Symposium articles

Systemic lupus erythematosus (SLE) is a multisystem, autoimmune disease. SLE mainly affects women and causes fatigue, rashes (often associated with photosensitivity), hair loss and inflammatory arthritis. However, it can also affect men in whom it is often more severe with a greater likelihood of renal involvement and a greater degree of organ damage. According to the British Society for Rheumatology guideline, the diagnosis of SLE requires a combination of clinical features and the presence of at least one relevant immunological abnormality.

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.

The National Review of Asthma Deaths found that most patients who died were actually considered to have mild to moderate asthma, with 57% of fatal cases not under specialist care at the time of their death. In cases of fatal asthma there was widespread underuse of inhaled corticosteroids and an overreliance on short-acting beta-agonists. Referral to secondary care should take place when there is diagnostic uncertainty or atypical features, the possibility of hypersensitivity to inhaled material or concerns over treatment or exacerbations. Patients who have suffered even a single life-threatening asthma attack should be under specialist supervision. 

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.

Syncope is a transient loss of consciousness (T-LOC) caused by cerebral hypoperfusion, characterised by a rapid onset, short duration and spontaneous complete recovery. It needs to be differentiated from other conditions that can cause T-LOC such as seizures, trauma, hypoglycaemia, and psychogenic causes. Three principal types of syncope can be identified: reflex or neurally mediated, orthostatic hypotensive and cardiac. The common denominator of all these conditions is low systemic BP causing global cerebral hypoperfusion.

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 symptoms of depression in adolescents are similar to those in adults. Depression in children of primary school age may be very subtle and symptoms include mood fluctuations, tearfulness, frustration or temper tantrums. If depression is suspected, it is essential to evaluate the degree of risk. Risk has two key aspects: the likelihood of a potentially harmful incident occurring and degree of potential harm.

Autism covers a wide spectrum across the dimensions of social communication, repetitive and stereotyped behaviours as well as other non-clinical and cognitive features. Individuals with autism can function well in certain environments, where there are fewer demands to multitask and factual information and pattern recognition are required, but they may not function well in highly social environments, or situations characterised by rapid and unpredictable change.

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.

Most patients with osteoporosis are asymptomatic unless they suffer a fragility fracture. A fragility fracture is a type of pathological fracture that occurs as a result of normal activities, such as lifting, bending, or a fall from standing height or less. There are three fracture sites said to be typical of fragility fractures: vertebral fractures; fractures of the neck of the femur; and Colles' fracture of the wrist. Following fracture risk assessment a dual energy X-ray absorptiometry (DXA) scan may be recommended.