Symposium articles

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.

Ischaemic stroke is rare in premenopausal women but risk increases with advancing age and doubles in the ten years following the menopause. Up to the age of 75 years men have a 25% higher risk of suffering a stroke compared with women. However, the increased life expectancy of women ultimately results in a higher overall incidence. Twice as many women die from stroke compared with breast cancer. Women with cerebrovascular disease are more likely to present with atypical symptoms than men. Atrial fibrillation and hypertension, although less common than in men, are more potent risk factors for stroke in women.

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. 

In older people living with diabetes, geriatric syndromes, which indicate frailty, are emerging as a third category of complications in addition to the traditional microvascular and macrovascular sequelae. Frailty is defined by the presence of three or more phenotypes (weight loss, weakness, decreased physical activity, exhaustion and slow gait speed). Patients may progress from a non-frail to pre-frail or frail state. With timely intervention, there is a greater chance for an individual to recover from pre-frail to non-frail than to deteriorate into frailty.

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.

Clinically significant disease occurs through progression of primary infection or through later reactivation of latent TB infection (LTBI); this is most likely to occur in the first few years following infection, although late reactivation can occur several decades later, particularly in individuals who become immunosuppressed. Risk of TB acquisition is increased in people who have come to the UK from high incidence countries or who are born in the UK but come from high-risk ethnic minority groups. Other risk groups include those who are homeless, in prison or who misuse drugs or alcohol.

Estimates suggest an AF prevalence as high as 2% in adults with an exponential relationship with increasing age. Opportunistic screening for silent AF is recommended in at-risk groups. AF is associated with a 1.5-2 fold increased risk of death, and is responsible for 20-30% of all strokes. The CHA₂DS₂-VAS_c risk stratification score is recommended to assess stroke risk in patients with AF. Risk of severe bleeding with warfarin should also be assessed using the HAS-BLED score.

Neuropathic pain is defined as pain that is caused by a lesion or disease of the somatosensory nervous system and is estimated to affect 6-8% of the general population. A low threshold of suspicion in conditions associated with neuropathic pain can aid diagnosis. Typical neuropathic descriptors include burning, shooting, electric shock pain with numbness, pins and needles or itching.

The common presentation of coeliac disease has shifted from the historically classical symptoms of malabsorption in childhood to non-classical symptoms in adulthood such as irritable bowel syndrome-type symptoms, anaemia, chronic fatigue, change in bowel habit, abdominal pain and osteoporosis. A combination of coeliac serology and duodenal biopsy is required to diagnose coeliac disease in adults. A lifelong strict gluten-free diet is the only effective treatment currently available. All patients should be referred to a specialist dietitian for guidance and support.

Anxiety disorders are among the most common mental health disorders of childhood. Three quarters of anxiety disorders have their origins in childhood, with presentation often chronic in nature. Where the child is experiencing significant distress or functional impairment (e.g. missing school, not taking part in age-appropriate activity), then specialist input is likely to be needed.

The most common causes of young onset dementia are early onset forms of adult neurodegenerative conditions and alcohol. Vascular dementia is the second most common cause of young onset dementia after Alzheimer’s disease. Conventional vascular risk factors may be absent and diagnosis relies on imaging evidence of cerebrovascular disease. Those with suspected young onset dementia should be referred to a neurology-led cognitive disorders clinic where available as the differential diagnosis is considerably broader than in older adults and requires specialist investigation.

Up to 90% of men aged 50 to 80 may suffer from troublesome LUTS. A thorough urological history is essential to inform management. It is important to determine whether men have storage or voiding LUTS or both. Based on history, examination and investigation findings an individualised management plan should be formulated.

Severity and duration of menopausal symptoms varies markedly. Eight out of ten women experience symptoms and on average these last four years, with one in ten women experiencing symptoms for up to 12 years. Menopausal symptoms can begin years before menstruation ceases. A recent study found that women whose vasomotor symptoms started before the menopause suffered longest, median 11.8 years. Women whose hot flushes and night sweats started after the menopause had symptoms for a median of 3.4 years.

Polycystic kidney disease is the most common inherited renal disorder that results in chronic kidney disease. Clinical features include visible haematuria, loin pain, UTI and hypertension. The typical clinical course is a progressive increase in the number and size of renal cysts associated with gradual loss of kidney function (falling eGFR).

The prevalence of chronic pain in older people in the community ranges from 25 to 76% and for those in residential care, it is even higher at 83 to 93%. The most common sites affected are the back, hip, or knee, and other joints. There is increased reporting of pain in women (79%) compared with men (53%). Common conditions include osteoarthritis and, to a lesser extent, the inflammatory arthropathies such as rheumatoid arthritis. The differential diagnosis includes non-articular pain such as vascular limb pain and nocturnal cramp, some neuropathic pain conditions (such as compressive neuropathies and postherpetic neuralgia), soft tissue disorders such as fibromyalgia and myofascial pain syndromes. 

Osteoporosis is a common condition characterised by low bone mineral density and an increased risk of fragility fractures. It affects up to 30% of women and 12% of men at some point in their lives. The diagnosis of osteoporosis can be confirmed by DEXA but this should only be performed in patients who have an increased risk of fracture on the basis of clinical risk factors. DEXA should be considered if the 10-year risk of major osteoporotic fracture is > 10%.