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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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Narcolepsy

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Narcolepsy is excessive daytime sleepiness, possibly accompanied by features such as: 
  • Cataplexy (=brief attacks of sudden loss of skeletal muscle tone and power, often in response to emotion)
  • Irresistible sleep attacks
  • Hyponagogic hallucinations 
  • Sleep paralysis 

It is believed that narcolepsy with cataplexy is due to loss of hypocretin-containing neurons in the hypothalamus. 

Onset usually in teens/20s 
Male predominance 
Increased risk if a family member has the disorder 

Associations with 
  • HLA DQB1 
  • Streptococcal infection
  • Heavy metal exposure 
  • H1N1 vaccination or infection

Management 
  • Narcolepsy
    • DVLA must be informed – usually able to continue driving cars (if controlled) but not bus/lorry 
    • Good sleep hygiene 
    • Medication 
      • Amphetamine-like stimulants such as dexamphetamine
      • Modafinil 
      • Sodium oxybate 
  • Cataplexy 
    • Antidepressant drugs such as clomipramine or SSRIs 



References 

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Saddle nose deformity

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Wegener’s granulomatosis

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Wegener’s granulomatosis is a small and medium vessel necrotizing granulomatous vasculitis which predominantly affects the upper airways, lungs and kidneys but can affect any organ system. 

Possible features include:
  • Respiratory symptoms – 90%
    • Cough 
    • Pleuritis 
    • Haemoptysis 
    • Rhinorrhoea 
    • Epistaxis 
  • Sinusitis 
  • Subglottic stenosis -20% 
  • Saddle-shaped nose 
  • Perforation of the nasal septum 
  • Glomerulonephritis – develops in 80% at some point

Investigations: 
  • Biopsy 
    • Necrotising granulomatous vasculitis with neutrophilic infiltrates
  • CXR 
    • Bilateral nodular infiltrates 
    • Alveolar haemorrhage 
  • ANCA
    • c-ANCA – positive in 90%
    • p-ANCA – positive in 10% 

Treatment: steroids and cyclophosphamide, with co-trimoxazole to decrease opportunitistic infections 

5 year survival with treatment is around 76% 


Small print gem: Long-term treatment with cyclophosphamide is associated with increased risk of bladder cancer and myelodysplasia 



References

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Obstructive sleep apnoea/hypopnoea syndrome

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Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is a condition in which a person experiences repeated episodes of apnoea/hypopnoea because of closing of the pharyngeal airway during sleep (NICE definition) 

Symptoms 
  • Excessive daytime sleepiness 
  • Snoring 
  • Morning headaches 
  • Nocturia 
  • Sexual dysfunction 
  • Impaired cognition 

Risk factors for OSA
  • Increasing age
  • Obesity 
  • Male gender 
  • Enlarged tongue or tonsils 

Conditions associated with OSAHS 

Diagnosis 
  • History 
  • Sleep study 
    • Severity graded on the apnoea/hypnoea index (AHI) 
      • Mild: AHI 5-14 
      • Moderate: AHI 15-30 
      • Severe: AHI >30 

Management 
  • Lifestyle changes 
    • Weight loss 
    • Stop smoking 
    • Decrease alcohol 
  • Dental devices to keep upper airway open (mild to moderate OSA only)
  • CPAP 
  • Surgery should only be as part of a clinical trial 

OSAHS increases: 
  • Depression 
  • Hypertension 
  • Increased motor accidents 


References

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Hypothermia

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Mild hypothermia: core body temperature < 35C
Severe hypothermia: core body temperature < 28C 

Signs associated with moderate hypothermia include: 
  • Bradycardia, atrial arrhythmias 
  • Hypotension 
  • Hypoventilation
  • Dilated pupils 
  • Hyporeflexia 

Signs associated with severe hypothermia include: 
  • Ventricular arrhythmias or asystole 
  • Coma 
  • Unreactive pupils 
  • Pulmonary oedema 

Investigations
  • ECG
    • J wave
    • arrhythmias 
  • ABG
    • Metabolic acidosis
  • Bloods 
    • FBC - ? thrombocytopenia due to hepatosplenic sequestration 
    • Coagulation – hypothermia can cause coagulopathy 

Treatment:
  • Mild to moderate hypothermia: passive rewarming 
  • Severe hypothermia: active rewarming 

Small print gem: neuroleptic drugs can predispose people to hypothermia as they disrupt hypothalamic functioning and hence thermoregulation. 


References

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Pseudomembranous colitis

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Pseudomembranous colitis is an acute infective colitis which occurs when changes in the bowel flora allows overgrowth of clostridium difficile and thus production of its toxins (especially toxin A and B)

Presentation
  • Watery diarrhoea – may be bloody
  • Fever
  • Abdominal pain
  • Raised WCC

Risk factors
  • Broad-spectrum antibiotic use, especially:
    • Clindamycin
    • Second and third generation cephalosporins
    • Fluoroquinolones
    • Carbapenem
  • Parenteral nutrition
  • Diabetes
  • Renal failure
  • Liver failure
  • Cystic fibrosis
  • Upper GI surgery
  • Malnutrition

Diagnosis
  • Cytotoxin assay
  • Stool culture
  • Endoscopy
    • Cream/green pseudomembrane
  • AXR
    • Mucosal thickening
    • ‘thumbprinting’ (= wide transverse bands associated with haustral fold thickening)
  • CT abdomen
    • Wall thickening
    • ‘accordion sign’
    •  ‘target sign’

Complications of pseudomembranous colitis
  • Hypokalaemia
  • Renal failure
  • Hypoproteinaemia
  • Peritonitis
  • Toxic megacolon

Management
  • Oral vancomycin (10 to 14 days) plus
    • ? IV metronidazole
    • ?? oral rifampicin
    • ?? IV immunoglobulin
  • Colectomy in extreme cases


References

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Myocarditis

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Myocarditis is inflammation of the myocardium.

Presentation is highly variable and includes:
  • Prodrome of flu-like symptoms or gastroenteritis 
  • Chest pain
  • Collapse 
  • Heart failure 

Causes of myocarditis include:

Myocarditis may be classified by its cell type:
  • Lymphocytic (commonest; just over half of cases) 
  • Granulomatous
  • Giant cell 
  • Eosinophillic 

Investigations
  • Bloods
    • Troponin/CKMB may be raised 
  • ECG may show 
    • Abnormal ST/T waves
    • Conduction disturbances
  • Echo findings may include
    • Transient wall thickening 
    • Reduced wall motion 
    • Pericardial effusion 
  • Cardiac MRI
  • Cardiac catherisation with endomyocardial biopsy
  • Nuclear imaging 

Management
  • Treat underlying cause 
  • Support circulation as required 

Complications
  • Dilated cardiomyopathy 
  • Sudden cardiac death 



References

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Prader-Willi syndrome

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Prader-Willi syndrome is an inherited disorder characterized by: 
  • Obesity
  • Hypotonia
  • Hypogonadism 
  • Short stature 
  • Mental retardation

Ironically, despite being characterized by obesity, babies with Prader-Willi have feeding problems and fail to thrive in infancy. 

The classical phenotype of a patient with Prader-Willi Syndrome is: 
  • Obese 
  • Short stature 
  • Almond-shaped eyes 
  • Narrow bifrontal diameter 
  • Downturned angles of the mouth 
  • Small hands and feet
  • Straight ulnar border of hands 

Prader-Willi Syndrome is caused by a deletion/disruption of gene(s) on chromosome 15. 

Diagnosis is by genetic analysis. 

Management
  • Strict control of food intake
  • Growth hormone replacement


References

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Acanthosis nigricans

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Acanthosis nigricans is characterized by velvety, brown-black plaques, typically located in the axilla and neck. 

It is associated with: 

Management
  • Treat underlying cause 
  • ? retinoids 


References

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Side effects of corticosteroid treatment

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Side effects of corticosteroid treatment include:

  • Musculoskeletal 
    • Osteoporosis 
    • Fractures – 12% 
    • Avascular necrosis of femoral head (high doses) 
    • Proximal myopathy
  • Gastrointestinal 
    • Peptic ulceration
    • Acute pancreatitis 
  • Endocrine 
    • Weight gain
    • Diabetes 
    • Adrenal suppression 
    • Hypercholesterolaemia/hyperlipidaemia 
    • Menstrual disturbances 
  • Skin 
    • Acne 
    • Skin bruising/thinning 
    • Hirsutism 
  • Other 
    • Sleep disturbance 
    • Mood disturbance 
    • Cataracts -15% 
    • Glaucoma 
    • Hypertension
    • Increased susceptibility to infection 

Adrenal suppression may occur after just 5 days of high dose steroids, and can occur even at low doses after prolonged use. 
Significance of adrenal suppression: 
  • When stopping dose should be tapered rather than abruptly stopped 
  • Increased dose is required during illness 
  • Dose required during induction for surgery and increased dose afterwards


References

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Polymyalgia rheumatica

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Polymyalgia rheumatica is an inflammatory rheumatic disease characterized by: 
  • Bilateral shoulder and/or pelvic girdle aching 
  • Morning stiffness >45 minutes duration 
  • Raised ESR
  • Systemic symptoms
    • Low grade fever 
    • Weight loss 

Average age of onset is >70. It is very rare in those <50.
Females > males (3:1) 
People of north European ancestery more likely to be affected.
There is evidence of a link to HLA DR4 

Treatment 
  • Oral prednisolone – 15mg OD – tends to improve condition dramatically within days. Taper dose to lowest level that works. 
  • Limit risks of adverse effects of steroid treatment, e.g. with osteoporosis prophylaxis. 
  • IM methylprednisolone may be used in milder cases and may reduce the risk of steroid-related complications. 

Complications associated with PMR:

References

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Sickle Cell Disease

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Sickle cell disease is an autosomal recessive condition caused by an abnormal form of haemoglobin, HbS, which polymerises into long crystals when it deoxygenates, resulting in the sickling of red blood cells. This abnormality is caused by a glutamine to valine substitution on the beta globin chain.  

Genotypes include:
  • HbSS = sickle cell anaemia = commonest form in UK and most severe 
  • HbSC = SC disease = mild anaemia 
  • HbS beta thalassaemia trait 

Carriers are asymptomatic and have increased resistance to malaria.

Diagnosis of sickle cell disease is by electrophoresis. 

Complications of sickle cell disease include:
  • Simple pain crisis 
  • Sequestatration crisis 
    • Acute chest syndrome
      • Breathlessness, chest/back pain, fever, cough 
      • Possible causes include sequestatration, infection and pulmonary vascular occlusion 
    • Splenic sequestration 
      • Eventualy spleen becomes atrophic --> increased risk of infection
  • Aplastic crisis 
    • Classically due to parvovirus
  • Haemolytic anaemia 
  • Priapism – up to 8% of male patients
  • Avascular necrosis of the hip 
  • Renal failure – up to 5% 
  • Eye problems 
    • Retinopathy 
    • Retinal detachment 
  • Infections 
  • Splenomegaly 
  • Gallstones 
  • Stroke 
  • Pulmonary hypertension
  • Iron overload (due to recurrent transfusions) 

Precipitants of a sickle cell crisis: 
  • Infection
  • Dehydration 
  • Stress
  • Hypoxia

Management 
  • Transfusion 
    • Blood must be matched for minor blood group antigens Kell and Rh
  • Hydroxyurea
    • Increases production of HbF
  • Prophylactic antibiotics
  • Acute pain management: Oral/IV analgesia as per pain ladder; morphine/diamorphine/PCA may be needed 


References

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Oesophageal carcinoma

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Oesophageal carcinoma has an incidence of 9.6/100 000 and a very poor prognosis – 5 year survival is less than 10%. 

2/3rds of cases are in over 65s. 

Presentation tends to be dysphagia. 

In the UK the commonest type is adenocarcinoma.
Identified risk factors for oesophageal adenocarcinoma include: 
  • Reflux/Barrett’s oesophagus 
  • Hiatus hernia
  • Obesity 
  • Diet lacking in fruit and vegetables 
  • Fatty diet 
  • Smoking 
  • Male gender 

Worldwide the commonest type of oesophageal cancer is squamous cell.  It is especially common in China and Iran.
Identified risk factors for oesophageal squamous cell carcinoma include: 
  • Diet lacking in fruit and vegetables 
  • Fatty diet 
  • Smoking 
  • Male gender 
  • Alcohol
  • Achalasia 
  • Low socioeconomic status 
  • Plummer-Vinson syndrome 
  • Nutritional deficiencies – zinc, magnesium, riboflavin, nicotinic acid 

Adenocarcinomas are usually located in the distal third of the oesophagus (94%) while squamous cell carcinomas are usually found in the middle and upper third. 

Management is oesophagectomy + ?chemo/radiotherapy 


References

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Lymphadenopathy

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Causes of generalized lymphadenopathy
  • Neoplastic 
  • Infective 
    • EBV 
    • CMV
    • HIV
    • TB
    • Toxoplasmosis
  • Medications 
    • Allopurinol 
    • Atenolol
    • Penicillin 
    • Phenytoin
    • Quinidine 
  • Rheumatological
  • Storage diseases 

Causes of local lymphadenopathy
  • Local infection
  • Neoplasia

Small print gems: 
Virchow's node - left supraclavicular node associated with intraabdominal cancer
Sister Mary Joseph node - umbilical node associated with intraabdominal cancer



References

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Familial adenomatous polyposis

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Familial adenomatous polyposis is a condition in which multiple polyps (up to tens of thousands) develop in the GI tract followed almost inevitably by the onset of colorectal cancer. 

It is inherited in an autosomal dominant fashion but up to 30% of cases may be new mutations with no family history. 

The mutation is in the tumour suppressor gene APC (adenomatous polyposis coli) on chromosome 5.  

Management is with total colectomy and ileorectal anastomosis before cancer develops. 

Patients still tend to have a lower life expectancy than the general population due to their propensity for duodenal and other upper GI cancers. 


References

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Primary biliary cirrhosis

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Primary biliary cirrhosis is an autoimmune cholestatic liver disease which is diagnosed when 2 of the following 3 criteria are met: 
  • At least 6 months biochemical evidence of cholestatic liver disease 
  • Anti-mitochondrial antibody (AMA) positive 
  • Characteristic histological features on liver biopsy 
    • destruction of small and medium sized bile ducts
    • non-supprative cholangitis

Females > males, 10:1 Onset usually around 5th decade of life

Around 2/3 of cases of primary biliary cirrhosis are diagnosed on the basis of blood tests, with the patient being otherwise asymptomatic.  Other presentations are of pruritis (classically worse at night) and fatigue.

Blood tests 
  • LFTs show 
    • Raised ALP and gammaGT 
    • ALT, AST and bilirubin may be raised
  • Raised PT only in advanced disease 
  • AMA – 90% sensitive, 95% specific
  • ANA – non-specific, present in 30%

Complications 
  • Cirrhosis
    • If cirrhosis present increased risk of hepatocellular carcinoma 
  • Portal hypertension 
  • Osteoporosis (1/3) 

Treatment
  • ursodeoxycholic acid 
  • liver transplant
  • osteoporosis prophylaxis 


References

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Thrombocytopenia

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Normal platelet count is 150x10^9 to 400x10^9. 

Presentation of thrombocytopenia may include epistaxis, bruising or menorrhagia.

Causes of thrombocytopenia

Treatment depends on the cause.


Small print gem: platelets have a life span of 7 to 10 days


References

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