Short Cases (Endo and some rheum) Flashcards
What is this sign? Spot diagnosis?
Prognathism - protrusion of lower jaw - acromegaly
What would you call this? what is it a sign of?
Increased interdental separation - acromegaly
What is this sign? What disease is it associated with?
Pronounced supraorbital ridges - acromegaly
The left hand is normal, the right hand is of the affected patient - what is this called and what disease is it associated with?
Increased soft tissue swelling of the hands - acromegaly
What might be found on visual field testing in someone with acromegaly?
bitemporal hemianopia due to optic chiasm compression by a pituitary adenoma
Patient on examination has:
* Ridge of the jawline is enlarged
* Macroglossia
* Prognathism
* Pronounced supraorbital ridges, lips and nose.
* Increased interdental separation
* Hands feel sweaty
Diagnosis? How would you investigate this patient?
Acromegaly
Bedside
* full history
* Cardio exam - cardiomyopathy
* Hand exam - carpal tunnel
* Cranial nerve exam - There can be signs of raised ICP - raised ICP and bitemporal hemianopia , Cushing reflex - hypertension and bradycardia , Sixth nerve palsy
* Urine dipstick - glucose
* Capillary blood glucose - diabetes
* Pregnancy test (if female), you may also want to do a hormone profile to rule out other pathology
Bloods
* Serum IGF1 is screening test and first line.
* Diagnostic test for acromegaly is glucose tolerance test.
* FBC, U&Es, LFTs, Bone profile (osteoarthritis) (Calcium is useful to screen for MEN1. MEN1 is associated with pituitary tumour and parathyroid tumour.)
* Pituitary hormones and their function included ACTH, PTH, Prolactin, TFTs, LH
* BNP if cardiomyopathy/heart failure
Imaging
MRI brain is helpful to see a pituitary adenoma
CT thorax to look for ectopic source of groth hormone
Echo to see cardiomyopathy
Patient on examination has:
* Ridge of the jawline is enlarged
* Macroglossia
* Prognathism
* Pronounced supraorbital ridges, lips and nose.
* Increased interdental separation
* Hands feel sweaty
How could you manage this patient?
PMDT APPROACH - GP, Secondary care, diabetes nurses, endocrinologist
Conservative
* Patient education
* Lifestyle advice
* Diet and exercise advice (due to potential underlying diabetes)
Medical
* Somatostatin analogue e.g. octreotide
* Pegvisomant
- GH receptor antagonist - prevents dimerization of the GH receptor
- once daily s/c administration
- very effective - decreases IGF-1 levels in 90% of patients to normal
* Dopamine agonists
* Manage any comorbidities
- CPAP for sleep apnoea
- Oral antihypoglycaemic agents
Surgical
* trans-sphenoidal hypophysectomy
Your patient is the last photo from 2006, they show you their previous photos, what is the diagnosis?
Acromegaly
Why might this patient have glycosuria and galactorrhoea?
The over production of growth hormone cause insulin resistance by reducing the ability of insulin to stimulate glucose upatake by muscle and fat cells and by stimulating the liver to produce more glucose.
The pituitary adenoma causes pituitary stalk compression leading to increased prolactin production causing galactorrhoea
Patient has:
* Ridge of the jawline is enlarged
* Macroglossia
* Prognathism
* Pronounced supraorbital ridges, lips and nose.
* Increased interdental separation
* Hands feel sweaty
What other signs/symptoms may be associated with this patients condition?
- Prolactin levels tend to go up with acromegaly leading to galactorrhoea
- Also free oestrogen goes up as the sex hormone binding globulin goes down. Causes gynacomastia
- Muscles + joints: Proximal myopathy, arthralgia, Carpal tunnel syndrome, Osteoarthritis.
- Liver and heart - cardiomyopathy.
- Gut - Association with colonic polyps and colonic cancer.
- Sex organs - Oligomenorrhoea (if female), small testis
- Skin - Acanthosis nigricans
What are these signs? Spot diagnosis?
From Top left -> right
Exopthalmos, Goitre, Thyroid acropachy, Pretibial myoxoedema
What other signs might you expect in this patient?
Think of a way to structure the answer
Hands
* tremor
* Increased sweating
* Thyroid acropachy
* Irregular Irregular Pulse
Eyes
* Exopthalmos
* Opthalmoplegia
* Lid lag
Neck
* Goitre
Legs
* Pretibial myoxoedma
* Muscle wasting
NOSPECS
Eye signs in graves disease in the order of which they present
- None
- Only lid retraction (staring)
- Soft tissue involvement (swelling of eyelid)
- Proptosis (exophthalmos)
- Extra ocular involvement (restricted eyeball mobility, diplopia)
- Corneal involvement (keratitis, ulcer)
- Sight loss. (optic nerve involvement)
Patient presents with:
* Feeling hot all the time
* Irritability and anxiety
* Smooth goitre
* Weight loss
* Tremor
* Palpitations
* Sweating.
Diagnosis? how will you Investigate?
Hyperthyroidism/Graves
Bedside:
* Thyroid examination
* Percuss behind sternum, if dull check for pembertons sign.
* Cardiovascular exam
* Look the legs
* Standing up from chair with arms cross
Bloods
* Thyroid function tests - TSH, T3/4,
* TPO antibodies
* Thyroid receptor Abs - specific for graves and can be used to diagnose
Imaging
* Radioactive uptake scans - can be done but no needed and shouldnt be ordered when the patient is thyrotoxic
* USS - rarely needed.
Management of graves
MDT APPROACH PT, OT, Social worker, patient education, GP, specialist follow up.
**Initial treatment **
Patient education
propranolol is used to help block the adrenergic effects
Referral to secondary care for ongoing treatment.
Mainstay of treatment:
* carbimazole is started at 40mg and reduced gradually to maintain euthyroidism
typically continued for 12-18 months
* Alternative regime is termed ‘block-and-replace’
carbimazole is started at 40mg and thyroxine is added when the patient is euthyroid
Radioiodine treatment
often used in patients who relapse following ATD therapy or are resistant to primary ATD treatment
What disease is carbimazole used to treat and what are some important side effects?
Hyperthyroidism/Graves
SEs of Carbimazole
* Rash 1/200
* Agranulocytosis 1/2000
* Warn patients of fever to come to A and E immediately
* Neutropenic fever is a huge problem
* Hepatitis
What are these signs and what is the diagnosis?
Limited cutaneous systemic sclerosis is associated with mild skin involvement distal to the elbows and knees, with or without face and neck involvement, and sparing of the chest and abdomen. (A) Perioral soft tissue loss. (B) Sclerodactyly. (C) Facial telangiectasis. (D) Dilated nailfold capillaries. (E) Extensive calcinosis cutis.
What are these signs? Diagnosis?
(A) Severe skin involvement in diffuse cutaneous systemic sclerosis has an effect on facial appearance. (B) Hand function is affected in these patients and is often associated with severe digital ulcers and ulceration over areas of pressure or trauma. (C) Atrophic changes of late-stage diffuse skin involvement with prominent hair regrowth. (D) Typical blanching of indurated thickened, hairless skin over the length of the limbs is shown in a patient with early diffuse systemic sclerosis and anti-RNA polymerase antibody positivity. (E) Atrophic changes of the hands in late-stage diffuse skin involvement.
What are the causes of acromegaly
Growth hormone secreting pituitary adenoma (95%)
(can be part of Men1)
Ectopic growth hormone secretion due to a carcinoid tumour
6Ms
What are some causes of proximal myopathy?
Muscular Dystrophy
Myotonic Dystrophy
Metabolic/endocrine (cushings, diabetic amotrophy, hyperthyroidism)
Medications - steroids, alcohol
Malignancy - Lambert eaton
PolyMyositis, DermatoMyositis
What are some causes of neck swelling?
Thyroglossal cyst
Brachial cyst
Thyroid swelling (graves, thyroiditis)
Lymphadenopathy
Vascular (carotid artery aneurysm)
Parotid swelling (mumps)
Salivary gland tumours and sialadenitis
Other beingn and malignant tumours (schwannoma, neurofibromatosis)
FPALM
Types of thyroid cancers
Follicular, Papillary, Anaplastic, Lymphoma, Medullary
What are the classic presenting symptoms of hypothyroidism?
- Weight gain
- thin hair, brittle nails
- Tiredness
- Feels cold all the time
- Low mood
- Constipation
- Menstrual changes
What are the classic presenting symptoms of hypothyroidism?
- Weight gain
- thin hair, brittle nails
- Tiredness
- Feels cold all the time
- Low mood
What to look for on examination in a patient with hypothyroidsim
Hands
* cold hands
* bradycardic pulse
* Brittle nails
* Oedema of hands (and face)
Face
* thyroid scar - previous thyroid surgery
* Conjunctival pallor
* Dry, yellow skins
* coarse scalp hair, loss of lateral aspect of eyebrows
Limbs
* reduced tendon reflexes
Causes of hypothyroidism?
- Hashimoto’s thyroiditis, most common cause UK, autoimmune disease, associated with IDDM, Addison’s or pernicious anaemia
may cause transient thyrotoxicosis in the acute phase
5-10 times more common in women - Subacute thyroiditis (de Quervain’s)
- Riedel thyroiditis
- After thyroidectomy or radioiodine treatment
- Drug therapy (e.g. lithium, amiodarone or anti-thyroid drugs such as carbimazole)
- Dietary iodine deficiency - most common worldwide
Signs of Myxodema coma?
Confusion, psychosis, seizures, coma, Hypothermia, bradycardia
Patient presents with:
* Weight gain
* thin hair, brittle nails
* Tiredness
* Feels cold all the time
* Low mood
* Constipation
* Menstrual changes
How to differentials?
- Anaemia
- Autoimmune disease
- Hypothyroidism
- Depression/anxiety
- Diabetes
- Sleep apnoea
- CKD
- Chronic infections
- Adrenal insufficiency
- Vitamin deficiency - iron, vitamin D, B12
- Cancer
Patient presents with:
* Weight gain
* thin hair, brittle nails
* Tiredness
* Feels cold all the time
* Low mood
* Constipation
* Menstrual changes
How would you investigate?
Presumed hypothyroidism
Bedside
Ask about menstrual symptoms
Thyroid examination
Cardiac and resp examination - bradycardia
Examine the joints, legs and muscles looking for inflammatory conditions.
Capillary blood glucose
Bloods
* TFTs
* Thyroglobulin, increased in 80-90% of autoimmune cases
* TPO antibodies
* FBC - high MCV, check for anaemia
* U&Es, LFTs - check for electrolye abnormalities, CKD and for hepatides.
* Adrenal panel (short synacthen test to exclude addisons as hypothyroidism protects them from addisonian crises.
* Prolactin May be raised
* CK and LDH - may be raised
* Sodium - may be low
* Cholesterol - High
Imagine
* Consider USS thyroid if nodule or lump
Patient presents with:
* Weight gain
* thin hair, brittle nails
* Tiredness
* Feels cold all the time
* Low mood
* Constipation
* Menstrual changes
Investigations: Raised TSH, Low T3/T4, TPO AB raised.
How will you manage this patient?
MDT approach PT, OT, SW, Patient education, psychosocial interventions, GP and specialist
* Mainstay is treating with levothyroxine
* Advise patient to take iron and calcium supplements 2-4 hours separate from their thyroxine as this can impact its absoption.
Patient presents with:
* Weight gain
* thin hair, brittle nails
* Tiredness
* Feels cold all the time
* Low mood
* Constipation
* Menstrual changes
Investigations: Raised TSH, Low T3/T4, TPO AB raised.
How will you manage this patient?
MDT approach PT, OT, SW, Patient education, psychosocial interventions, GP and specialist
* Mainstay is treating with levothyroxine
* Advise patient to take iron and calcium supplements 2-4 hours separate from their thyroxine as this can impact its absoption.
Side effects of thyroxine treatment?
- over treatment
- reduced bone mineral density
- worsening of angina
- atrial fibrillation
What can be seen on fundoscopy
Background retinopathy. Microaneurysms with dot and blot haemorrhages.
What can be seen on fundoscopy?
Pre-proliferative retinopathy: cotton wool spots, hard exudates and dot blot haemorrhages.
What can be seen on fundoscopy?
Diabetic background retinopathy (microaneurysms, hard exudates)
theres also some silver wiring suggesting hypertensive disease
What can be seen on fundoscopy?
Proliferative diabetic retinopathy (new vessel formation and haemorrhaging)
What can be seen on fundoscopy?
Proliferative diabetic retinopathy - Neovascularisation and haemorrhages
