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Polycystic kidney disease

/ / / /
Autosomal dominant polycystic kidney disease 

Incidence 1 in 1000

2 types exist: 
  • Type 1 
    • mutation in PKD1 on chromosome 16 
    • 85% of cases
    • more severe disease – earlier end stage renal failure
  • Type 2 
    • mutation in PKD2 on chromosome 4

Presentation: 
  • Flank/back pain 
  • Haematuria 
  • UTI 
  • Abdominal mass 
  • Hypertension (75%) 

Note that autosomal dominant polycystic kidney disease is a systemic disease: 
  • Cysts may also be found in: 
    • Liver (75% of patients) 
    • Pancreas 
    • Ovaries
    • Choroid plexus
  • Other associated complications include 


Autosomal recessive polycystic kidney disease

  • Incidence 1 in 6000 - 40000 
  • Inherited on chromosome 6 
  • Up to 30% die by the neotnatal period
  • End stage renal failure occurs in a third in childhood
  • Associated with congenital hepatic fibrosis 


Other genetic diseases causing renal cysts include: 

References

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Leptospirosis

/ / / /
Leptospirosis is the infection caused by the spirochaete leptospira.

Transmission is classically by exposure of skin/mucous membranes to contaminated rats urine, for example swimming in rivers/ falling out of boats. This is known as Weil’s disease. 

Transmission may also be from cattle to humans – this is the Hardjo form of leptospirosis. 

Incubation period is 2 to 20 days. 

Presentation
  • Fever
  • Headache 
  • Myalgia
  • Arthralgia
  • Nausea/vomiting 
  • Jaundice 
  • Photophobia

Complications of leptospirosis, which usually occur 5 to 10 days after infection, include:
  • Renal failure 
  • Hepatic failure
  • Aseptic meningitis 
  • Pulmonary haemorrhage

Diagnosis may be by culture, PCR or serology. 

Treatment is with doxycycline, ceftriaxone, amoxicillin, erythromycin or benzylpenicillin. 


References

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Giant cell arteritis

/ / / /
Giant cell arteritis (=temporal arteritis) is a systemic medium and large vessel vasculitis with a predilection for the extracranial branches of the carotid arteries. 

Presentation may include 
  • Headache (around 70%) 
  • Jaw claudication (around 40%) 
  • Fever (around 30%) 
  • Amarosis fugax (around 25%) 

The American College of Rheumatology GCA diagnostic criteria gives >90% sensitivity and specificity if >/= 3 of the following are present:
  • age =/> 50
  • new onset localised headache
  • ESR >/= 50mm/hr
  • temporal tenderness or decreased temporal pulse
  • characteristic biopsy.]

Roughly 50% of people with giant cell arteritis also have polymyalgia rheumatica
Almost all patients are >50 years old
Women are more frequently affected than men (3:1)
There is an association with HLA-DR4 


Diagnosis
  • ESR – usually raised 
  • Abnormal temporal arteries on examination 
  • Temporal artery biopsy
    • Mononuclear infiltrates or granulomas
    • Normal biopsy does not exclude diagnosis as there are ‘skip lesions’ 

Treatment is oral steroids (start at 1mg/kg prednisolone unless visual impairment or stroke, in which case use IV methylprednisolone) Taper slowly but continue for at least 12 months.

Complications 
  • Irreversible blindness (up to 10%)
  • Aortic aneurysms 
  • Aortic regurgitation
  • Ischaemic strokes 
  • Recurrence -  up to 40% relapse within 2 years.

References

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Ankylosing spondylitis

/ / /
Ankylosing spondylitis is a chronic inflammatory disease that primarily affects the axial skeleton, with sacroilitis being the main feature. It is one of the spondyloarthropathies.

It affects more males than females (5:1) 
There is a strong association with HLA B27 (around 95% of patients)

Classic presentation: 
  • Low back pain 
    • Worse in morning 
    • Worse after rest
    • Improves with activity 

Examination 
  • Restricted flexion and extension of lumbar spine 
    • Schober’s test: 2 marks on patient’s back 10cm apart, with lower mark at level of posterior superior iliac spine normal flexion results in an increase of 5cm or more
  • Loss of lumbar lordosis
  • Increased thoracic kyphosis 
  • Decreased chest expansion 

Investigation 
  • Spinal XR
    • Squaring of vertebral bodies
    • Ossification of spinal ligaments
    • Fusion of vertebral column - ‘bamboo spine’ 
  • MRI 

Extra-articular associations: 
  • Psoriasis
  • Uveitis 
  • Inflammatory bowel disease 
  • Increased risk of cardiovascular disease 
  • Increased risk of osteoporosis 
  • Aortic regurgitation 
  • Pulmonary fibrosis 
  • Cardiac conduction problems 

Treatment 
  • Regular exercise
  • NSAIDs 
  • Anti-TNF therapy
  • No evidence for DMARDs in axial disease, but sulfasalazine may be considered for peripheral arthritis 


References

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Pyoderma gangrenosum

/ /
Pyoderma gangrenosum is an ulcerating skin disease. 

Presentation: 
  • A deep violet-blue ulcer with a well-defined, undermined edge 
    • Can occur anywhere but is most common on the legs 
    • Usually painful 
  • Systemic symptoms – fever, arthralgia, malaise

It is a neutrophillic dermatoses, like Sweet’s syndrome 

Around half of cases of pyoderma gangrenosum are idiopathic. 
The other half may be associated with:

Diagnosis 
  • Pyoderma gangrenosum is a clinical diagnosis 
  • Biopsy may be undertaken to exclude other diagnoses, such as malignancy or vasculitis

Treatment
Currently a lack of definitive evidence but in general systemic steroids or ciclosporin are used. 



References

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Von Willebrand disease

/ / / / /
Von Willebrand disease is defined as impaired Von Willebrand Factor (VWF) function resulting in impaired haemostasis. It is the commonest of the inherited bleeding disorders.

Von Willebrand’s factor is a glycoprotein made in epithelial cells and megakaryocytes which:
  • Acts as a bridging molecule between platelets and the sub-endothelium
  • Helps platelets bind to each other
  • Is a carrier of factor VIII, helping to prevent its breakdown in the circulation 

Types of Von Willebrand’s disease:
  • Type 1
    • Decreased quantity of VWF 
    • Mild to moderate bleeding
  • Type 2 (several subtypes exist) 
    • Qualitative defect - abnormal types of VWF 
  • Type 3 
    • Trace of VWF
    • Autosomal recessive 
    • Severe bleeding disorder

Presentation includes
  • Prolonged bleeding after injury 
  • Easy bruising
  • Prolonged epistaxis 
  • Menorrhagia 
  • Oral bleeding (eg after tooth extraction) 

Investigation 
  • VWF antigen level
    • At least 2 occasions 
    • Will be low or normal in Von Willebrand’s disease 
    • Note it is elevated by exercise and hyperthyroidism
    • It is decreased by hypothyroidism 
  • Von Willebrand factor ristocetin cofactor activity
  • PT, platelet count and fibrinogen levels are usually normal
  • aPPT usually prolonged

Treatment 
  • Desmopressin (DDAVP) 
    • Increases factor VIII and VWF 
    • Useful in type 1, variably useful in type 2, not useful in type 3
  • Tranexamic acid 
    • An antifibrinolytic agent 
    • Useful in management of epistaxis and menorrhagia 
    • Avoid in patients with history of thromboembolic disease or current upper urinary tract bleeding
  • VWF/factor VIII concentrate 



Acquired von Willebrand syndrome is associated with
  • Myeloproliferative disorders 
  • Autoimmune diseases 
  • Neoplasia 
  • Lymphoproliferative disorders 
  • Structural cardiac defects 


Small print gem: VWF is an acute phase protein and so may be raised in infection, malignancy and inflammatory conditions.


References

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Barrett’s oesophagus

/ / /
Barrett’s oesophagus is a change in the lining of the oesophagus from normal multilayered squamous mucosa to single layered metaplastic columnar mucosa. 

It occurs in 2% of the population 

Causes of Barrett’s oesophagus:
  • Gastrooesophageal reflux disease – main cause -  Barrett’s develops in 5% of patients with GORD
  • Chemotherapy 
  • NSAID use 
  • Viral oesophagitis 
  • Congenital retardation syndromes 

Diagnosis is by endoscopy with biopsy 

The main complication associated with Barrett’s oesophagus is conversion to oesophageal adenocarcinoma.  This occurs in 5% men and 3% women with Barrett’s oesophagus.

Risk factors for conversion: 
  • Male gender 
  • White ethnicity
  • Length  affected >8cm 
  • Smoking 
  • Obesity 
  • Diet low in fruit and veg but high in fats 

Management: 
  • Endoscopy with biopsy every 2 years 
  • Acid suppression therapy (usually PPIs)
  • ?Nissen fundiplication 


References

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Mesothelioma

/ /
Most cases of mesothelioma are caused by asbestos fibres. Amphibole asbestos fibre has a higher risk of mesothelioma than amphibole fibre. 

The median latency between exposure to asbestos and death from mesothelioma is 32 years  

Presentation: 
  • Chest pain – may be dull, heavy, aching or pleuritic 
  • Dyspnoea
  • Less commonly: 
    • Cough 
    • Abdominal pain
    • Pneumothorax 

Metastatic symptoms are uncommon

Diagnosis 
  • History – look for occupational asbestos exposure
  • Examination 
  • Investigations
    • CXR – may show 
      • Pleural thickening 
      • Pleural effusion 
    • CT chest 
    • Pleural tap
    • If doubt about diagnosis - biopsy 

Management
  • Early pleurodesis for symptomatic relief 
  • Palliative radiotherapy 
  • Possible chemotherapy 
  • Make patients aware of medicolegal aspects 
  • Radical surgery only indicated as part of a clinical trial 

Prognosis 
Median survival once diagnosed is 8 to 14 months 

Small print gem: mesothelioma may also be peritoneal but this is rarer – there are 12 cases of pleural mesothelioma for each case of peritoneal mesothelioma


References

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Dumping syndrome

/ /
Dumping syndrome develops after gastric surgery in up to 50% of cases, with up to 10% having significant symptoms. 

Dumping syndrome can be divided into early and late:
  • Early dumping syndrome 
    • Occurs 10 to 30 minutes after eating
    • Symptoms
      • Vasomotor symptoms 
        • Palpitations
        • Sweating 
        • Weakness 
      • Gastrointestinal symptoms 
        • Bloating
        • Cramping 
        • Diarrhoea 
    • Thought to be due to rapid emptying of hypermosmolar stomach contents into the small bowel, causing fluid shift from extravascular space into the intestinal lumen 
    • accounts for 75% of dumping syndrome
  • Late dumping syndrome
    • Occurs 2 to 4 hours after eating
    • Symptoms
      • Sweating 
      • Palpitations
      • Confusion
      • Occasionally syncope
    • Thought to be due to reactive hypoglycaemia 
    • Diagnosis may be confirm by frequent blood samples after an oral glucose challenge 

Management 
  • Reduction of carbohydrate intake 
  • ? octreotide in severe cases


References

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Mitral stenosis

/ /
The normal area of the mitral valve is 4-6cm ^2

Mild mitral stenosis: area 1.6-2cm^2 with a mean pressure drop of <5mmHg
Severe mitral stenosis: area <1cm^2 with a mean pressure drop of >10mmHg 

Aetiology 
  • Most commonly rheumatic fever 
  • Rarely: 
    • Carcinoid syndrome 
    • Weight loss medications 

Presentation
  • Exertional dyspnoea 
  • Orthopnoea
  • Paroxysmal nocturnal dyspnoea
  • Haemoptysis – due to pulmonary hypertension causing rupture of anastomoses of bronchial veins 
  • Rarely –horseness due to compression of left recurrent laryngeal nerve 

On examination 
  • Mitral facies 
  • AF – 40% 
  • Loud S1 (or absent S1 in severe disease)
  • Opening snap 
  • Rumbling mid-diastolic murmur 
  • Occasionally – high-pitched blowing murmur at cardiac base = Graham Steell murmur
  • If pulmonary hypertension has developed: 
    • Hepatomegaly 
    • Ascites 
    • Oedema 

Diagnosis is usually by echocardiography

Management
  • Medications 
    • Diuretics/long-acting nitrates to improve dyspnoea 
    • Beta-blockers/calcium channel blockers may improve exercise tolerance 
    • Anticoagulate if AF 
  • Percutaneous mitral commissurotomy (=balloon dilation) 
    • Indicated if valve area <1.5cm^2 AND
      • symptomatic OR 
      • asymptomatic but at high risk of embolism OR 
      • haemodynamic decompensation 
    • Risks: 
      • Mortality 0.5-4% 
      • Haemopericardium 0.5-10% 
      • Embolism 0.5-5% 
      • Severe MR 2-10%
  • Surgery 


References

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Pleural effusion

/ / / / / / /
Pleural effusions can be divided into transudates and exudates. Light’s criteria is used to distinguish between them. 

Light’s criteria:
Pleural fluid is an exudate if one or more of the following criteria are met:
  • Pleural fluid protein divided by serum protein is >0.5 
  • Pleural fluid LDH divided by serum LDH is >0.6 
  • Pleural fluid LDH is >2/3 the upper limits of laboratory normal value for LDH 

Diagnostic pleural taps should ideally be done under US guidance and the fluid sent for: 
  • All cases:
    • Protein
    • LDH
    • Gram stain
    • Cytology and cell count 
    • Microbiological culture
  • Specific cases:
    • pH – if pleural infection suspected 
    • Amylase – only if oesophageal rupture or pancreatic-associated effusion suspected 
    • Glucose – useful in diagnosis of rheumatoid effusion 
    • Triglycerides and cholesterol – if effusion milky and chylothorax suspected
    • Haematocrit – if haemothorax suspected

Causes of exudative pleural effusions: 
  • Common 
    • Malignancy 
    • Parapneumonic 
    • TB 
  • Less common 
    • PE 
    • RA 
    • Benign asbestos effusion 
    • Pancreatitis
    • Post MI
    • Post CABG 
  • Rare 
    • Yellow nail syndrome 
    • Drugs
      • Methotrexate
      • Amiodarone 
      • Phenytoin 
      • Nitrofurantoin 
      • Beta blockers 
      • Penicillamine
      • Cyclophosphamide
    • Fungal infections 

Causes of transudative pleural effusions 


  • pH 
    • pH <7.2 indicates the need for drainage 
    • pH <7.3 
      • malignant effusions 
      • pleural infection
      • connective tissue diseases 
      • TB 
      • Oesophageal rupture 

  • Glucose
    • Low (<3.4mmol/l) 
      • Parapneumonic 
      • RA 
      • TB 
      • Malignancy 
      • Oesophageal rupture 
    • Very low (<1.6mmol/l) 
      • RA 
      • Empyema 

When PE's cause effusions,  the dyspneoa is often disproportionate to the size of the effusion. 
Post CABG effusions: left >right 

Management 
  • If clinically a transudate is suspected, treat cause
  • If cause unclear, perform a diagnostic tap and then treat cause as appropriate 
  • If pleural aspiration (thoracocentesis) is indicated:
    • Stop when patient develops chest discomfort or cough or when 1.5l has been drained
  • Malignant pleural effusion (symptomatic) 
    • Unless very short life expectancy, chest drain as high probability of recurrence if theraupetic aspiration alone 
    •   Consider pleurodesis once effusion drained and lung re-expanded
  • Drain large effusions in a controlled fashion to decrease risk of re-expansion pulmonary oedema


Small print gem: there needs to be around 200mls of fluid for it to be detectable on a PA CXR. 


References

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Silicosis

/ /
Silicosis is a condition caused by inhalation of silica dust resulting in lung fibrosis. 

Silica is found in sand, rock and mineral ore. Occupational exposure may occur through mining, drilling, sandblasting or quarrying. 

Crystalline/free silica (such as quartz) is a carcinogen and linked to lung cancer. 

Radiographs may show small nodules or more widespread fibrotic changes. 
Spirometry shows a restrictive pattern 



References

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Courvoisier’s sign

/ / / /
Courvoisier’s sign/law is that a palpable gallbladder in a patient with obstructive jaundice is unlikely to be due to gallstones.

Courvoisier observed that if a stone was causing the obstruction the gallbladder was likely to be fibrotic from chronic inflammation and would therefore not dilate, whereas if the obstruction was due to a cause other than a stone the gallbladder would not have been subjected to chronic inflammation so would be able to dilate and thus be palpable on examination. 

Courvoisier’s sign suggests pancreatic cancer or cholangiocarcinoma. 


References

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Pancreatic cancer

/ / /
Pancreatic cancer has a poor prognosis - 5 year survival is <5% 

Commonest pathology is ductal adenocarcinoma (>90%) and commonest location is head of pancreas.  

Presentation
  • Weight loss 
  • Pain
    • Persistent back pain suggests retroperitoneal infiltration 
  • Jaundice 
  • Adult-onset diabetes in past 2 years (5% of cases) 
  • Abdominal mass 
  • Ascites 
  • Courvoisier’s sign 
  • Migratory thrombophlebitis

Risk factors for pancreatic cancer
  • Smoking 
  • Alcohol
  • Family history
  • Peutz-Jeghers syndrome
  • HNPCC
  • Chronic pancreatitis
  • Hereditary pancreatitis
  • Diabetes mellitus

Investigation 
  • Most useful initial investigation: abdominal US
  • CT/MR/MRCP 

Management 
  • Surgical resection if appropriate
  • Stenting if required to relieve jaundice 
  • ?Chemo

References
 

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Dermatitis herpetiformis

/ /
Dermatitis herpetiformis is an autoimmune skin condition characterized by pruritic vesicles and papules most commonly on the extensor surfaces of elbows and proximal forearms. 

It is strongly associated with coeliac disease.

Diagnosis is by biopsy showing IgA deposits. 

Treatment
  • Gluten-free diet – but this alone would take around 2 years to decrease the rash
  • Dapsone or sulphonamides

Dapsone must be avoided in those with G6PD deficiency as it will cause haemolytic anaemia. 


References
 

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Coeliac disease

/ /
Coeliac disease is an autoimmune condition in which there is increased immunological responsiveness to ingested gluten resulting in villous atrophy and malabsorption. 

Gluten is found in wheat, barley and rye.

Signs and symptoms of coeliac disease: 
  • Abdominal pain 
  • Weight loss 
  • Diarrhoea
  • Steatorrhoea
  • Bloating
  • Nausea and vomiting 
  • Fatigue 
  • Unexplained iron deficiency or other anaemia 

Conditions associated with coeliac disease include:
  • Dermatitis herpetiformis (up to 90% of patients with dermatitis herpetiformis will have coeliac disease) 
  • IBS
  • Type 1 diabetes 
  • Multiple autoimmune conditions, including autoimmune thyroid disease and autoimmune liver disease 
 
Genetics
  • There is 75% concordance in monozygotic twins. 
  • HLA DQ2 is associated with most cases of coeliac disease.
  • HLA DQ8 is present in a minority of cases 

Diagnosis
  • Serology
    • Need to have a gluten-containing diet for 6 weeks prior to testing
    • IgA tissue transglutaminase (tTGA) is the first choice test (sensitivity 95%)
    • IgA endomysial antibodies (EMA) is recommended if tTGA result is equivocal
    • If tTGA is negative, test for IgA deficiency (which is associated with coeliac disease) and if present do IgG tTGA 
    • If a positive serology result is obtained, or it is negative but there is an ongoing clinical suspicion of coeliac disease, an intestinal biopsy should be performed
  • Intestinal biopsy
    • Small bowel villous atrophy 
    • Crypt hyperplasia 
    • Thickening of basement membrane 
    • Decreased numbers of goblet cells
    • Increased intraepithelial lymphocytes 
  • NB IgA or IgG anti-gliadin antibody tests are NOT recommended by NICE

Complications of coeliac disease 
  • Small bowel lymphoma (50x more common, but low absolute risk) 
  • Osteoporosis 
  • Reduced fertility
  • Functional hyposplenism 

Management 
Gluten-free diet 



Small print gem: false positive tTGA results may occur in chronic liver disease, type 1 diabetes, myeloma and monoclonal gamopathy.



 References 

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Schistosomiasis

/ / / / / / / / /
Schistosomiasis (=bilharzia) is an intravascular infection caused by the parasitic trematode worms schistosoma. It is carried by freshwater snails which release cercariae (=parasitic larvae). Human infection occurs after contact with water containing cercariae, for example after swimming. 

Schistosomiasis is common in Asia/Africa/South America. 

Presentation:
  • Early: 
    • Maculopapular rash – lasts up to 2 weeks
    • “swimmer’s itch” 
  • Acute disease (=Katayama syndrome) – occurs 16 to 90 days after infection:
    • Fever 
    • Fatigue 
    • Myalgia 
    • Diarrhoea 
    • RUQ pain
    • Cough
  • Chronic disease (granuloma formation): 
    • Splenomegaly 
    • Hepatomegaly 
    • Gastrointestinal inflammation, possibly causing haematochezia 
    • Liver fibrosis (S. mansoni, S. japonicum) 
    • Inflammation/obstruction of urinary tract with haematuria (S. haematobium)
      • Increased risk of squamous cell carcinoma of bladder 
    • Acute transverse myelitis/subacute myeloradiculopathy (S mansoni and S haematobium)
Diagnosis:
  • Examination 
  • FBC – look for eosinophilia
  • Microscopy of urine/stools
    • Characteristic eggs – they have a lateral or terminal spine so look a little like a cartoon “speech bubble” 
    • Wait 2 months since last freshwater contact as it takes this length of time for eggs to become apparent 

Treatment: oral praziquantel 


References

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Venous sinus thrombosis

/ / / / / / /
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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Felty’s syndrome

/ / /
Felty’s syndrome is a rare complication of rheumatoid arthritis. It is characterized by splenomegaly and leucopenia. 

It affects <1% of patients with RA. 

Treatment is usually with systemic immunosuppression, e.g. methotrexate. 


References

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Polycythaemia/erythrocytosis

/ / / / /
The term polycythaemia has traditionally been used to described disorders in which there is an increase in the number of red cells resulting in a persistently raised haematocrit. However, since usually only red cells are involved erythrocytosis is a more accurate term, and polycythaemia should really be reserved for polycythaemia vera which involves 3 cell lineages.

Erythrocytosis is defined as a raised haematocrit >0.52 in men or >0.48 in women for >2 months

It may be subdivided into
  • primary polycythaemia (=polycythaemia rubra vera)
  • secondary erythrocytosis
  • apparent erythrocytosis

The initial investigations on a finding of erythrocytosis should be
  • History and examination
  • FBC and blood film
  • JAK2 mutation
  • Serum ferritin
  • U&Es and LFTs

If the JAK2 is negative and there is no obvious secondary cause the next line of investigations should be:
  • Red cell mass
  • Arterial oxygen saturation
  • Abdominal ultrasound
  • Serum erythropoietin level
  • Bone marrow aspirate and trephine
  • Cytogenetic analysis
  • BFU-E culture


Primary polycythaemia

  • Presentation
    • Thrombosis
    • Pruritus after baths
    • Burning pain in distal extremities
    • Splenomegaly
    • Weight loss
    • Sweating
    • Plethora
    • Haemorrhagic events
    • Gout

  • Diagnostic criteria are:
    • If JAK2 positive (= around 95%)
      • High haematocrit (>0.52 in men, >0.48 in women) OR raised red cell mass (>25% above predicted)
    • If JAK2 negative
      • Raised haematocrit >0.60 in men or 0.56 in women OR raised red cell mass >25% above predicted AND
      • No cause of secondary erythrocytosis
      • Then either
        • Palpable splenomegaly OR
        • presence of an acquired genetic abnormality (excluding BCR-ABL) in the haematopoietic cells OR
        • 2 of
          • Thrombocytosis (platelet count >450x10^9/l)
          • Neutrophil leukocytosis (neutrophil count > 10 x10^9/l in non-smokers or 12.5x10^9/l in smokers
          • Radiological evidence of splenomegaly
          • Endogenous erythroid colonies or low serum erythropoietin

  • Management
    • Venesection – maintain haematocrit at less than 0.45
    • Aspirin 75mg od unless contraindicated
    • Cytoreduction (interferon or hydroxycarbamide = hydroxyurea) should be considered if
      • Venesection isn’t tolerated
      • Symptomatic or progressive splenomegaly
      • Thrombocytosis
      • Evidence of disease progression, eg weight loss, night sweats


Secondary erythrocytosis

  • Causes
    • Hypoxia
      • COPD
      • High altitude
      • Cyanotic congenital heart disease
    • Renal pathology
    • Erythropoietin-secreting tumours


Apparent erythrocytosis

  • Apparent erythrocytosis is defined as raised haematocrit but normal red cell mass.

  • Possible causes for apparent erythrocytosis include:
    • Physiological variant
    • Obesity
    • Smoking
    • Alcohol
    • Renal disease
    • Hypertension
    • Diuretics

  • If the apparent erythrocytosis is due to decreased plasma volume (ie dehydration) it is called relative erythrocytosis.

  • Management
    • Reduction of risk factors
    • Consider venesection if
      • Recent history of thrombosis or risk factors for thrombosis
      • Haematocrit >0.54


References

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