Rare conditions conditions...Patients with severe cerebral palsy will often have carers present who are familiar with their normal state. It is likely that they are experienced in

East of England Ambulance ServiceNHS T rust

Rare conditionsThis document provides clinicians with a brief synopsis of a range of rare medical conditions.

As a clinician you may only come across these conditions once in your career, so this document is designed to assist you with your clinical decision making.

Written, produced and designed by the East of England Ambulance Service NHS Trust

Contents

Rare conditions 2

Addison’s disease / Addisonian crisis / adrenal crisis 2

Autonomic dysreflexia 3

Brugada syndrome 4

Cauda equina syndrome 5

Cerebal palsy 6

Delirium tremens 7

Diabetes insipidus 8

Factor V Leiden 9

Guillian-Barre syndrome 10

Kawasaki disease 11

Long QT syndrome 12

Lupus 13

Marfan syndrome 14

Myasthenia gravis 15

Neutropenic sepsis 16

Sick sinus syndrome 17

Thalassaemia 18

Wernicke encephalopathy 19

Wolff-Parkinson-White syndrome 20

Addison’s disease / Addisonian crisis / adrenal crisis

Rare conditions

What is it?

Addison’s disease is a disease where the adrenal gland is damaged and so cannot respond to crisis situations where an increase in adrenaline or the steroid cortisol is required.

This means that when the patient is unwell (in particular if they are suffering from vomiting or diarrhoea, infection, trauma or other conditions that might cause shock, or if they are non-compliant with their medication), they will be unable to maintain their heart rate and blood pressure in the same way as someone without the disease.

These patients should have hydrocortisone tablets to take in situations where they have low level vomiting or diarrhoea, and hydrocortisone injections for situations where they feel seriously unwell.

What does it look like?

The patient will know they have Addison’s disease or another condition that can cause adrenal crisis. Initial symptoms of crisis will probably include nausea and vomiting with potential weakness, fatigue, and dizziness. This can rapidly lead to vascular collapse, confusion, reduced level of consciousness, coma and death.

What should we do about it?

If the patient is suffering from any of the conditions noted above then they should be given an IV hydrocortisone injection of 100mg. Fluid boluses of 0.9% saline may also be required to maintain blood pressure.

These patients should be transported to hospital for further treatment and monitoring, even if they appear to be only slightly unwell.

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Autonomic dysreflexia

What is it?

Patients with a spinal cord injury at T6 or above can suffer from this. It is when a stimulus below the site of the cord injury leads to sympathetic nervous system activation that the brain cannot override. It affects around 90% of tetraplegic and high paraplegic patients at some time in their lives. Untreated, it can lead to intracranial bleeding, convulsions, myocardial ischaemia and sudden death.

The most common causes are:• bladder and bowel irritation• ingrown toenail• fracture below site of spinal injury• pressure sores• burns, scalds, sunburn• urinary tract infection (UTI)• kidney stones• pregnancy, contractions, childbirth• deep vein thrombosis (DVT) and pulmonary

embolism (PE).


Patients with high spinal cord injuries should have been warned about this condition. Symptoms include nasal congestion and skin flushing.

Other symptoms can include:• severe hypertension• pounding headache• blurred vision• vasodilation with vasoconstriction above site

of spinal cord injury• sweating above spinal cord injury site• goosebumps above spinal cord injury site• bradycardia, cardiac arrhythmias including

AF.

What should I do about it?

This is a medical emergency. • Sit the patient upright and loosen tight clothing to try to assist blood to pool in lower legs to reduce blood pressure• Remove stimulus if possible• If BP remains above 150 systolic, GTN is indicated. You should seek clinical advice before undertaking this as it is outside the scope of the JRCALC clinical guidelines• The patient may well have drugs to take in

case of emergency, so you should use these• Transport the patient rapidly to hospital with

a pre-alert message.

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Brugada syndrome

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What is it?

A disorder characterised by sudden death associated with one of several ECG patterns, characterised by incomplete right bundle branch block and ST segment elevation in the anterior leads and J waves.


Brugada can cause: • sudden syncope often without warning symptoms• cardiac arrest• the patient to be symptom free but ECG shows ST segment elevation in leads v1 - v3• atrial fibrillation• fever.

What should we do about it?

The only effective treatment is the use of a defibrillator. Where you suspect a patient of having Brugada syndrome you should transport them to hospital.

Patients who suffer with sudden syncope without the usual prodromal warning symptoms should have a 12 lead ECG undertaken to assess for signs of Brugada syndrome and other cardiac arrhythmias that may have caused the faint.

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Cauda equina

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What is it?

Pressure on the bottom of the spinal cord due to a back injury causing compression of the cord. As well as being caused by trauma, such as a slipped disc, it can also have a non-traumatic cause such as a primary spinal tumour or cancer that has spread to the spine.


In addition to the usual symptoms of a back problem, e.g. lower back pain, sciatica etc., red flags for cauda equina are any of the following:• sphincter, bladder or bowel disturbance including urinary retention• gait disturbance• numbness around the anal and sacral area• bilateral lower limb weakness.


Immediately transport the patient to hospital for surgery.

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Cerebral palsy

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What is it?

Cerebral palsy is the leading cause of childhood disability, affecting function and development.


The severity of symptoms varies but includes:• widespread mental developmental delay• eye and hearing impairments• speech and language disorder• wide spread motor developmental delay• abnormal muscle tone, often with either increased or decreased resistance to passive movement• weakness, which can lead to paralysis of the legs• reduced growth and failure to thrive• seizures.


Patients with severe cerebral palsy will often have carers present who are familiar with their normal state. It is likely that they are experienced in dealing with the patient’s condition and if they have called an ambulance this suggests that something unusual has occurred. This should prompt the clinician to have a low index to transport the patient to hospital, especially given the difficulty in communication with the patient and determining a normal baseline for observations, making adequate safety netting difficult.

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Delirium tremens

What is it?

A condition brought on by alcohol withdrawal, usually one to three days after withdrawal starts.


In addition to the usual effects of alcohol withdrawal (anxiety, restlessness, insomnia, tremor, sweating, tachycardia, ataxia, pyrexia etc.), patients with delirium tremens present with:

• visual or tactile hallucinations• marked tremor• disorientation• agitation• delusions• confusion.

Death occurs from arrhythmias secondary to acidosis, electrolyte disturbance, or alcohol related cardiomyopathy, infection or cardiovascular collapse.


It is a medical emergency with significant mortality risk. Monitor blood glucose, treat fits with diazepam and transport to hospital for inpatient monitoring.

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Diabetes insipidus

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What is it?

A condition where the patient is deficient in the hormone vasopressin (antidiuretic hormone) or insensitive to its action.


Excess urine and needing to pass urine at night, leading to excessive thirst as a result. The increased volume of urine produced can result in severe dehydration if the patient is unable to drink large quantities of liquid.


Be aware that this is a different condition from normal diabetes mellitus and does not involve blood glucose.

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Factor V Leiden

What is it?

A genetic disorder that predisposes carriers to venous thrombosis. It is found in 3-5% of healthy individuals in the west and 20% of those with venous thrombosis.


There are no outward signs apart from the increase in venous thrombosis.

The risk of venous thrombosis is increased in women with Factor V Leiden who are pregnant or taking oral contraceptives.


In patients with known Factor V Leiden you should have a high index of suspicion of venous thrombosis, for example DVT, PE, CVA, miscarriage etc., and therefore transport those patients to hospital for further assessment.

Rare conditions 10

Rare conditions

What is it?

A polyneuropathy with a probable auto-allergic basis. Often starts to develop a few weeks after surgery, flu vaccination or an infection.


Symmetrical muscle weakness and numbness spreading from the distal muscles to proximal muscles over several days. Symptoms can include muscle tenderness, tingling in fingers and toes, and sometimes autonomic nervous system disturbance (hypo/hypertension, tachy/bradycardia). Trunk, respiratory and cranial muscles are also commonly affected.

Mild cases recover spontaneously, whereas severe cases lead rapidly (hours to days) to paralysis, respiratory failure and respiratory arrest.


If Guillian-Barré syndrome is suspected, transport the patient to hospital immediately for further assessment and treatment.

Guillian-Barré syndrome

Rare conditions 11

What is it?

It is a disease of unknown origin, probably infectious but with autoimmune and genetic elements that affect children.


The child will have a prolonged fever of at least five days.

The most common classical features in addition to fever are:• bilateral conjunctivitis• anterior uveitis (inflammation of the iris of the eye)• perianal erythema.

Other classic features are:• redness and swelling on hands and feet• red coloured tongue and lip fissures• liver, kidney and GI dysfunction• myocarditis and pericarditis• swollen lymph glands, often just one cervical node.

Other symptoms are non-specific but include:• irritability• vomiting• reduced eating and drinking• cough• diarrhoea• runny nose• weakness• abdominal pain• joint pain.

The fever can vary but can have spikes of 39-40˚C.


All children with a fever that has lasted five days or more, or those with a fever of shorter duration who are displaying classical features, should see a doctor to rule out Kawasaki disease.

Kawasaki disease

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Long QT syndrome

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What is it?

A syndrome where the QT phase of the ECG is elongated. There are a number of causes, including:• congenital• electrolyte problems – hypokalaemia, hypomagnesaemia, hypocalcaemia• drugs – class 1a and class 3 antiarrhythmic drugs like quinidine and sotalol, tricylclic anti-

depressants like amitriptyline, phenothiazine, or drugs like chlorpromazine, erythromycin, terfenadine, astemizole

• bradycardia• mitral valve prolapse• acute MI• prolonged long term fasting• CNS diseases such as dystrophia myotonica.

It can cause cardiac arrhythmias, including torsades de pointes, and sudden death.


There is a long OT interval on the ECG equal to or greater than 0.44 seconds. This sometimes only appears between or immediately preceding episodes of tachycardia.


Patients are at high risk of sudden cardiac death. Therefore when treating patients with known or suspected long OT syndrome who have fainted, felt dizzy, had palpitations, or had a short episode of chest pain or shortness of breath you should have a low threshold for transporting them to hospital for further assessment and admission. This is the case even if they are young and otherwise fit and healthy, or if their symptoms would not be concerning in a patient who does not have the condition.

Acute management in hospital would involve correcting any electrolyte disturbances, stopping any drugs causing it, pacing to maintain a normal heart rate, and drug therapy.

Hospital management of congenital long QT syndrome includes beta blockers, a pacemaker and cardiac surgery.

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LupusWhat is it?

Lupus is a chronic autoimmune disease that can affect almost any organ system.


Its presentation is highly variable and symptoms may come and go.

Common clinical symptoms include:• malar rash (a facial rash)• oral ulcers• joint pain• photosensitivity• kidney impairment• seizures• haemolytic anaemia (anaemia due to

red blood cell loss)• fever• thrombocytopenia (decreased platelets).

Other acute manifestations include:• fatigue, fever, joint pain, weight

change• renal failure, kidney disease• seizures• psychosis• pleurisy, pleural effusion, pneumonitis• nausea, dyspepsia, abdominal pain• pericarditis, myocarditis• anaemia.


Have a high index of suspicion of the above acute problems when presented with a patient who has lupus and is suf-fering from pain, fitting, who is ‘acting strangely’, has hypotension, is generally unwell or short of breath, or has chest pain.

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Marfan syndrome

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What is it?

Marfan syndrome is a genetic disorder of the connective tissue, causing widespread deformities.


Patients have abnormally long, thin fingers, toes and limbs in relation to their torso, and a curved spine.

Patients are at increased risk of aortic aneurysm, mitral valve prolapse, detached retinas and dislocation of the lens of the eye.

What should you do about it?

Be aware of the greater risk of aortic aneurysm; if they present with lower back or chest pain, regardless of age, consider taking them to hospital. In this case, you should have a lower index to take patients to hospital than if they did not have the disease.

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Myasthenia gravisWhat is it?

An auto-immune disease causing a deficit at neuromuscular junctions, leading to painless weakness in muscles with muscle fatigue. Its cause is unknown, and it fluctuates in severity.


It affects the eye, mouth and throat muscles and proximal limb muscles. The most common initial presentations are blurred vision, drooping eyelid, double vision or slurred speech. Cranial nerves tend to be involved more than limb muscles, and weakness is asymmetrical.

Crisis can present with severe muscle weakness with respiratory failure, possibly requiring ventilator support.


If the patient presents in crisis, requiring ventilator support, then give BVM ventilations and transport to hospital. In suspected mild cases refer the patient to their GP for further investigation.

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Neutropenic sepsis

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What is it?

Neutropenic sepsis is caused by a condition known as neutropenia, in which the number of white blood cells (called neutrophils) in the blood is low. Neutrophils help the body to fight infection. People having anti-cancer treatment, particularly chemotherapy and more rarely radiotherapy, can be at high risk of neutropenic sepsis. This is because these treatments can temporarily lower the number of neutrophils in the blood. Some anticancer treatments are more likely than others to cause a temporary period of neutropenia.

Mortality ranges from 2% - 21% from neutropenic sepsis.


A patient who has recently undergone chemotherapy treatment, and has a raised temperature higher than 38˚C. It can also present with other signs or symptoms consistent with clinically significant sepsis.


Patients should have been alerted to this condition and carry a card. Open access to a cancer ward at their local hospital is common and admission should be arranged immediately by ambulance either directly to the ward or via the emergency department.

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Sick sinus syndromeWhat is it?

A generalised abnormality of cardiac impulse formation causing sinus node dysfunction, so the atrial heart rate is either too low or too high to maintain adequate cardiac output. There are a range of causes, including cardiac degeneration, cardiomyopathy, MI, some cancers, pericarditis, drugs such as digoxin, beta blockers and calcium channel blockers and congenital abnormalities.

The average patient age is 68 and approximately one in 600 cardiac patients over the age of 65 suffer from sick sinus syndrome. Bradycardia secondary to sick sinus syndrome is the most common reason for pacemaker implantation.


Diagnosis without ECG can be difficult due to the often slow process of the disease, and non-specific symptoms such as palpitations, fainting, dizziness, fatigue and weakness, confusion, memory loss, irritability, waking at night, digestive problems and angina like chest pain.

ECGs can show:• prolonged atrial pauses• inappropriate bradycardia• inappropriate tachycardia• alternation between bradycardia and tachycardia.


Symptomatic patients often require a dual chamber pacemaker. Patients with bradycardias can be treated with atropine as per clinical guidelines. Transcutaneous pacing is also recommended if a suitable critical care resource is available to you.

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Thalassaemia

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What is it?

A genetic disorder causing reduced red blood cell production and haemolysis (rupture of red blood cells).


Depending on the type of thalassaemia, the patient may have mild, moderate or severe anaemia, sometimes requiring blood transfusions. Patients may have an enlarged spleen and bone deformities, along with recurrent leg ulcers, gallstones and infections.

Iron overload caused by repeated transfusions can lead to damage to the endocrine glands, liver, pancreas and heart from adolescence.

Death is usual at 20-30 years old due to cardiac iron overload.


Be aware of the increased risk of the above problems and thus have a lower index of suspicion of transporting these patients to hospital for further assessment and treatment.

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What is it?

An acute thiamine deficiency which normally occurs in alcoholics.


• Congitive changes: altered level of consciousness and confusion• Eye signs: nystagmus, eye muscle weakness, fixed pupils• Ataxia: broad based gait, slurred speech, balance problems.


You should be aware that alcoholics may suffer with this; if they display symptoms then transport them to hospital for further assessment as thiamine injections will be required.

Wernicke encephalopathy

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Wolff-Parkinson-White syndrome

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What is it?

It is an atrioventricular reciprocating tachycardia. Patients have a second conduction pathway from the atria in the heart to the ventricles besides the usual bundle of His. This means that the patient can develop an extremely rapid heart rate.


When having an episode of tachycardia, patients will have a very fast heart rate and associated symptoms of cardiac insufficiency (chest pain, palpitations, dizziness, hypotension etc.) whilst the tachycardia continues.

When patients are not having an episode of tachycardia, their ECG may look ‘pre-excited’ (depending on where the accessory pathway is) and they may have a short PR interval and possible wide QRS complex.


In patients suffering acutely with a tachycardia, management should follow the standard process for the tachycardia presented, e.g. narrow complex or broad complex.

In patients who are currently asymptomatic and have a narrow PR interval, and where you suspect they may have undiagnosed WPW, they should be transported to hospital for further assessment.

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The creation of this document was inspired by Adam Cash, a Trust patient who died as a result of Addison’s disease; at the time limited information about the illness was available to the ambulance crew that attended to him.

Written, produced and designed by the East of England Ambulance Service NHS Trust

Tara Crabtree, Internal Communications [email protected]

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Rare conditions conditions...Patients with severe cerebral palsy will often have carers present who are familiar with their normal state. It is likely that they are experienced in