Symposium articles

Gallstones affect around 15% of adults in the UK. Between 50 and 70% of patients with gallstones are asymptomatic at diagnosis and only 10-25% of these individuals will go on to develop symptomatic gallstone disease. The vast majority (90-95%) of gallstones are cholesterol stones. Obesity is associated with an increased risk of symptomatic gallstones. Patients with symptoms suggestive of gallstones should be offered liver function tests and an abdominal ultrasound.

Autism spectrum disorder (ASD) is a complex pervasive neurodevelopmental disorder with an estimated lifetime prevalence of 1%. ASD presents across a wide range of intellectual ability and persists throughout life. Core symptoms include abnormal social interaction and communication, restricted and repetitive interests or activities, associated with lack of cognitive flexibility, and unusual sensory responses. ASD is highly heritable and polygenic. The male:female ratio of ASD is 3:1. Although the behavioural presentation has a childhood onset, approximately 40% of children with ASD are undiagnosed.

Obsessive compulsive disorder (OCD) consists of obsessions (repetitive, intrusive thoughts, urges, impulses or doubts) and compulsions (ritualistic, deliberate behaviours performed in response to obsessions). As well as contamination and safety fears, many patients experience distressing thoughts of causing harm. Sexual obsessions are common, including thoughts regarding sexual orientation, aggressive sexual behaviour or child molestation. Typical compulsions include checking, washing, ruminating, and counting.

Men born after 1960 in the UK now have a 1 in 6 estimated lifetime risk of being diagnosed with prostate cancer. NICE recommends that men over 50 years old who request a PSA test should be fully counselled about the test beforehand. The test should also be offered to men with LUTS or an abnormal DRE. 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. Men with PSA values above the age-specific reference range should also be referred to urology urgently, via a suspected cancer pathway referral.

Ectopic pregnancy is estimated to occur in 1-2% of all pregnancies and continues to be the leading cause of maternal mortality in early pregnancy. Most ectopic pregnancies are located within the fallopian tube and carry a risk of tubal rupture and intra-abdominal bleeding. Women with ectopic pregnancy can present in a wide variety of ways, from acute collapse following rupture to asymptomatic and unaware that they are pregnant. Symptoms may include vaginal bleeding and abdominal pain. There may also be non-specific symptoms such as Gl and urinary symptoms, rectal pressure, dizziness, shoulder tip pain, fainting or syncope. 

Acute kidney injury (AKI) is a common complication in hospitalised patients and is associated with an increased risk of chronic kidney disease (CKD) and higher mortality. Two thirds of AKI cases develop in the community prior to hospital admission. AKI may be challenging to recognise because it is typically asymptomatic. It is usually detected incidentally in the setting of another illness when a rise in serum creatinine from baseline is identified. Risk factors for AKI include age 65 or over, diabetes, CKD, neurological or cognitive impairment, heart failure and the use of potentially nephrotoxic medications. Recognition of those at risk should prompt earlier and more frequent testing of U&E during any acute illness. 

Elderly onset rheumatoid arthritis (EORA) is defined as rheumatoid arthritis (RA) with age of first onset 65 years or over. It comprises an acute onset proximal or large joint arthritis with a prominent systemic syndrome characterised by constitutional symptoms and a higher ESR than in the younger patient with RA. Investigations should focus on trying to establish the cause and ruling out differential diagnoses. They should include inflammatory markers, serum uric acid, full blood count, rheumatoid factor/anti-CCP antibodies, and X-rays of the affected joint as well as the hands and feet. The possibility of malignancy should always be borne in mind. NICE recommends urgent referral of all suspected cases.

Schizophrenia often runs a chronic course and is associated with considerable morbidity and mortality. While psychotic symptoms are the most obvious manifestations of the condition, negative symptoms (e.g. apathy and withdrawal) and cognitive symptoms (especially deficits in executive function) are often more disabling. It generally presents in late adolescence or early adulthood. Schizophrenia typically develops insidiously, potentially over several years. The GP is ideally placed to respond to family concerns, identify prodromal symptoms, screen for psychotic symptoms and initiate either a mental health review or active monitoring in primary care.

Stroke is the most debilitating complication of atrial fibrillation (AF). AF-related strokes account for 20-25% of all strokes and are generally more severe and disabling and more likely to recur. Oral anticoagulation (OAC) remains the cornerstone of AF management with a clear prognostic benefit. It reduces stroke risk by two-thirds and mortality by a quarter. The decision to anticoagulate is taken irrespective of the pattern and duration of AF (paroxysmal, persistent or permanent). A large evidence base supports the use of OAC in men with a CHA₂DS₂-VASc score of 2 or more and women with a score of 3 or more. Hence, in the absence of absolute contraindications, OAC is strongly recommended.

Diagnosis of COPD is based on the presence of airflow obstruction after the administration of a bronchodilator i.e. post-bronchodilator spirometry. However, the National COPD Audit report for 2017-18 found that 59.5% of people hospitalised with a COPD exacerbation in England and Wales had no spirometry result available and in 12% of those who had undergone spirometry the test showed no airflow obstruction. Patients with COPD should be reviewed annually. It is advisable to repeat spirometry if there is a significant change in symptoms. It is important to determine objective measures of breathlessness (MRC dyspnoea score), quality of life (CAT questionnaire) and exacerbations (annual exacerbation and hospitalisation rate) as part of this review.

Hepatocellular carcinoma (HCC) accounts for around 90% of liver cancer cases and intrahepatic cholangiocarcinoma (CC) for 9-10%. Most cases of HCC occur in the context of chronic liver disease with cirrhosis, particularly in those with chronic hepatitis B or C. Other major risk factors include excessive alcohol consumption, obesity and aflatoxins. Overall, 10-15% of cirrhotic patients will develop HCC within 20 years. Patients presenting with an upper abdominal mass consistent with an enlarged liver should be referred for an urgent direct access ultrasound scan within two weeks. 

Atopic eczema, or atopic dermatitis, affects up to 20% of children and often presents in infancy. Cow’s milk allergy can also manifest as eczema and gastrointestinal (GI) symptoms. Food allergy should be suspected if there is a clear history of a reaction to a food in infants with moderate to severe eczema not responding to standard treatment, in infants with very early onset eczema (under 3 months) and those with GI symptoms. Seborrhoeic dermatitis is often an early manifestation of atopic eczema. Naevus simplex is a common congenital capillary malformation occurring in up to 40% of newborns. Port wine stains are less common, affecting about 0.3% of infants. 

The most common presentation of gout is a flare, characterised by acute onset of one, or occasionally more, hot, red, swollen joints which are very painful and tender. Less common is insidious onset of chronic usage related joint pain, especially in joints already affected by osteoarthritis. Subcutaneous tophi can also be the presentation, particulary in older people. In typical cases, clinical assessment alone is sufficient for diagnosis. Gout is also associated with comorbidities such as nephrolithiasis, chronic kidney disease, metabolic syndrome and heart disease, and increased mortality.

Nocturia can be a symptom of an underlying disease process or behavioural. The history should not just focus on lower urinary tract symptoms but should also include past medical history, current medications and fluid intake. It is important to ask specifically about the onset and progression of symptoms, and to what extent the patient is troubled by the nocturia. An abdominal examination should always be performed and should exclude urinary retention. A digital rectal examination of the prostate should also be offered.

Heavy menstrual bleeding has been defined as ‘excessive menstrual blood loss which interferes with a woman’s physical, social, emotional, and/or material quality of life’. Heavy menstrual bleeding affects 25% of women of reproductive age and is estimated to be the fourth most common reason for gynaecological referrals. Women should be asked about pelvic pain which might suggest endometriosis and pressure symptoms which might suggest significant fibroids. Examination is appropriate if there is intermenstrual or postcoital bleeding and, if the woman is actively bleeding, may identify the source of the bleeding.

Kidney stones are common with as many as 1 in 10 people developing a symptomatic stone. Up to 50% of stone formers will have at least one further symptomatic stone in their lifetime. Ureteric colic is unaffected by posture with patients often writhing in seemingly futile attempts to relieve pain. Immediate management comprises effective analgesia while urinalysis is the first step in confirming the diagnosis. One of the challenges facing the GP is to differentiate patients who warrant immediate hospital referral from those who can be seen less acutely.

Depression in older adults is common. Depressive symptoms may be part of a recurrent depressive disorder or experienced for the first time in later life as a result of changes in risk and resilience factors. There is an association between cerebrovascular pathology, vascular risk factors and depression. Physical illnesses, particularly those associated with frailty, are also important risk factors for depression. Depression has a distinct presentation in late life and low mood may not be the predominant presenting symptom. Older patients may present with physical symptoms, apathy, cognitive symptoms, agitation, retardation, fatigue or weight loss.

Primary Sjögren’s syndrome is a chronic systemic immune-mediated condition of unknown aetiology characterised by focal lymphocytic infiltration of exocrine (mainly salivary and lacrimal) glands. It affects 0.1-4.6% of the European population and 90% of cases are female. Although it usually presents in the fifth or sixth decade, it can be seen in younger people who tend to present with systemic disease and are less likely to have classical sicca symptoms. Patients should be referred to a rheumatologist to confirm diagnosis, and this may involve scintigraphy/sialography and/or labial gland biopsy.

Overall survival has improved dramatically for patients with cystic fibrosis (CF) since the millennium such that median life expectancy now extends into the fifth decade. However, with increasing longevity comes a range of comorbidities, some as complications of the disease itself but others as a consequence of long-term treatments required to manage CF. Chronic infection and inflammation eventually cause irreversible bronchiectasis and decline in pulmonary function, and 90% of CF deaths are caused by progressive respiratory failure.

Cystic fibrosis (CF) is a multisystem genetic disorder affecting around 1 in 2,500 live births in the UK. Although all newborns undergo screening for CF, around 15% of infants will present shortly after birth with meconium ileus and some will already have faltering growth when the screening results are available at 3-4 weeks of age. Infants who present with meconium ileus should be treated with a high index of suspicion for CF until proven otherwise. Mucociliary dysfunction leads to accumulation of mucus in the airways and secondary infection. Respiratory symptoms may be non-specific initially and include cough and wheeziness, frequent respiratory infections and, in older children, sinusitis.