Symposium articles

Nocturnal epilepsies account for 10-15% of all epilepsies, and 80% of nocturnal epilepsies in adults are focal. They present a diagnostic challenge as they can be difficult to differentiate from normal movements and behaviour during sleep and also from several non-epileptic, sleep-related, motor and behavioural disorders. More than 90% of the seizures in sleep-related hypermotor epilepsy (SHE) occur during sleep. Seizures in SHE are simple partial seizures which easily wake the patient so that they will usually be able to recall the seizures, often describing auras of somatic sensations or feeling unable to breathe. SHE seizures have a rapid onset and offset, a short duration (usually < 2 min), and a stereotyped motor pattern for that individual.

Colorectal cancer is the fourth most common cancer in the UK and is the second most common cause of cancer deaths. Most cancers are thought to develop from colonic adenomas and incidence is strongly related to age. The majority of cancers are left sided and typically present with a change in bowel habit, blood in the stool or colicky abdominal pain. Rectal cancers can present with fresh red bleeding and large tumours can cause tenesmus (the intense and frequent desire to defecate, with little or no stool passed). Right-sided cancers most often present with anaemia. In both right- and left-sided cancers occasionally the patient may notice an abdominal mass or inexplicable weight loss.

The BTS/SIGN guideline specifies that the accurate measurement of oxygen saturation is essential in the assessment of all children with acute wheezing. It recommends that oxygen saturation probes and monitors should be available for use by all healthcare professionals assessing acute asthma in primary care. It is important to use the appropriate size paediatric probe to ensure accuracy. Any patient who presents to the GP practice with any features of a moderate exacerbation should be referred to an emergency department for further assessment and monitoring. 

Co-occurring severe mental illness, usually schizophrenia or bipolar affective disorder, and substance misuse is termed dual diagnosis. Mental illness and its consequences may lead to substance misuse as a coping strategy. Substance misuse can lead to mental health problems, either by triggering a first episode in a susceptible person, or by exacerbating an existing disorder. However, substance misuse itself is unlikely to be the sole cause of a severe and enduring mental illness.

Urinary retention is the most common urological emergency and more than 95% of cases occur in men. Acute urinary retention (AUR) is defined as the sudden inability to pass any urine voluntarily associated with a painful, palpable or percussable bladder. In chronic urinary retention (CUR) there is a non-painful bladder, which remains palpable or percussable after the man has passed urine, with a post-void residual volume > 300 ml. In acute on chronic urinary retention no urine can be voluntarily passed but the condition is relatively painless and the residual volume on catheterisation is > 1.5 litres.

Endometriosis affects around one in ten women of reproductive age in the UK. NICE guidance highlights the importance of symptoms in its diagnosis. A normal abdominal or pelvic examination, ultrasound, or MRI should not exclude the diagnosis. Endometriosis should be suspected in women and adolescents who present with one or more of: chronic pelvic pain, significant dysmenorrhoea, deep dyspareunia, period-related or cyclical GI or urinary symptoms, or infertility. If endometriosis is suspected or symptoms persist, patients should be referred for further assessment.

Both visible (VH) and non-visible haematuria (NVH) may herald serious pathology e.g. malignancy or vasculitis. All patients with VH or symptomatic NVH should have urinalysis, urinary protein estimation (albumin:creatinine or protein:creatinine ratio), and a renal function test. These should also be requested if asymptomatic NVH persists, i.e. in two out of three samples over 6-8 weeks.

Pulmonary rehabilitation is a multifaceted programme of exercise and education that aims to improve breathlessness, exercise capacity, and quality of life, and aid self-management. Patients with chronic respiratory failure, those on long-term or ambulatory oxygen and patients with anxiety and depression can all benefit from rehabilitation. It is one of the most beneficial and cost-effective treatments for COPD and should be considered a fundamental component of disease management rather than an option.

The spondyloarthritis group is divided into two main subgroups: axial spondyloarthritis and peripheral spondyloarthritis. These may exist as separate entities or coexist in the same patient. Classically, axial spondyloarthritis presents with insidious onset inflammatory lower back pain, which is typically worse in the morning and after rest, and improves with activity. Peripheral spondyloarthritis can present with peripheral joint pain and/or swelling, swelling of the digits (dactylitis), tendon and entheseal pain that is not secondary to a mechanical cause. Early referral of patients with suspected spondyloarthritis to specialist care is strongly recommended as this can improve long-term outcomes.

Cigarette smoking is overwhelmingly the most important risk factor for COPD. In some cases, other factors such as occupation, passive exposure to inhalants and fetal nutrition/low birthweight are also important. The diagnosis should be suspected in symptomatic patients with risk factors, usually cigarette smoking, aged 40 years or above, albeit a majority of people with COPD present when considerably older. The 2017 GOLD guideline recommends that management should be focused on two objectives. First, to relieve symptoms of breathlessness (assessed using the MRC dyspnoea scale) and improve quality of life (assessed by the COPD Assessment Test). Second, to reduce risk assessed by the number of exacerbations and hospitalisations in the previous year.

Cardiovascular disease (CVD) affects seven million people in the UK alone. Modifiable risk factors for CVD include smoking, abnormal lipid profile, hypertension, diabetes, abdominal obesity, psychosocial factors, diet, alcohol consumption, and lack of physical activity. The INTERHEART study concluded that these factors account for more than 90% of the risk of MI worldwide. Well validated studies have suggested that QRISK2 is a better predictor of a patient’s ten-year risk of CVD compared with the traditionally used Framingham equation.

Complex regional pain syndrome (CRPS) is a chronic debilitating painful condition comprising unremitting pain, sensory, sudomotor, vasomotor and motor abnormalities in the affected extremity. It has a peak incidence in the 55-75 age group and there is an association with asthma and migraine. CRPS is three times more common in women than men. CRPS should be suspected in any patient presenting with persistent pain in an extremity beyond the expected period of tissue healing following an acute injury, sprain, fracture or surgical procedure. Severe pain in a glove or stocking distribution is the predominant symptom in > 90% of cases.

The prevalence of chronic pancreatitis is variable, with estimates between 4 and 52.4 per 100,000. A mismatch exists between reported incidence and prevalence in many studies suggesting chronic pancreatitis is under recognised. One cause for this mismatch is that once diagnosed many patients are lost to secondary care follow-up. Therefore, although a GP may only see two new cases during their career they are likely to encounter patients requiring recurrent consultations.

Early recognition, referral and treatment are essential to achieve good outcomes for children and adolescents with eating disorders. Eating disorders have the highest mortality of all psychiatric conditions. However, provided there is access to early and evidence-based treatment, the majority of patients who are diagnosed with an eating disorder before the age of 18 will make a full recovery. Overall, outcomes in this age group are better than in adults. All children and adolescents with a possible eating disorder should be referred to their local specialist community-based eating disorder service for children and young people as soon as possible.

It is estimated that up to 80% of patients with Parkinson’s disease will eventually develop cognitive impairment over the course of their illness. Even at the time of diagnosis, cognitive impairment has been reported in 20-25% of patients. Commonly affected domains are executive function, visuospatial ability and attention control. In addition, patients with Parkinson’s disease dementia may present with deficits in language function and verbal memory.