Symposium articles

Asthma is the most common chronic respiratory condition affecting children in the UK. There is no single gold standard test to confirm the diagnosis and both overdiagnosis and underdiagnosis are common. Asthma should be suspected in any child presenting with episodes of wheeze, especially recurrent episodes of wheeze. Clinical diagnosis alone often results in misdiagnosis; all children from the age of five years under investigation for asthma in primary care should have access to spirometry, bronchodilator reversibility and FeNO testing.

If left untreated psoriatic arthritis (PsA) can result in progressive, irreversible joint damage causing chronic pain and disability. It is a chronic, autoimmune inflammatory condition that can affect up to 30% of patients with psoriasis. PsA is a multisystem disease affecting other organs such as the eyes, gut and tendons. It is associated with multiple comorbidities such as diabetes mellitus, cardiovascular disease and metabolic syndrome. If PsA is suspected in primary care, routine blood tests should be requested to check for anaemia of chronic disease and raised inflammatory markers. Plain radiographs of hands and feet should be requested prior to referral, although classical changes do not occur early in the disease. If GPs suspect PsA, prompt referral is paramount. Patients should be referred if they have persistent joint symptoms, a positive screening questionnaire (PEST), joint swelling, dactylitis or enthesitis, and/or inflammatory back pain.

According to the International League Against Epilepsy, epilepsy can be diagnosed if any of the following criteria are met: at least two unprovoked seizures occurring on separate days (seizures within 24 hours count as one event); one unprovoked seizure with at least a 60% risk of recurrence over the next ten years on the basis of associated clinical factors (such as a recent stroke or brain tumour); diagnosis of a specific epilepsy syndrome. Convulsive events should be described rather than given a label. The EEG can establish the diagnosis of epilepsy and distinguish between focal and primary generalised epilepsy. An MRI brain scan is usually mandatory.

Most people living with non-alcoholic fatty liver disease (NAFLD) are thought to remain undiagnosed and many are asymptomatic. Obesity, hypertension, type 2 diabetes and hyperlipidaemia are risk factors for NAFLD, and NAFLD is considered to be the liver component of metabolic syndrome. Cardiovascular risk should be stratified for all NAFLD patients and any cardiovascular risk factors managed aggressively. Patients should be given lifestyle advice aimed at weight loss and increased physical activity.

Vascular dementia describes chronic progressive impairment of cognitive function arising from cerebrovascular injury. The presentation of vascular dementia is often insidious, with disorganisation, loss of drive, irritability, mental rigidity, difficulties with planning and problem solving, emotional lability and other mood changes, and sometimes inappropriate or disinhibited social behaviour. Physical examination may identify gait impairment, bradykinesia, rigidity, and focal neurological signs. 

The term acute coronary syndrome (ACS) describes a range of conditions, including unstable angina, non-ST-elevation myocardial infarction (NSTEMI) and ST-elevation myocardial infarction (STEMI), which are associated with a sudden reduction of blood flow to the heart. Its presentation is broad, and can include chest pain, cardiac arrest, haemodynamic instability, or cardiogenic shock. Urgent assessment of patients presenting with chest pain is crucial to the outcome as ACS treatment is time sensitive.

Prostate cancer is the most common cancer in men in the UK. In men with possible symptoms of prostate cancer, an assessment of LUTS, relevant risk factors and past medical history is essential. NICE recommends performing a DRE; this will give an impression of prostate size. If the prostate feels malignant on DRE this should trigger a fast-track referral to secondary care, via a suspected cancer pathway referral even if the PSA is normal. A PSA test should also be offered to men with LUTS or an abnormal DRE.

Pre-eclampsia is an important cause of maternal morbidity and mortality. It is a multisystem disorder of pregnancy characterised by new onset hypertension after 20 weeks’ gestation, usually accompanied by proteinuria. If a urine dipstick is positive for protein, the amount should be quantified: a protein: creatinine ratio = 30 mg/mmol is abnormal. There should be a high index of suspicion for pre-eclampsia if there is biochemical disturbance consistent with the diagnosis or evidence of fetal growth restriction when plotted on a customised growth chart.

Cystic fibrosis (CF) is an autosomal recessive disorder resulting from two disease-causing mutations in the cystic fibrosis transmembrane regulator (CFTR) gene located on chromosome 7. CFTR is a chloride and bicarbonate channel found in sweat glands and the epithelial cells of the respiratory and digestive tracts. CF is the most common life-limiting genetic disorder in the UK, diagnosed in one in every 2,500 babies. The median age of death in the UK has been rising steadily and is 36 years. Most deaths in young people are the result of rapidly progressing lung disease. Use of CFTR modulators has resulted in a step change in CF management, improved lung function and will help to improve survival. CFTR modulator therapy targets the underlying CFTR defect.

Nephrotic syndrome results from dysfunctional glomerular filtration and consists of three clinical features: severe proteinuria (> 3.5 g/24 hr); hypoalbuminaemia (serum albumin < 30 g/L); and peripheral oedema. It may occur in people of all ages. If nephrotic syndrome remains uncontrolled even those with normal kidney function at presentation can develop progressive chronic kidney disease. All patients with suspected nephrotic syndrome should be referred urgently to nephrology.

COPD is characterised by persistent respiratory symptoms and airflow limitation that is due to airway and/or alveolar abnormalities usually caused by significant exposure to noxious particles or gases and influenced by host factors including abnormal lung development. Performance and interpretation of spirometry should be based on clinical suspicion of airway disease in a patient with suggestive symptoms and exposures, where a medical history has been taken and examination performed.

Atrial fibrillation (AF) is often diagnosed as an incidental finding during a routine medical check. The prevalence increases with age and the presence of CVD further increases the risk of AF. Around 15-30% of patients with AF are asymptomatic. When patients present to their GP the most common symptoms of AF include: palpitations, chest pain, breathlessness and a reduction in exercise/functional capacity. To establish a diagnosis of AF, rhythm documentation with an ECG showing at least 30 seconds of AF is required.

Bell’s palsy is the most common cause of facial palsy and presents as a unilateral lower motor neurone facial weakness in association with sensory and parasympathetic dysfunction. Maximal facial weakness occurs within 72 hours and most cases recover over the following few weeks. It is essential to consider alternative causes of acute peripheral facial palsy including: infection, malignancy and autoimmune disease. Urgent referral to neurology or ENT, depending on local referral pathways, is warranted if there is uncertainty about the diagnosis or there are atypical features.

In chronic pancreatitis chronic inflammation of the pancreas results in irreversible injury and fibrosis. The most common causal factor is excess alcohol consumption. Smoking is an independent risk factor. Gene mutations can lead to hereditary chronic pancreatitis and idiopathic disease, where no clear cause can be identified, accounts for 20-30% of cases. The typical presenting symptom is intermittent or continuous upper abdominal pain which may radiate to the back. The pain is commonly triggered or exacerbated by eating or alcohol consumption.

Asthma affects 1.1 million children in the UK, and up to 50% experience asthma exacerbations each year. A previous asthma attack is the most important risk factor for future episodes. Modifiable risk factors include poor symptom control, suboptimal treatment regimens, over-reliance on SABAs and poor adherence to preventer therapy. Following an attack all children should receive asthma education as well as an updated personalised asthma action plan. Patients and/or parents must be able to demonstrate correct use of inhalers. A GP review should be carried out within two working days of an asthma attack.

Substance use disorder (SUD) encompasses the use of drugs (illicit and prescription) or alcohol in a way that may cause harm and is difficult to control. Diagnosis is based on clinical history and examination in accordance with ICD-11 criteria which categorise use as hazardous, harmful or dependent. People often see their GP for a medical problem arising from SUD without mentioning substance use. Good rapport and an empathetic attitude can facilitate disclosure. 

Varicoceles are usually asymptomatic but some patients may present with a scrotal swelling or pain. The patient should be examined in both the standing and supine positions, with and without a Valsalva manoeuvre. Patients may also present with primary or secondary infertility, with a varicocele detected on clinical examination or by imaging. Men presenting with infertility should be assessed with a reproductive history, semen analysis and hormone profile, including testosterone, LH and FSH.

Osteoporosis affects around 40% of women and 13% of men at some point in their lives. While almost any bone can fracture as the result of osteoporosis, the most common sites are the wrist, spine, hip and humerus. The presence of one or more clinical risk factors in individuals aged 50 and over is an indication for a fracture risk assessment. There is a strong evidence base for drug treatment in DXA proven osteoporosis and those with low trauma vertebral fractures.

Polycystic kidney disease (PKD) has an autosomal dominant mode of inheritance. Despite this 25% of patients will have no known family history and these cases are thought to be due to de novo mutations in the causative genes. PKD can present asymptomatically and should be considered in any patient with renal cysts noted on abdominal imaging, especially if there is a history of hypertension. Patients with PKD may present with hypertension before a decline in eGFR is noted. Cyst haemorrhage, rupture or infection can all present with acute loin pain. PKD can also cause a number of extrarenal complications.

Age-related macular degeneration (AMD) is a cause of painless, gradual loss of vision. Epidemiological evidence suggests 4-8% of people aged over 65 years in the UK have visually significant AMD. Patients with suspected neovascular AMD (NvAMD) should be seen by ophthalmology within two weeks, and if the diagnosis and progressive disease are confirmed, treatment should commence within the same timeframe. Intravitreal anti-vascular endothelial growth factor (anti-VEGF) agents cause regression of neovascularisation and reduce macular oedema. There is no treatment for dry AMD.