) Graves’ disease This question is testing B) Anxiety disorder hyperthyroidism and its most common types C) Pheochromocytoma D) Hyperthyroidism due to toxic multinodular goitre E) Side effects of salbutamol overuseHyperthyroidism - Fairly common presentation - Affects 2-5% of all women at one point in their life - Sex Ratio 5:1 F:M - Most often occurs between the ages of 20 and 40 years - The most common types are: - Grave’s Disease - Toxic Multinodular Goitre - Solitary Toxic Nodule/ AdenomaGrave’s Disease Most Common Cause of Hyperthyroidism Autoimmune Process Serum IgG Stimulates Thyroid antibodies bind to These Antibodies Hormone TSH receptors behave like TSH Production These antibodies TSHR-Ab are specific for Grave’s DiseaseGrave’s Disease Other Clinical eatures Thyroid Eye DiseaseInvestigations - Biochemical Information is required to confirm diagnosis Free T4/T3: HIGH - confirms diagnosis Serum TSH: LOW(unless TSH-oma,) TSHR-Ab: routinely done to screen for Grave’s Thyroid Peroxidase (TPO) and thyroglobulin antibodies:present in 80% of people with Graves’ and found in normal Scintiscan 99 Tm : used in patients who are antibody negative for Toxic Nodular DiseaseManagement In Primary Care: Propranolol for the adrenergic effects IF SX NOT CONTROLLED BY PROPANOLOL REFER TO SECONDARY CARERadioactive Iodine First line as better long term outcomes and more cost effective Patients must be rendered euthyroid before treatment. They should stop anti-thyroid drugs at least 4 days before radio-iodine, and not commence until 3 days after radio-iodine . ContraIndications Pregnancy Wanting to conceive within 4-6 months Patients can become Thyroid Eye Disease hypothyroid after treatment, Concerns about replacement treatment malignancy or compressionAnti-thyroid Drugs (A TD) Carbimazole, used if radioactive iodine not suitable or working PTU not first line as hepatic impairment ATD used until euthyroid, after which there are two regimes: 40mg and Gradually Reduce Block and Replace Review at 4-8 weeks - reduce to 5-15mg if T4 low 40mg Carbimazole, add Levothyroxine onceeuthyroid If patient euthyroid on 5mg OD , STOP treatment Lasts 18 months Usually takes 12-18 months More side effects, CI in pregnancyCarbimazole Counselling The most important side effect is agranulocytosis You must warn patients to seek immediate medical attention (GP/A+E) and check WBCC if - Unexplained fever or sore throat or mouth ulcers Patients must stop taking tablets until the count has been returned as normal! Sore throat, and mouth ulcers and common, but it’s better to be safe than sorry!Surgery - Thyroidectomy If concerns about compression or malignancy Only performed in patients who have been made euthyroid Key complications Patients become hypothyroid after treatment, replacement Laryngeal Nerve Palsy Transient hypocalcaemia SBAs will describe sx of hypocalcaemia with a history of Bleeding Risk recent thyroid surgery! InfectionsDisease Course and Associations Many patients show a pattern of alternating relapse and remission Many patients eventually become hypothyroid As its an autoimmune condition, you also want to screen for other autoimmune disorders such as: - Pernicious anaemia - Vitiligo - Myasthenia GravisCredits to Kumar and Clark's Clinical Medicine Differential dx Grave’s Disease Solitary/Multinodular Thyroiditis Thyrotoxicosis History Symptoms Symptoms Symptoms + Recent Viral Infection/Delivery Painful Neck Swelling Clinical Exam Signs of thyrotoxicosis Signs of thyrotoxicosis Signs of thyrotoxicosis Diffuse Goitre Palpable solitary nodule or Diffuse Goitre Extrathyroidal manifestations multinodular goitre Tender on palpation like Thyroid Eye DiseaseSBA 2 A 39 year old man presents to the emergency department with a two day history of headache, tremors and palpitations. He reports similar symptoms over recent weeks which he had attributed to stress, but this episode was the particularly severe prompting a visit to A&E. On examination, he has a blood pressure of 190/108 mmHg and a heart rate of 110 bpm. Otherwise, he is afebrile with and unremarkable systemic examination. ECG shows sinus tachycardia. CT scan of the abdomen shows a 5cm hyper-enhancing mass adjacent to the right adrenal gland. Which of the following investigations is best for diagnosis of this condition? 1. Urinary 5-HIAAA 2. Urine metanephrines 3. Urine free cortisol 4. Serum Aldosterone 5. Short ACTH stimulation (Synacthen test)SBA 2 A 39 year old man presents to the emergency department with a two day history of headache, tremors and palpitations. He reports similar symptoms over recent weeks which he had attributed to stress, but this episode was the particularly severe prompting a visit to A&E. On examination, he has a blood pressure of 190/108 mmHg and a heart rate of 110 bpm. Otherwise, he is afebrile with and unremarkable systemic examination. ECG shows sinus tachycardia. CT scan of the abdomen shows a 5cm hyper-enhancing mass adjacent to the right adrenal gland. Which of the following investigations is best for diagnosis of this condition? 1. Urinary 5-HIAAA - diagnostic test for carcinoid syndrome 2. Urine metanephrines 3. Urine free cortisol - diagnostic test for Cushing’s 4. Serum Aldosterone - diagnostic test for Conn’s (hypoadolsteronism) 5. Short ACTH stimulation (Synacthen test) - diagnostic for Addison’sWhat is a pheochromocytoma? A very rare tumour of the sympathetic nervous system that occurs in the adrenal gland These tumours secrete catecholamines, noradrenalines, adrenaline and their metabolites Some are associated with MEN2, von Hippel- Lindau, and neurofibromatosis Tumours occurring elsewhere in the sympathetic chains are called paragangliomasSymptoms and Signs? Symptoms Signs • Anxiety or panic attacks • Palpitations • Hypertension • Tremor • Sweating •Tachycardia/arrhythmias • Bradycardia • Headache • Orthostatic hypotension • Flushing • Nausea and/or vomiting • Pallor or flushing • Weight loss • Glycosuria • Constipation or diarrhoea • Raynaud’s phenomenon • Fever • Chest pain • (Signs of hypertensive • Polyuria/nocturia damage)Investigations - Measurement of urinary catecholamines and metabolites - Includes metanephrines - most sensitive and specific - Normal levels on three 24 hour collections virtually exclude - Drugs such as tricyclic antidepressants and dietary vanilla interfere - Resting plasma metanephrines are raised - Plasma chromogranin A raised - CT/MRI scans (initially of abdomen) to localise tumours - Scanning using MIBG - Genetic Testing for MEN2, VHL, SDHB, SDHDCredits to Kumar and Clarks Left-sided MIBG scan showing a solitary area of phaechromocytoma increased uptake in the liver consistent with metastasis from a phaeochromocytoma.Management Surgical removal Medical pre-operative and perioperative treatment includes complete alpha-blockade and beta-blockade Alpha blockade: phenoxybenzamine Beta blockade: propranolol ALPHA BEFORE BETA ALWAYS (or else hypertension worsened) IV fluids to expand plasma volume Patients followed up annuallySBA 3 A 28 year old man is brought to A&E after collapsing outside. He is very drowsy and is only mumbling sounds. His initial assessment is as follows: A - Patent airway B - Good air entry bilaterally. Nil crackles or wheeze. Saturating 98% on air C - Heart sounds normal. Nil murmurs. Slightly dry. IV access obtained and fluids started. Heart rate 64, Blood pressure 110/68. D - GCS 9, Blood glucose 2.0. E - Nil rashes. Needle marks on abdomen and fingers He has a medic alert bracelet which says that he is on insulin. Which of the following is the most appropriate initial treatment? A) IM Glucagon 1mg B) 50ml of IV Dextrose 50% C) 100ml of IV Dextrose 20% D) Oral Glucogel E) Naloxone Nasal SpraySBA 3 A 28 year old man is brought to A&E after collapsing outside. He is very drowsy, shaky and is only mumbling sounds. His initial assessment is as follows: A - Patent airway B - Good air entry bilaterally. Nil crackles or wheeze. Saturating 98% on air C - Heart sounds normal. Nil murmurs. Slightly dry. IV access obtained and fluids started. Heart rate 64, Blood pressure 110/68. D - GCS 9, Blood glucose 2.0. E - Nil rashes. Needle marks on abdomen and fingers He has a medic alert bracelet which says that he is on insulin. Which of the following is the most appropriate initial treatment? A) IM Glucagon 1mg - only used if no IV access B) 50ml of IV Dextrose 50% - too concentrated, can cause thrombophlebitis and extravasation injuries C) 100ml of IV Dextrose 20% D) Oral Glucogel - the low GCS and drowsiness means that risk of aspiration is high E) Naloxone Nasal Spray - recreational drug use less likelyDEFG EVERt Glucose !Causes of Hypoglycaemia Insulinoma Drug Sulphonylureas Liver and Kidney Endocrine Insulin Acute Liver Failure Hypopituitarianism Quinine End-stage Kidney Isolated ACTH Salicyclates Failure deficiency Propanolol Addisons Pentamidine Alcohol How to Differentiate? Insulin Level C - Peptide Level Interpretation Potential Causes HIGH HIGH Endogenous insulin Insulinoma, Sulfonylurea production use/abuse HIGH LOW Exogenous insulin Exogenous insulin overdose administration Factitious Disorder LOW LOW Non-insulin related cause Alcohol, Sepsis, Addisons, GH deficiency, FastingManagement Community Hospital Oral Glucose 10-20g (liquid/gel/tablet) Alert: Quick Acting Carb OR OR Unconscious/ Can’t Swallow: Quick-acting Carbohydrate IM/SC Glucagon OR OR IM/SC Glucagon IV Access: IV 20% GlucoseSBA 4 A 46-year old gentleman attends the Emergency Department complaining of a 6-month history of worsening tremor in his both hands and increased clumsiness. His partner also notes that he has been short-tempered and more forgetful recently as well. On examination, he has a postural tremor affecting both upper limbs, but otherwise the examination is unremarkable. Routine bloods show deranged liver function tests. Which of the following blood tests is most likely to lead to the diagnosis? 1. Anti smooth muscle antibodies 2. Anti mitochondrial antibodies 3. Alpha fetoprotein 4. Caeruloplasmin 5. Transferrin saturationSBA 4 A 46-year old gentleman attends the Emergency Department complaining of a 6-month history of worsening tremor in his both hands and increased clumsiness. His partner also notes that he has been short-tempered and more forgetful recently as well. On examination, he has a postural tremor affecting both upper limbs, but otherwise the examination is unremarkable. Routine bloods show deranged liver function tests. Which of the following blood tests is most likely to lead to the diagnosis? 1. Anti smooth muscle antibodies - this is used for autoimmune hepatitis type 1 2. Anti mitochondrial antibodies - this is used for Primary Biliary Cirrhosis 3. Alpha fetoprotein - this is used for Hepatocellular Carcinoma and testicular cancer 4. Caeruloplasmin 5. Transferrin saturation - this is used for haemochromatosisWilson’s Disease Autosomal Recessive Disease where there is an error in copper metabolism Deposition of copper in the various organs, including the liver, the basal ganglia of the brain and the cornea Children Hepatic Symptoms Adults dominant Tremor Kayser- Damage dysarthria, Fleischer Inflammation involuntary movements Rings are Cirrhosis dementia specific FailureKayser- Fleischer Rings (A) [Credits to Shrag, Schott, New England Journal of Medicine]Investigations Serum copper and caeruloplasmin reduced Serum Urinary Copper increased Liver Biopsy May see Haemolysis and AnaemiaManagement Copper Chelating therapy with lifetime penicillamine SE: skin rashes, leucopenia, and renal damage Maintenance Therapy with Trientine and Zinc Acetate Diet low in copper is advisedKayser- Fleischer Rings (A) [Credits to Shrag, Schott, New England Journal of Medicine]Delirium T remens Delirium tremens (DTs) is the most serious alcohol withdrawal state and occurs 1–3 days after alcohol cessation, so is commonly seen 1–2 days after admission to hospital. Patients are disorientated and agitated and have a marked tremor and visual hallucinations (e.g. insects or small animals). Signs include sweating, tachycardia, tachypnoea and pyrexia. Wernicke–Korsakoff’s syndrometion, infection, hepatic disease or the Management involves: Chlordiazepoxide or Lorazepam if Liver CirrhosisWhen thinking about causes…. Think multi-system ● V: vascular ● I: infective Or MIDNIT (if ● T: traumatic you’re a House fan) ● A: autoimmune ● Metabolic ● M: metabolic ● I: iatrogenic ● Inflammation ● N: neoplastic ● Degenerative ● C: congenital ● Neoplastic ● D: degenerative ● E: endocrine ● Infection ● F: functional ● Trauma THANKS FOR WATCHING! Please fill out the feedback form on Medall and see you next week!