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Showing posts with label mrcpuk. Show all posts

Cervical radiculopathy

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Cervical radiculopathy describes a condition in which impingement/irritation of the cervical nerve roots causes symptoms in the neck/upper limb. 

The classical presentation is arm/neck
  • Pain 
  • Weakness 
  • Numbness

If C7 is affected there may be scapula winging. 

Causes of cervical radiculopathy include 
  • Disc herniation 
  • Bony degeneration 

Diagnosis 
  • Clinical impression/provocation tests 
    • Upper limb tension test – high sensitivity 
    • Spurling’s test or shoulder abduction test– high specificity 
  • Electromyographical studies 
  • Imaging – MRI, CT myelography 

Management 
  • Analgesia 
  • Note that for most patients signs and symptoms will resolve spontaneously over time without treatment 
  • ? TCA 
  • ? epidural steroid injection 
  • ? surgical decompression 


References
 

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Alkaptonuria

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Alkaptonuria is an autosomal recessive inborn error of metabolism caused by the accumulation of homogentisic acid due to a deficiency of an enzyme called HGO (homogentisate 1.2-dioxygenase).

It is characterized by: 
  • Urine that turns dark on standing 
  • Dark pigmentation of cartilage and connective tissue (ochronosis) 
    • In MRCP classically look for pictures with a dark patch on the sclera or pinna 
  • Arthritis 

It is also associated with: 
  • Renal stones 
  • Aortic dilation
  • Deterioration of cardiac valves 

Spinal xrays show intervertebral calcification 

Treatment: 
  • No definitive treatment at present. 
  • No clear benefit from low-protein diet or vitamin C supplements 
  • Possibly nitisinone in the future 


Small print gems: the pigmentation is called ochronosis because when viewed microscopically it appears ochre, despite appearing grey-black to the naked eye.  It is sometimes called Garrod's disease after the doctor who discovered it.

References 

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Gout

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Gout is an inflammatory arthritis caused by monosodium urate crystals in and around joints. 

The most commonly affected joint is the first metatarsophalangeal joint. When this is affected it is called a podagra. 

Tophi may develop in chronic disease.

The most important risk factor for developing gout is hyperuricaemia. 

Hyperuricaemia may be caused by: 
  • Urate overproduction: 
    • Psoriasis
    • Excessive dietary purine intake 
    • Cytotoxics 
    • B12 
    • Alcohol 
  • Urate underexecretion 
    • Renal impairment 
    • Diuretics 
    • Low-dose aspirin (but not this should still be given for cardioprotection if indicated) 
    • Hypothyroidism 
    • Lead poisoning 

Investigation
  • Microscopy of joint aspirate - monosodium urate crystals are fine, needlelike and negatively birefringent under polarized light. 
  • Serum urate level – usually raised but may be normal during an acute attack
  • XR 
    • Usually normal until chronic disease and then may show extra-articular erosions and widened joint space 

Management 
  • Acute gout 
    • Rest joint 
    • NSAIDs 
    • Colchicine if NSAIDs contraindicated 
    • Corticosteroids (orally or intraarticularly) if NSAIDs/colchicine not sufficient 
    • Do not start allopurinol during an acute attack 
  • Preventative options 
    • Diet inclusive of soy beans, cherries and skimmed milk
    • Avoidance of liver, kidneys, shellfish and yeast extracts/purine rich foods
    • Restrict alcohol intake 
    • Allopurinol 
      • Works by inhibiting xanthine oxidase 
      • Give if 
        • Second attack or 
        • Tophi or 
        • Renal insufficiency or 
        • Uric acid stones or 
        • On diuretics 
      • Start 1-2 weeks after inflammation has settled 


Small print gem: a side effect of colchicine is diarrhoea 


References 

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Polycystic ovarian syndrome

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The definition for polycystic ovarian syndrome varies, but the one adopted by the RCOG is 2 of 3 of: 
  • Polycystic ovaries (12 or more peripheral follicles or ovarian volume >10cm^3) 
  • Oligo or anovulation 
  • Clinical and/or biochemical signs of hyperandrogenism (hirsuitism, acne, alopecia) 

Features associated with polycystic ovarian syndrome include: 

Biochemically:
  • Raised LH (40% of women) 
  • Raised testosterone 
  • Low or normal FSH 

Management 
  • Lifestyle changes to encourage weight loss 
  • OCP to block androgen effects
  • Topical eflornithine hydrochloride (an inhibitor of the enzyme ornithine decarboxylase) for hirsuitism 
  • Metformin
  • Clomifene if fertility issues 
  • ?ovarian drilling 


References

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Cryoglobulins

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Cryoglobulins are immunoglobulins that precipitate at temperatures below 37 c and redissolve above 37 c.  They are identified in the laboratory by storing clotted blood at 4 c for 7 days and looking for a precipitate. 

There are 3 types of cryoglobulinaemia:
 
  • Type 1 cryoglobulinaemia 
    • Monoclonal, usually IgM 
    • Accounts for 10-15% of cases of cryoglobulinaemia
    • Associated with 
      • Multiple myeloma 
      • Waldenstroms macroglobulinaemia 
      • CLL 
    • Features of type 1 cryoglobulinaemia include 
      • Raynaud’s 
      • Acrocyanosis 
      • Gangrene 

  • Type 2 and Type 3 cryoglobulinaemia = mixed cryoglobulinaemias 
    • Type 2 is mono and poly clonal while type 3 is polyclonal only 
    • Type 2 is the commonest, accounting for 50-60% of all cases of cryoglobulinaemia 
    • The IgM of mixed cryoglobulinaemia typically has rheumatoid factor activity 
    • Features include 
      • ‘Classic triad’ 
        • Purpura 
        • Arthralgia 
        • Weakness 
      • Widespread vasculitis 
      • Ulcers 
      • Peripheral neuropathy 
      • Membranoproliferative glomerulonephritis 
    • Associated with 
      • Hepatitis C (most common association)
      • HIV 
      • Sjogren’s syndrome 
    • Mixed cryoglobulinaemia may be complicated by 


References 

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Liver abscesses

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Liver abscesses may be: 
  • Pyogenic (80% of liver abscesses in the developed world) 
  • Amoebic 
  • Fungal 

Presentation: 
  • Fever
  • Abdominal pain/tenderness 
  • Nausea/vomiting 
  • Chest pain 
  • Weight loss 
  • Rarely: cough/hiccups from diaphragmatic irritation

Diagnosis:
  • US 
  • CT 
  • Bloods – raised ALP commonest finding on LFTs 

Management 
  • 2-3 weeks broad-spectrum IV antibiotics followed by 2-4 weeks oral antibiotics 
  • Percutaneous drainage if >3cm in size 
  • Surgical drainage if multiple/loculated abscess

Small print gem: most abscesses (around 70%) are in the right lobe of the liver


References 

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Venous sinus thrombosis

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Venous sinus thrombosis can occur in any of the venous sinuses, but occur most commonly in the superior sagittal and lateral sinuses (70% of cases).  The other famous location for venous sinus thrombosis is the cavernous sinus. 


Aetiology may be aseptic or septic.

Aseptic venous sinus thrombosis is associated with
  • Haematological causes 
  • Post surgical causes 
  • Drugs
    • OCP
    • Androgens
    • Ecstasy
  • Pregnancy  - most commonly postpartum
  • Inflammatory conditions
  • Malignancies

Septic venous sinus thrombosis is associated with sinusitis, otitis media, bacterial meningitis and also facial/orbital/dental infections.


Presentation of venous sinus thrombosis includes:
  • headache
  • focal seizures
  • paresis
  • papilloedema
  • impairment of consciousness

Features suggestive of cavernous sinus thrombosis include
  • Headache
  • Ophthalmoplegia
  • Proptosis 
  • Eyelid swelling
  • Decreased visual acuity 
  • Chemosis

Investigations
  • MR-V/CT-V - classically look for empty delta sign  - but this is only present in 20%. A CT head without contrast will only show signs of a venous sinus thrombosis in a third of cases.
  • LP – is not a recommended investigation but if performed may show raised opening pressure, raised protein, pleocytosis

Treatment is to treat cause and anticoagulation.

Complications  include PE and in the case of cavernous sinus thrombosis hypopituitarism.


The diagram below is a brief reminder of the anatomy of the cavernous sinus:
Last updated February 2015

References

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P450 inducers and inhibitors

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P450 inducers = increase metabolism of drugs metabolised by cytochrome P450 and thus decrease drug effect
  • Carbamazepine 
  • Phenytoin 
  • Rifampicin 
  • Phenobarbital 
  • Tobacco 
  • Chronic alcohol 
  • St Johns Wort 

P450 inhibitors = decrease metabolism of drugs metabolised by cytochrome P450 and thus increase drug effect
  • Cardiac
    • Amiodarone 
    • Verapamil
    • Quinidine
  • Antibiotics
    • Ciprofloxacin
    • Erythromycin
    • Metronidazole
    • Trimethoprim
    • Isoniazid
  • Antifungals
    • Fluconazole
    • Terbafine
  • HIV antivirals
  • Antacids
    • Cimetidine
    • Omeprazole
  • Psychiatric drugs
    • TCA
    • SSRIs especially fluoxetine
    • Haloperidol
  • Others
    • Methadone
    • Grapefruit juice

Drugs metabolised by cytochrome P450 include:
  • Cardiac
    • Beta blockers
    • Angiotensin II blockers
    • Statins
  • Psychiatric drugs
    • TCA
    • SSRI
    • antipsychotics
  • Analgesics
    • Tramadol
    • Codeine
    • Ibuprofen
  • Antiepileptics
  • Other
    • Sildenafil
    • Warfarin
    • Donepezil
    • PPIs
    • Glipizide
    • Theophylline


Small print gem: the name cytochrome P450 comes from the fact the enzymes are inside the cell (cyto) and contain a haem pigment (chrome P) that absorbs light at a wavelength of 450nm when exposed to carbon monoxide



References:

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Trichomonas vaginalis

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Trichomonas vaginalis is the commonest non-viral sexually transmitted infection worldwide. It is caused by the flagellated protozoan trichomonas vaginalis. 

Presentation:
  • Asymptomatic in up to 50% of infections 
  • Vaginal discharge 
    • Ranges from thin to thick; classically frothy yellow but this occurs in just 30% of cases 
    • malodorous 
  • Itchiness 
  • Dysuria 
  • Dyspareunia 
  • ‘strawberry cervix’ - occurs in around 2%

It increases the risk of infection with HIV.
It is associated with adverse pregnancy outcomes such as low birth rate. 

Diagnosis
  • Microscopy 
  • Culture in Diamond’s medium 

Treatment 
1st line – metronidazole 
2nd line – tinidazole 


References:

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Behcet’s disease

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Behcet’s disease is a systemic vasculitis of unknown aetiology.

It was classically described as a triad of: 
  • Uveitis 
  • Oral ulcers 
  • Genital ulcers 

The criteria for clinical diagnosis of Behcet’s disease has now extended to: 
  • Recurrent oral ulcers (at least 3 times in a year) 
  • With any 2 of:
    • Genital ulcers
    • Positive pathergy test – formation of a pustule in response to pin-prick
    • Eye involvement (such as anterior or posterior uveitis, retinal vasculitis)
    • Skin lesions (Erythema nodosum, foliculitis, other ulcerations)

Other features of Behcet’s disease can include 
  • Arthritis 
  • Gastrointestinal ulceration
  • Neurological involvement 
  • Thrombophebitis 
  • Aneurysms, especially aortic aneurysms 

Behcet’s disease is most common in patients of Mediterranean, Middle Eastern and Japanese origin. 
Males are more affected than females 
It is associated with HLA B51. 

Severe disease is managed with steroids and immunosupression. 


References:

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Retinal vein occlusion

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Retinal vein occlusion is the second most common retinal vascular disorder and a cause of painless vision loss. 

It is divided into branch retinal vein occlusion (most common) and central retinal vein occlusion. Each of these subdivisions are further divided into ischaemic (worse prognosis, poorer vision) and non-ischaemic. It is worth noting non-ischaemic CRVO can transform into ischaemic in 30% of cases 

Presentation
BRVO – painless decrease in vision or visual field defect 
CRVO – usually sudden, painless unilateral visual loss 

Investigation
  • Fundoscopy
    • Retinal haemorrhages (blot and flame shaped) 
    • Increased tortuosity of retinal veins 
    • Cotton wool spots 
    • Papilloedema 
    • Macular oedema 
  • Relative afferent papillary defect 
  • ? Fluorescein angiography 

Risk factors for RVO 
  • Age 
  • Hypertension 
  • Diabetes 
  • Smoking 
  • Hyperlipideamia 
  • Open angle glaucoma 
  • Myeloproliferative disorders – 1% of those with RVO 
  • Systemic vasculitis e.g. Behcet’s disease, PAN 

Management 
  • Refer to ophthalmology:
    • Investigation and treatment of risk factors 
    • Laser photocoagulation 
    • Anti-VEGF agents (bevacizumab, ranbizumab, pegaptanib)
    • Dexamethasone intravitreal implant 

Complications 
  • Glaucoma 
  • Iris neovascularisation 

References:

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Pericardial effusion

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Pericardial effusion is a collection of fluid around the heart in excess of the usual 15 to 50mls of pericardial fluid. 

It is often associated with pericarditis – 60% of cases of pericarditis are accompanied by a pericardial effusion. 

Causes include: 
  • Malignancy (especially lung, breast, leukaemia, lymphoma) 
  • Idiopathic 
  • Trauma 
  • Uraemia
  • Radiation
  • Postoperative 
  • Infection 
  • Connective tissue disease 
  • Hypothyroidism

Management 
  • Depends on aetiology 
  • Pericardiocentesis only if: 
    • Tamponade
    • Suspicion of purulent pericarditis 
    • Chronic large effusion

Complication: Cardiac tamponade


References:

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Pulsus paradoxus

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Pulsus paradoxus is an inspiratory fall in systolic BP greater than 10mmHg.

In a ‘normal’ person the systolic BP usually falls around 6mmHg in inspiration. The ‘paradox’ refers to the fact that although the radial pulse is absent, heart sounds can be auscultated.

The commonest cause of pulsus paradoxus is cardiac tamponade (sensitivity 98%, specificity 83%) 

Other causes of pulsus paradoxus include: 

Pulsus paradoxus can be measured by 
  • Cuff sphygmonanometry 
  • Arterial waveform analysis 
  • Pulse oximetry waveform analysis 


References 

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Alpha-1 antitrypsin deficiency

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Alpha-1 antitrypsin deficiency is a condition which predisposes to emphysema and liver disease. It is inherited in an autosomal co-dominant fashion. 

Alpha-1 antitrypsin itself is a protease inhibitor produced in the liver. In the lungs this protects alveolar tissue from damage by neutrophil elastase. Its lack in the liver can result in cirrhosis.

A deficiency makes it likely COPD will develop in the third or fourth decade in smokers or fifth or sixth decade in non-smokers. The classical pattern of lung damage is panlobular emphysema in the lower lobes.

The severity of the deficiency depends on the alleles – ‘normal’ levels of alpha-1 antitrypsin occur with MM, with lower levels with SS and lower levels still with ZZ. 

Management involves avoidance of cigarette smoke and possibly lung/liver transplantation in end-stage disease. 


Small print gem: Panniculitis is associated with the ZZ form of alpha-1 antitrypsin deficiency. It is inflammation of fat under the skin and presents as a tender, ‘woody’ feeling area with nodules or lumps under the skin.


References:

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Histiocytosis X

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Histiocytosis X, also known as Langerhans cell histiocytosis, is a disorder in which there is clonal proliferation of the Langerhans cell (an antigen-presenting cell) which results in granulomatous lesions in organs. 

Multiple organs can be affected but the commonest affected is bone, followed by skin. 

Presentation depends on the organ(s) affected and varies from asymptomatic to swelling and pain, systemic features and organ failure. 

Pulmonary histiocytosis is commonest in young smokers. Presentation tends to be with a non-productive cough or dyspnoea. CXR shows upper and mid-zone nodules and reticular/cystic changes. 

The characteristic feature on biopsy is Birbeck granules.

Treatment options in problematic disease include surgical excision, steroids, radiotherapy or chemotherapy. 


References:

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Alopecia

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Alopecia (hair loss) has many causes. These can be broadly divided into scarring and non-scarring.

Causes of scarring alopecia:
  • Radiation
  • Burns
  • Systemic disease
    • Discoid lupus erythematosus
    • Sarcoidosis
    • Lichen planus
    • Necrobiosis lipoidica diaticorum
  • Infection
    • Fungal
    • Bacterial
  • Neoplasm
    • Basal call carcinoma
    • Squamous cell carcinoma

Causes of non-scarring alopecia:
  • Alopecia areata
    • believed to be an autoimmune condition
    • ‘patches’ of hair loss
    • 50% of patients have regrowth within a year
    • associated with
      • thyroid disease
      • vitiligo
    • if complete loss of all hair on scalp = alopecia totalis
    • if complete loss of all body hair = alopecia universalis
  • Adrogenic 
    • 50% of white men by age 50
    • Treat with topical minoxidil or oral finasteride
  • Traction alopecia
  • Trichotillomania
  • Telogen effluvium
    • Anagen-phase hair follicles prematuraurely move to the telogen phase, resulting in increased hair loss 
    • Causes:
      • Pregnancy
      • Chronic systemic illness
      • Surgical trauma
      • Systemic lupus erythematosus
      • Thyroid disease – hyper or hypothyroidism
      • Deficiency
        • Iron
        • Zinc
        • Vitamin D
      • Tinea capitis
      • Drugs
        • Anticoagulants
        • Anticonvulsants
        • ACE-i
        • Lithium
        • Beta blockers
        • OCP


References:

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Phaeochromocytoma

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Phaeochromocytomas are rare tumours of chromaffin cells which produce catecholamines. 

Presenting features may include:
  • hypertension 
  • headache 
  • palpitations 
  • diaphoresis (=excessive sweating) 
  • nausea and vomiting 

10% are familial, as part of MEN II, neurofibrosis or Von Hippel Lindau syndrome 
10% are bilateral, 10% are malignant and 10% are extraadrenal 

Extraadrenal sites include the organ of Zuckerkandl and bladder. 

Diagnosis is by 24 hour urinary VMA. Localisation is then by CT/MRI. 

Management is surgical with pre operative alpha blockade (prazosin or phenoxybenzamine)


Small print gem: Metoclopramide must be avoided in patients with phaechromocytoma as it increases noradrenaline release via presynaptic dopamine receptor blockade, which in the presence of a phaechromocytoma can cause severe hypercatecholaminaemia. 


References:

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Yellow nail syndrome

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Yellow nail syndrome is a triad of: 
  • Dystrophic, slow growing yellow nails 
  • Lymphoedema 
  • Respiratory manifestations (pleural effusion/bronchiectasis/recurrent lung infections)
2 of the 3 are required for diagnosis


Conditions associated with yellow nail syndrome include: 
  • Rheumatoid arthritis 
  • TB 
  • Malignancy 
  • Diabetes
  • Thyroid dysfunction 


References:

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Myelofibrosis

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Idiopathic myelofibrosis is a clonal haematopoietic stem cell disorder in which there is increased bone marrow fibrosis. This causes extramedullary haematopoiesis, ie blood cell production in alternate sites such as the spleen/liver. 

Presentation:
  • Fatigue 
  • Weight loss 
  • Night sweats
  • Low grade fever 
  • Splenomegaly 
  • Bleeding 
  • Complications of extramedullary haematopoiesis 

Investigations 
  • Bloods 
    • Normochronic anaemia, Teardrop cells 
    • Thrombocytopaenia with large abnormal platelets or thrombocytosis 
    • Leucoerythroblastic cells (=immature red and white cells) 
  • Bone marrow 
    • ‘Dry tap’ on aspiration 
    • Biopsy shows increased fibrous tissue and megakaryocytes 
  • JAK2 in 50% 

Treatment 
  • Supportive – transfusions 
  • Splenectomy 
  • Only chance of cure is with allogenic stem cell transplantation

Prognosis: poor – median survival less than 5 years. 


Secondary myelofibrosis – this is a reaction to a disease rather than a clonal myeloproliferative disorder. Causes of secondary myelofibrosis include myeloma, metastatic carcinoma and TB. 


References:

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Lichen sclerosus

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Lichen sclerosus is an autoimmune inflammatory condition characterized by white papules and plaques, often associated with areas of ecchymosis. 

The commonest location for plaques is the genitalia.

Lichen sclerosus may be asymptomatic or present with an itch. 

The peak age for presentation is bimodal - prepubertal and over the age of 50.

Possible complications include scarring and rarely transformation to squamous cell carcinoma. 

Management is with topical corticosteroid or surgery in the case of scarring or malignant change. 


References:

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Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas. [Sarah Hudson] (Your Picture)