Symposium articles

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.

Renal cell carcinoma should be suspected in the presence of: localising symptoms such as flank pain, a loin mass or haematuria; constitutional upset including weight loss, pyrexia and/or night sweats; or unexplained test results. Smoking, obesity and hypertension are common risk factors and all three demonstrate a dose-response relationship with the relative risk of renal cell carcinoma.

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.

The prevalence of sleep complaints in adults in a primary care setting is > 10%. The most frequently seen condition by far is that of primary insomnia, which affects 10% of adults on a chronic basis. In contrast to primary insomnia, in which most patients report tiredness and fatigue during the day but are unable to sleep during the day either, the second most frequent sleep disorder encountered, obstructive sleep apnoea, is typified by excessive daytime sleepiness. Patients with primary insomnia or fatigue syndromes typically will score low on the Epworth Sleepiness Scale (ESS < 3) whereas those with organic sleep pathologies or sleep restriction will score higher. A score > 10 is seen as 'pathological', with a mean ESS in the population of 5-6. 

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.

Heart disease in children and adolescents can be congenital, in which structural defects of the heart and major blood vessels are present from birth, acquired, whereby disease develops during life, or genetic, including diseases affecting the heart muscle, electrical system or the aorta. The incidence of congenital heart disease has decreased over the past 30 years, with approximately 1 in 180 babies born with congenital heart disease in the UK each year. Several cardiac diseases are genetic and can manifest in childhood. Most are primary cardiomyopathies, ion channel diseases, coronary artery disease from familial hypercholesterolaemia or aortopathies.

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.

Although the incidence of testicular cancer has increased over the past few decades, testicular tumours are still rare and many GPs will only see one or two new diagnoses in their career. When examining scrotal swellings, the key question is whether the lump is intra- or extra-testicular, as palpable intra-testicular lesions are highly likely (around 90%) to be malignant, whereas those lying outside the testis are usually benign.

Fibroids are benign, hormone-dependent tumours of uterine smooth muscle and connective tissue. They are commonly asymptomatic, but can cause symptoms such as heavy menstrual bleeding and pelvic pressure symptoms. Between 20 to 30% of women with heavy menstrual bleeding have fibroids. Fibroids are most prevalent in women aged 30-50 years and there may be a genetic predisposition. They are more common in black women than white women. Other risk factors include obesity and nulliparity. Asymptomatic women should only be referred if their uterus is palpable abdominally, if fibroids distort the uterine cavity or the uterus is larger than 12 cm in length.

Nephrotic syndrome is uncommon in general practice. A GP may only see two or three adult cases in their career. Nephrotic syndrome develops following pathological injury to renal glomeruli. This may be a primary problem, with a disease specific to the kidneys, or secondary to a systemic disorder such as diabetes mellitus. The most common cause in children is minimal change glomerulonephritis. In white adults, nephrotic syndrome is most frequently due to membranous nephropathy whereas in populations of African ancestry the most common cause of nephrotic syndrome is focal segmental glomerulosclerosis (FSGS). Diabetic nephropathy is the most common multisystem disease that can cause nephrotic syndrome. 

Depression and dementia are both common conditions in older people, and they frequently occur together. Rather than a risk factor, depression with onset in later life is more likely to be either prodromal to dementia or a condition that unmasks pre-existing cognitive impairment by compromising cognitive reserve. The distinction between depression and early dementia may be particularly difficult. Detailed histories obtained from patients and their relatives as well as longitudinal follow-up are important. 

Polymyalgia rheumatica (PMR) is a common inflammatory condition of unknown aetiology. There is no specific diagnostic test for PMR but the usual pattern is a commensurate rise in CRP and ESR. A small proportion of PMR patients will have normal inflammatory markers. At diagnosis and each follow-up visit it is imperative to consider the potential for associated giant cell arteritis (GCA). If there is any suspicion of GCA, urgent discussion with the rheumatologist should take place that day.