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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_1093_Библиотеки_им_академика_М_И_Перельмана.pdf
ESSENTIAL NOTES FOR MEDICAL AND SURGICAL FINALS
metyrapone +/– ketoconazole to control cortisol production. If necessary, both
adrenals can be removed but beware Nelson’s syndrome (uncontrolled growth of
Cushing’s disease tumour causing hyperpigmentation). Adrenal Cushing’s is treated
with surgery to remove tumour.
Conn’s syndrome
Excess aldosterone – normally due to an adrenal adenoma (>75%) and less
commonly, due to bilateral adrenal hyperplasia. Clinical features: hypertension and
hypokalaemia (which causes muscle weakness and cramps, polyuria and polydipsia)
and metabolic alkalosis.
MANAGEMENT
● Confirm diagnosis: plasma aldosterone (high) and renin (usually low).
● Establish cause: CT abdomen (occasionally adrenal venous sampling is required
if tumour not seen on imaging).
If adenoma confirmed, surgical excision. If bilateral adrenal hyperplasia,
●
aldosterone receptor blockers (e.g. spironolactone) + other antihypertensives.
Adrenal failure
Primary adrenal failure (Addison’s disease) is most often due to autoimmune
adrenalitis (>70%). Rare causes include TB and CMV. Secondary failure is due to
failure of ACTH production by the pituitary, either due to hypopituitarism or due
to steroid suppression of the hypothalamic pituitary axis (HPA).
CLINICAL FEATURES Often non-specific: lethargy, loss of appetite, weakness, weight
loss. Other symptoms include abdominal pain and hyperpigmentation (particularly
of oral mucosa). Biochemically there is low Na
+
, high K+ (in primary).
DIAGNOSIS Short Synacthen test – demonstrates failure of plasma cortisol response
to ACTH injection.
MANAGEMENT
● Lifelong steroid replacement with hydrocortisone and fl udrocortisone is
necessary (remember to give patient a steroid card and advice about increasing
dose during illness).
Occasionally, patients may present acutely with an Addisonian crisis (e.g.
●
after haemorrhage or rapid withdrawal of longstanding steroid therapy) with
hypovolaemia and hypotension. Treat with intravenous fluids and steroids.
Phaeochromocytoma and paragangliomas
A phaeochromocytoma is an adrenal medulla tumour. A paraganglioma is a tumour
arising from the sympathetic and parasympathetic ganglia. ≈ 25% occur due to
mutations in the VHL, NF1, c-Ret, SDH-B, -C, -D genes and are associated with
familial phaeo/paraganglioma syndromes. Clinical features: classical symptoms
are headache, sweating and palpitations, which may be paroxysmal, occurring in
attacks lasting minutes to hours; and hypertension which may be persistent rather
than episodic.
DIAGNOSIS Raised urinary and plasma catecholamines or metanephrines.
MANAGEMENT
● Locate tumour: CT/MRI abdomen +/– MIBG scanning (may be useful to
identify small tumours and particularly metastases).
84
ENDOCRINOLOGY AND METABOLISM
● Treatment: initially alpha-blocker (e.g. phenoxybenzamine) and β-blocker (e.g.
propranolol) are given to control hypertension. Followed by surgery to remove
tumour.
Consider genetic screening especially if family history or patient young (<40
●
years).
6.5. Parathyroid disease and calcium metabolism
Low calcium stimulates parathyroid hormone (PTH) release from the parathyroid
gland. PTH causes reabsorption of calcium from bone and kidney, and stimulates
hydroxylation of vitamin D to its active form (which in turn increases GI calcium
reabsorption).
Hyperparathyroidism
● Primary – causes: adenoma or more rarely hyperplasia of the glands. Treatment
is with parathyroidectomy.
Secondary – caused in response to hypocalcaemia (see below).
●
Tertiary – in longstanding secondary hyperparathyroidism PTH production
●
becomes autonomous. Treatment is with parathyroidectomy.
Hypercalcaemia
Causes:
❍
Primary (and tertiary) hyperparathyroidism
❍
Myeloma
❍
Malignancy
❍
Sarcoidosis
The classic mnemonic for clinical features is ‘bones, stones, groans and psychic
moans’, i.e. bone pain, renal stones, abdominal pain (with vomiting and constipation)
and depression. Management: patients need to be rehydrated and the underlying cause
treated. If necessary, intravenous bisphosphonates can be given.
Hypoparathyroidism
Most commonly follows thyroid or parathyroid surgery. Can be autoimmune.
Pseudohypoparathyroidism
PTH resistance due to abnormal PTH receptor. Clinical features: short, round face,
short metacarpals, learning diffi culties.
Pseudopseudohypoparathyroidism
Same clinical features as for pseudo hypo para thyroidism but biochemistry is
normal.
Hypocalcaemia
Causes:
❍
Chronic renal failure
❍
Hypoparathyroidism
❍
Vitamin D deficiency
Symptoms (if any) are mainly neurological (tetany, seizures) or psychiatric. Eponymous
signs:
❍
Chvostek’s sign – twitching of the facial muscles on tapping over the facial nerve
❍
Trousseau’s sign – spasm of the hand and thumb following occlusion of the blood
flow to the upper arm with a blood pressure cuff inflated to 10 mmHg above
systolic BP for up to three minutes
85
ESSENTIAL NOTES FOR MEDICAL AND SURGICAL FINALS
Treatment: Oral calcium (IV if severe or symptomatic) combined with vitamin D in most
circumstances.
Osteomalacia
Usually due to vitamin D deficiency, e.g. secondary to poor diet, GI disorders such
as malabsorption, lack of sun exposure. Symptoms are bone and muscle pain,
proximal myopathy and subclinical fractures. In childhood, vitamin D defi ciency
causes rickets with skeletal deformities, e.g. bowed legs. Treat underlying disorder
and give vitamin D.
Paget’s disease
❍
Disease of abnormal bone turnover
❍
Often asymptomatic and diagnosed from an isolated raised ALP
❍
Clinical features if symptomatic: bone pain, overgrowth of bone leading to
compressive neuropathies, e.g. VIII cranial nerve and deafness, deformities
❍
Management: does not require treatment unless symptomatic
CALCIUM PHOSPHATE
Primary hyperparathyroidism + –
Secondary hyperparathyroidism – +
Tertiary hyperparathyroidism + – or +
Hypoparathyroidism – +
Osteomalacia Normal or – Normal or –
Osteoporosis Normal Normal
+ = raised, – = lowered
6.6. Multiple endocrine neoplasia (MEN)
Autosomal dominant syndromes associated with various tumours of the endocrine
system.
MEN I: mutations in menin
● Parathyroid hyperplasia or adenoma – often the first diagnosed with
hypercalcaemia.
Pituitary – usually prolactinoma, more rarely secrete GH or ACTH.
●
● Pancreas – insulinoma or gastrinoma.
MEN IIA: mutations in c-Ret
● Medullary carcinoma of the thyroid.
● Phaeochromocytomas – usually multiple.
● Parathyroid hyperplasia or adenoma.
MEN IIB: mutations in c-Ret
● Medullary carcinoma of the thyroid.
● Marfanoid appearance.
● Mucosal ganglioneuromas around mouth + in intestine (can cause
obstruction).
Phaeochromocytomas.
●
● Parathyroid hyperplasia rare.
86
ENDOCRINOLOGY AND METABOLISM
6.7. Lipid disorders
● Raised LDL cholesterol is associated with vascular disease (although HDL
cholesterol is protective).
Raised triglycerides also increase vascular risk.
●
Primary hyperlipidaemias
Include familial hypercholesterolaemia where there is LDL receptor dysfunction
leading to raised LDL (and total) cholesterol. Clinical features: myocardial infarctions
occur at young age; tendon xanthomas and xanthelasma may be present.
Secondary hyperlipidaemia
Causes include alcohol, chronic liver disease and chronic renal failure.
Drugs that lower lipid levels
❍
Statins (e.g. simvastatin, atorvastatin) are HMG-CoA reductase inhibitors and inhibit
liver synthesis of cholesterol. Side effects: myositis (rare)
❍
Fibrates (e.g. bezafibrate) are PPAR-alpha agonists
❍
Ezetimibe and plant sterols inhibit cholesterol absorption in the intestine
❍
Nicotinic acid
6.8. Porphyria
A group of rare disorders caused by abnormalities of the enzymes in the haem
synthesis pathway. Two are more commonly encountered compared to others.
Acute intermittent porphyria
Autosomal dominant condition. Often onset is in teens to twenties. Clinical features:
GI symptoms (abdominal pain, constipation) with neuropsychiatric problems
(including seizures) and neuropathy. Often symptoms are episodic – precipitated by
various drugs including alcohol. Investigations: urine turns dark red on standing.
Porphyria cutanea tarda
Often sporadic in association with chronic liver disease (commonly alcohol-related).
Clinical features: photosensitive rash. Investigations: urine normal in colour.
87
7
Rheumatology
7.1. Rheumatoid arthritis
7.2. Seronegative arthritis
7.3. Crystal arthropathies
7.4. Septic arthritis
7.5. Osteoarthritis
7.6. Osteoporosis
7.7. Systemic lupus erythematosus
7.8. Antiphospholipid syndrome
7.9. Systemic sclerosis
7.10. Sjögren’s syndrome
7.11. Mixed connective tissue disease
7.12. Autoantibodies
7.13. Vasculitis
7.14. Collagen disorders
7.1. Rheumatoid arthritis (RA)
Chronic, symmetrical inflammatory polyarthropathy that can be deforming.
Incidence: 3:1 male to female ratio; onset commonly between 40–50 years.
CLINICAL FEATURES Joints
Pain: worse in the morning.
●
● Stiffness: worse in the morning, relieved by activity.
● Swelling, warmth and tenderness in the affected joints when disease active
(although may be masked due to use of NSAIDs).
Symmetrical involvement of the MCP/PIP joints and wrist most commonly
●
(although any synovial joint can be affected in RA) – classic features:
‘swan-neck’ and Boutonnière deformities
◗
◗ ‘z-shaped’ thumb
◗ ulnar deviation of the fi ngers.
In Rheumatoid Factor positive disease, rheumatoid nodules may be present – these
typically overly the extensor surfaces, most commonly the elbow (and rarely lung).
RA is a multisystem disorder (mnemonic – FRANCE-V):
F
elty’s syndrome: with splenomegaly and neutropenia.
●
Respiratory: pleural disease, pulmonary fibrosis, pulmonary nodules.
●
Amyloidosis (secondary): may cause renal disease (rarely).
●
Neurological: peripheral neuropathy or mononeuritis multiplex, carpal tunnel
●
syndrome, cervical myelopathy due to atlanto-axial subluxation.
C
●
ardiac: pericardial disease.
88
RHEUMATOLOGY
● Eye: dry eyes (if Sjögren’s), episcleritis, scleritis, rarely scleromalacia perforans.
Vasculopathy (and rarely vasculitis): nail fold infarcts.
●
Early treatment (particularly with newer drugs) decreases the frequency of systemic
complications.
INVESTIGATIONS
● Blood tests: anaemia can occur for many reasons, although most commonly it
is an ‘anaemia of chronic disease’.
ESR/CRP – raised in active disease.
●
● Rheumatoid factor – positive in ≈ 70%.
MANAGEMENT
● Requires a multidisciplinary team approach, involve particularly
physiotherapists and OT.
Drugs therapy:
●
◗ analgesia: paracetamol, opiates
◗ NSAIDs
◗ steroids: intra-articular, intramuscular, oral (usually only short term)
◗ disease-modifying anti-rheumatic drugs (DMARDs): commonly
methotrexate (others include gold, azathioprine, sulphasalazine)
anti-TNF therapy: e.g. infl iximab, etanercept
◗
◗ rituximab.
● Surgery: may occasionally be necessary, e.g. joint replacement.
7.2. Seronegative arthritis
‘Seronegative’ means that the rheumatoid factor is negative.
Ankylosing spondylitis
Associated with HLA-B27 in ≈ 90% of cases; 5:1 male to female ratio; onset
commonly between 20–40 years.
CLINICAL FEATURES
● Sacroiliitis and spondylitis.
◗ Pain and stiffness, usually more marked in lower back.
◗ Decreased movement in the spine and reduced chest expansion with classic
stooped ‘question-mark’ posture and protruding abdomen.
Peripheral arthritis (in 30–40%): commonly asymmetrical, affecting large-
●
joints.
Achilles tendonitis or other tenosynovitis.
●
● Other features (mnemonic – A’s): aortic regurgitation, AV block and other
cardiac conduction abnormalities, anterior uveitis, apical lung fi brosis,
amyloidosis, atlanto-axial subluxation.
INVESTIGATIONS AND MANAGEMENT
● Spine x-ray: characteristic features of ‘bamboo spine’, syndesmophytes and loss
of the lumbar lordosis.
Multidisciplinary team approach (including physiotherapy), NSAIDs,
●
anti-TNF.
Psoriatic arthropathy (see also Dermatology section)
Can occur with little skin involvement. There may be nail changes – pitting,
onycholysis, hyperkeratosis. Five main forms:
89
ESSENTIAL NOTES FOR MEDICAL AND SURGICAL FINALS
● Symmetrical polyarthritis: ‘RA’-like.
● DIP joints: ‘OA’-like.
● Axial disease (sacroiliitis/spondylitis): ‘Ankylosing spondylitis’-like.
● Asymmetrical oligoarthritis: ‘Reiter’s’-like.
● Arthritis mutilans (with ‘telescoping’ of the fi ngers).
MANAGEMENT Analgesia, NSAIDs and disease modifying agents.
Reiter’s syndrome/reactive arthritis
Triad of arthritis (asymmetrical, large joints), conjunctivitis and urethritis. Occurs
after Chlamydia infection or less commonly a gastrointestinal infection.
Arthritis associated with inflammatory bowel disease
Can occur prior to the onset of IBD. Clinical features: most commonly an
asymmetrical, large joint arthritis.
7.3. Crystal arthropathies
Gout
Caused by increased uric acid (although this is common and can be
asymptomatic).
Causes of hyperuricaemia:
decreased uric acid excretion – idiopathic (majority of cases), drugs (e.g.
●
thiazides, ciclosporin), renal failure, alcohol
increased uric acid production
●
– rare genetic disorders (e.g. LeschNyhan syndrome) or any cause of high cell turnover (e.g. myelo- and
lymphoproliferative disorders, psoriasis).
Acute gout
Often monoarticular at presentation – first metatarsophalangeal joint most
commonly affected. Joints are red, hot, swollen and very tender. Overlying skin
may appear shiny and tight.
Chronic tophaceous gout
Chronically, gout may become polyarticular. Tophi = collections of uric acid crystals
in the soft tissues may be present – ears, elbows and fingers are the most common
sites.
INVESTIGATIONS Negatively birefringent, needle-shaped crystals may be seen under
polarised light. Treatment: NSAIDs or colchicine for acute attacks. Allopurinol for
prevention of further attacks.
Pseudogout (calcium pyrophosphate deposition disease)
Clinical features: commonly asymptomatic with only radiological evidence of
disease (chondrocalcinosis) but may present as:
acute mono- or oligoarthritis: commonly knee or wrist
●
● secondary osteoarthritis: can affect many joints including MCP joints (rare in
primary OA)
similar to RA.
●
INVESTIGATIONS Deposition of calcium pyrophosphate with positively birefringent
rhomboid-shaped crystals seen under polarised light.
90
RHEUMATOLOGY
7.4. Septic arthritis
A medical emergency. Aetiology: in normal joints the most common cause is Staph.
aureus. However, in young adults gonococcus is a common cause. Coagulase-negative
Staph. causes septic arthritis in prosthetic joints. Other causes are Haemophilus
infl uenzae, various Strep. species and Gram negative rods, although these are all
more common in the very young.
CLINICAL FEATURES An acutely red hot, swollen joint.
INVESTIGATIONS It is important that the joint is aspirated and fluid sent for
microscopy (including Gram stain) and culture as well as to look for crystals (the
differential diagnosis includes gout/pseudogout).
MANAGEMENT A prolonged course (6–12 weeks) of antibiotics (guided by culture
and sensitivity) +/– surgical drainage and washout.
7.5. Osteoarthritis
Joint disease with initial loss of cartilage and secondary bone changes. Commonest
form of arthritis. Incidence increases with increasing with age.
CLINICAL FEATURES Involvement of one or two large weight-bearing joints is
common, e.g. the hips or knees; spine is also commonly affected although any joint
can be involved.
JOINTS FEATURES
● Pain.
● Stiffness – worse after activity.
● Instability of the joint with loss of function.
● Crepitus on moving the joint.
● Deformity/osteophytes as disease progresses.
Some patients will present with ‘nodal’ OA affecting the hands (PIP/DIP/fi rst
carpometacarpal joint but rarely MCP in primary OA): there are fi rm nodular
swellings over the joints – Bouchard’s nodes (PIP joints) and Heberden’s nodes (DIP
joints). Although the majority of cases are primary OA, there may be a secondary
cause: other joint diseases (e.g. RA, septic arthritis, gout), metabolic disorders
(e.g. haemochromatosis), and previous injury of the joint, congenital dysplastic
disorders.
INVESTIGATIONS AND MANAGEMENT
● X-ray: characteristic appearance with loss of joint space, osteophytes,
subchondral sclerosis, bone cysts.
Conservative measures: appropriate footwear, weight loss, exercise, supportive
●
aids.
Analgesia.
●
● Surgery (e.g. joint replacement).
7.6. Osteoporosis
Loss of bone density, associated with an increased risk of fracture. May be primary
or secondary, e.g. associated with steroid use.
CLINICAL FEATURES May be asymptomatic. Often diagnosed following a fracture.
91
ESSENTIAL NOTES FOR MEDICAL AND SURGICAL FINALS
When osteoporosis affects the back there may be a decrease in height with progressive
kyphosis secondary to vertebral collapse.
INVESTIGATIONS AND MANAGEMENT
● Imaging: dual energy x-ray absorptiometry (DEXA) scan.
● Calcium/vitamin D supplementation and a bisphosphonate commonly used to
prevent further fracture or prevent fractures in those with risk factors.
Other treatments: raloxifene (used in women where bisphosphonates are
●
contraindicated) and teriparitide.
7.7. Systemic lupus erythematosus (SLE)
A multisystem autoimmune disorder of unknown aetiology. 10:1 female to male
ratio.
CLINICAL FEATURES
● Arthralgia or arthritis.
● Rash.
● Malar (‘butterfl y’).
● Discoid.
● Photosensitive.
● General systemic: fatigue, fever, lymphadenopathy.
● Haematological: anaemia (often haemolytic), thrombocytopenia, leucopenia.
● Ulcers: mouth.
● Neuropsychiatric: seizures, psychosis.
● Kidney: class I-V lupus nephritis.
● Serositis: pleuritis, pericarditis.
ANTIBODIES/OTHER BLOOD TESTS
● ANA: positive in > 95%.
● Anti-dsDNA: positive in ≈ 60% but specifi c.
Anti-Sm: only positive in ≈ 20% but specifi c.
●
Raised ESR with normal CRP (but CRP raised in infection/serositis/arthritis).
●
● Low complement: C3/C4.
MANAGEMENT
● Conservative measures: e.g. sunscreen/avoidance of sun if photosensitive rash.
● Hydroxychloroquine.
● Steroids.
● For renal disease: steroids +/– second agent depending on class (e.g.
mycofenolate mofetil).
Rituximab.
●
7.8. Antiphospholipid syndrome
CLINICAL FEATURES
● Arterial and venous thromboses (e.g. DVT, stroke/TIA).
Recurrent miscarriages.
●
● Thromobocytopenia.
● Livedo reticularis.
● Migraine.
ANTIBODIES
● One or more are positive: anti-cardiolipin, false-positive VDRL test, anti-β
glycoprotein I, positive ‘lupus anticoagulant’.
92
-
2
RHEUMATOLOGY
MANAGEMENT
● Optimise/eliminate risk factors, e.g. stop OCP, control BP, encourage smoking
cessation.
If evidence of thrombosis (may be venous of arterial) anticoagulate with
●
initially SC heparin then warfarin.
Counsel with regard to pregnancy.
●
● In select cases, further treatment may include plasma exchange, corticosteroids,
IV immunoglobulin and cyclophosphamide.
7.9. Systemic sclerosis
A multisystem connective tissue disorder with fibrotic and vascular changes. First
symptom (often years before others) is generally Raynaud’s phenomenon. 5:1 female
to male ratio. Classically divided into two categories: limited and diffuse, however,
there is an overlap. Clinical features correlate with the pattern of autoantibodies
present.
Limited systemic sclerosis
● Scleroderma (thickened skin) limited to face (beaked nose, microstomia), neck
and the limbs distal to the elbow/knee.
Formerly known as the CREST syndrome due to some of the features seen:
●
Calcinosis, Raynaud’s phenomenon, oEsophageal disease (refl ux, dysmotility),
Sclerodactyly, Telangiectasia.
Pulmonary hypertension.
●
Diffuse systemic sclerosis
● Skin: scleroderma which can extend proximally to the elbow/knee and also to
the face/trunk.
Lungs: pulmonary fi brosis.
●
● Kidneys: renal crisis.
● Gastrointestinal (any part of gut): bacterial overgrowth, constipation.
● Cardiac: cardiomyopathy, arrhythmias.
● Musculoskeletal: arthralgia or more rarely arthritis, myositis.
Note: Localised form of disease with patches of scleroderma = morphoea.
ANTIBODIES
● ANA: positive in ≈ 90% of cases.
Anti-centromere: classically seen in limited.
●
● Anti-Scl-70 (topoisomerase): classically seen in diffuse.
● Others: anti-RNA polymerase, anti-U3RNP.
MANAGEMENT
● Raynaud’s: simple measures to keep hands warm, vasodilators (calcium-
channel blockers) and if severe prostacyclin.
Skin: methotrexate, cyclophosphamide and mycofenolate mofetil are all used.
●
● Renal: ACE-inhibitors (used in prevention/treatment of a renal crisis),
prostacyclin.
Pulmonary fibrosis: cyclophosphamide, steroids.
●
● Pulmonary HT: symptomatic treatment (e.g. diuretics), warfarin, prostacyclin,
bosentan.
Oesophageal: proton-pump inhibitors.
●
93