History A 40-year-old man presents to his general practitioner with lower back pain and pain radiating down his right leg. The pain started as he was lifting a wardrobe in the bedroom. Since then he has also noticed that his foot feels ‘strange’, and he catches it every time he walks up stairs. On direct questioning he says he feels slightly bloated and hasn’t passed urine since the morning. He is normally fit and healthy. He takes no regular medication. He smokes 5 cigars a day and drinks 30 units of alcohol a week. He is married and works as a structural engineer. Examination His vital signs are normal. Abdominal examination reveals a palpable mass in the suprapubic region. Examination of the lumbar spine is normal. The power in his legs is reduced,with weakness of ankle dorsiflexion and the extensor hallucis longus. He has reduced pinprick sensation over the lateral aspect of his right foot. The sensation around his perineum is abnormal. He has an absent ankle reflex on the right. A digital rectal examination reveals reduced anal tone. His pedal pulses are palpable. Questions • What is the likely diagnosis? • What are the initial stages in this man’s management? • What investigation should be arranged? ANSWER This man has cauda equina syndrome.The spinal cord tapers and ends at the level between the first and second lumbar vertebraein the average adult. The most distal part of the spinal cord is called the conus medullaris, and its tapering end continues as the filum terminale. Distal to the end of the spinal cord are the nerve roots, which have the appearance of a horse’s tail, hence the latin term ‘cauda equina’. Cauda equina syndrome occurs when there is compression of the nerve roots at this level.There are a number of causes including traumatic injury, spinal stenosis, spinal neoplasm, schwannomas, ependymomas, inflammatory conditions, and infection. However, as in this case, the likely cause is intervertebral disc herniation, which is the responsible for up to 15 per cent of cases. Over 90 per cent of disc herniations occur at the L4–L5 or L5–S1 levels. The important features in this case are the presence of urogenital signs and symptoms.The palpable suprapubic mass is his bladder, as he has developed urinary retention. The abnormal sensation around his perineum, which is typically described as ‘saddle anaesthesia’, is pathognomonic. A digital rectal examination is useful in determining anal tone and is also used to determine the severity of the neurological compromise.It should be possible to accurately determine the level of neurological compromise detailed neurological examination. An urgent magnetic resonance imaging (MRI) scan of the lumbar spine is performed to give detailed information regarding the exact location and nature of the pathology. The patient should be referred urgently to a spinal centre once the diagnosis has been confirmed. KEY POINTS • 90 per cent of disc herniations occur at the L4–L5/L5–S1 levels. • An urgent MRI scan of the spine should be performed in any patient with back pain and urogenital signs or symptoms.
General Medicine • General Surgery + 2 more
History A 22-year-old man presented with malaise and anorexia for 1 week. He vomited on one occasion, with no blood. He has felt feverish but has not taken his temperature. For 2 weeks he has had aching pains in the knees, elbows and wrists without any obvious swelling of the joints. He has not noticed any change in his urine or bowels. Five years ago he had glandular fever confirmed serologically. He smokes 25 cigarettes per day and drinks 20–40 units of alcohol per week. He has taken marijuana and ecstasy occasionally over the past 2 years and various tablets and mixtures at clubs without being sure of the constituents. He denies any intravenous drug use. He has had irregular homosexual contacts but says that he has always used protection. He claims to have had an HIV test which was negative 6 months earlier. He has not travelled outside Western Europe in the last 2 years. He is unemployed and lives in a flat with three other people. There is no relevant family history. Examination He has a temperature of 38.6°C and looks unwell. He looks as if he may be a little jaundiced. He is a little tender in the right upper quadrant of the abdomen. There are no abnormalities to find on examination of the joints or in any other system. Questions • What is your interpretation of the findings? • What is the likely diagnosis? • What treatment is required? ANSWER The diagnosis is likely to be acute viral hepatitis. The biochemical results show abnormal liver function tests with a predominant change in the transaminases, indicating a hepatocellular rather than an obstructive problem in the liver. This might be caused by hepatitis A,B or C. The raised white count is compatible with acute hepatitis. Homosexuality and intravenous drug abuse are risk factors for hepatitis B and C. Other viral infections such as cytomegalovirus and herpes simplex virus are possible. Since the drug ingestion history is unclear, there is a possibility of a drug-induced hepatitis.The prodromal joint symptoms suggest a viral infection as the cause, and this is more common with hepatitis B. Serological tests can be used to see whether there are immunoglobulin M (IgM) antibodies indicating acute infection with one of these viruses, to confirm the diagnosis. The reported negative HIV test 6 months earlier makes an HIV-associated condition unlikely although patients are not always reliable in their accounts of HIV tests, and HIV seroconversion should also be considered. Treatment is basically supportive in the acute phase. The prothrombin time in this patient is raised slightly but not enough to be an anxiety or an indicator of very severe disease. Liver function will need to be measured to monitor enzyme levels as a guide to progress. Alcohol and any other hepatotoxic drug intake should be avoided until liver function tests are back to normal. If hepatitis B or C is confirmed by serology then liver function tests and serological tests should be monitored for chronic disease, and antiviral therapy then considered. Rare complications of the acute illness are fulminant hepatic failure, aplastic anaemia, myocarditis and vasculitis. The opportunity should be taken to advise him about the potential dangers of his intake of cigarettes, drugs and alcohol, and to offer him appropriate support in these areas. KEY POINTS • Viral hepatitis is often associated with a prodrome of arthralgia and flu-like symptoms. • Confirmatory evidence should be sought for patients’ reports of HIV test results.
Endocrinology • General Medicine + 2 more
History An 85-year-old woman is investigated by her general practitioner (GP) for increasing tiredness which has developed over the past 6 months. She has lost her appetite and feels constantly nauseated. She has lost about 8 kg in weight over the past 6 months. For the last 4 weeks she has also complained of generalized itching and cramps. She has been hypertensive for 20 years and has been on antihypertensive medication for that time. She has had two cerebrovascular accidents which have limited her mobility. She is an African Caribbean, having emigrated to the UK in the 1960s. She lives alone but uses a ‘meals on wheels’ service and goes to a day hospital twice a week. She has two daughters. Examination Her conjunctivae are pale. Her pulse is 88/min regular, blood pressure 190/110 mmHg; mild pitting oedema of her ankles is present. Otherwise, examination of her cardiovascular and respiratory systems is normal. Neurological examination shows a left upper motor neurone facial palsy with mild weakness and increased reflexes in the left arm and leg. She is able to walk with a stick. Funduscopy shows arteriovenous nipping and increased tortuosity of the arteries. Questions • What is the diagnosis? • How would you investigate and manage this patient? ANSWER This patient presents with the typical symptoms of end-stage renal failure, namely anorexia,nausea, weight loss, fatigue, pruritus and cramps.The elevated urea and creatinine levels confirm renal failure but do not distinguish between acute and chronic renal failure. Usually, in the former, there is either evidence of a systemic illness or some other obvious precipitating cause, e.g. use of nephrotoxic drugs/prolonged episode of hypotension, whereas in the latter there is a prolonged history of general malaise. If the patient has had previous blood tests measuring serum creatinine, these will be informative about the progression of deterioration of renal function. In this patient, the anaemia and hyperparathyroidism (raised alkaline phosphatase) are features indicating chronicity of the renal failure. The normochromic, normocytic anaemia is predominantly due to erythropoietin deficiency (the kidney is the major source of erythropoietin production). Hyperparathyroidism is a result of elevated serum phosphate levels due to decreased renal clearance of phosphate and reduced vitamin D levels (the kidney is the site of hydroxylation of 25-hydroxycholecalciferol to the active form 1,25-dihydroxycholecalciferol). A hand X-ray showing the typical appearances of hyperparathyroidism (erosion of the terminal phalanges and subperiosteal erosions of the radial aspects of the middle phalanges), implying long-standing renal failure can be helpful in distinguishing chronic and acute renal failure. Renal ultrasound is the essential investigation. Ultrasound will accurately size the kidneys, and identify obvious causes for renal failure such as polycystic kidney disease or obstruction causing bilateral hydronephrosis. Asymmetrically sized kidneys suggest reflux nephropathy or renovascular disease. In this case, ultrasound showed two small (8 cm) echogenic kidneys consistent with long-standing renal failure. A renal biopsy in this case is not appropriate as biopsies of small kidneys have a high incidence of bleeding complications, and the sample obtained would show extensive glomerular and tubulo-interstitial fibrosis and may not identify the original disease. The patient’s renal failure may have been due to hypertension, or a primary glomerulonephritis such as IgA nephropathy. African-Caribbeans are more prone to develop hypertensive renal failure than other racial groups. Antihypertensive medications are needed to treat her blood pressure adequately, oral phosphate binders and vitamin D preparations to control her secondary hyperparathyroidism, and erythropoietin injections to treat her anaemia. The case raises the dilemma of whether dialysis is appropriate in this patient. Hospital-based haemodialysis or home-based peritoneal dialysis are the options available. Her age and comorbid illnesses preclude renal transplantation. Conservative management without dialysis may be appropriate in this case. KEY POINTS • Patients often become symptomatic due to renal failure only when their glomerular filtration rate (GFR) is !15 mL/min, and thus may present with end-stage renal failure. • Previous measurements of serum creatinine enable the rate of deterioration of renal function to be known. • Renal ultrasound is the key imaging investigation.
General Surgery • General Medicine + 2 more
History You are asked to review a 67-year-old man on the orthopaedic ward who underwent a total knee replacement 4 days ago. The nursing staff report that he has developed a temperature over the last 24 h. He was making a good postoperative recovery and had his urinary catheter removed 48 h ago. He reports no chest symptoms. He is eating and drinking and has opened his bowels normally. He passed urine 2 h ago. His past medical history includes hypertension and depression. He takes ramipril 5 mg od, simvastatin 40 mg and sertraline 50 mg od. Up until 3 years ago he smoked 20 cigarettes a day. He does not drink alcohol. He is married and is a retired accountant. Examination He has a temperature of 37.8°C with a pulse rate of 92/min and a blood pressure of 114/82 mmHg. The oxygen saturations are 96 per cent on room air. He is comfortable in bed but looks flushed. He is orientated in time, place and person. His cardiorespiratory and abdominal examinations are unremarkable. He has no calf swelling or tenderness. The wound looks dry and the knee has a typical postoperative appearance. Questions • What tests form the basis of a ‘septic screen’? • What is the likely diagnosis? • How should he be managed? ANSWER It is very common to be called to see a postoperative patient with a raised temperature. In the first 24 h after the operation a temperature rise may occur as a result of the release of inflammatory mediators from traumatized tissues. Temperatures occuring after 24 h are commonly due to pneumonia, urinary tract infection, wound infection, deep vein thrombosis, pulmonary embolism, bowel obstruction or ileus. With this in mind, after completing a full history and examination, a ‘septic screen’ should be performed. Septic screen ! • Urine dipstick and urine sent for microscopy, culture and sensitivity • Blood cultures • Sputum cultures • Wound swab – if appropriate • Chest X-ray Other useful tests that should also be performed are: • full blood count/urea and electrolytes/C-reactive protein • ECG: useful to exclude a cardiac cause • arterial blood gases: if septic or hypoxic. In this case, the patient has developed a urinary tract infection; the clues in the scenario are the history of previous catheterization and the urine dipstick positive for both nitrites and leucocytes. The D-dimer test should be interpreted with caution as it invariably goes up after surgery. Similarly, because of their lack of specificity, CRP and ESR are of limited value. Empirical antibiotic treatment should be commenced after the urine is sent for culture and sensitivity. The presence of a bacteraemia could lead to a potentially devastating infection of the knee prosthesis, so in this patient there is an argument for giving the initial doses of antibiotics intravenously, to ensure that high tissue levels are reached quickly. KEY POINTS • A septic screen should be done to investigate the cause of a postoperative pyrexia.
All Specialities • Emergency Medicine + 1 more
History: A 33-year-old woman is admitted to the hospital because of general fatigue, fever, and weight loss. She has lost 5 kg in weight over the last 3 months. She has felt increasingly fatigued and has a poor appetite. Over the past few weeks, she has felt as if she was feverish and has developed night sweats. She has no chest pain or shortness of breath. She and her two children, aged 4 and 6 years, have come from Nigeria to visit her husband who has been in this country for 2 years. She has visited the UK twice before. She has had occasional fevers over the last 10 years and these have been treated presumptively as malaria with a good response. She has been otherwise well, although her periods have been irregular over the last 3 months. She has had no other serious medical illnesses. She is a non-smoker and drinks no alcohol. The ward receptionist has suggested that she is not entitled to NHS treatment. Examination: She is thin and looks unwell. Her temperature is 38.2°C. There are no abnormalities in the cardiovascular or respiratory systems and there are no lymph nodes palpable. Her conjunctivae look pale. Physical examination is otherwise normal. Questions • What is the diagnosis? • How would you investigate and manage this patient? ANSWER This patient has a fever, marked weight loss and leucoerythroblastic anaemia. The length of the symptoms makes infections such as malaria unlikely, although this should be checked since she arrived from Nigeria and combined infections are possible. A very important finding is that immature red and white cells are seen in the peripheral blood. This leucoerythroblastic anaemia indicates bone-marrow replacement by tumour or infection forcing immature cells out into the blood. This woman has miliary tuberculosis. Miliary tuberculosis is characterized by tuberculous granulomata throughout the body due to widespread dissemination of tubercle bacilli. It is now usually seen in elderly persons and the diagnosis is often only made at autopsy. The chest X-ray shows miliary lesions (multiple small nodules 2–5 mm in diameter). These are often subtle or not visible at presentation. There may be choroidal tubercles in the eyes on funduscopy and hepatosplenomegaly. Differential diagnoses of fevers >3 weeks! • Other infections: visceral abscesses, infective endocarditis, specific organisms (e.g. brucellosis, actinomycosis or toxoplasmosis) and tropical diseases (e.g. malaria or trypanosomiasis). • Neoplastic diseases: lymphomas, renal cell carcinomas, pancreatic tumours. • Collagen vascular diseases, e.g. systemic vasculitis, rheumatoid arthritis, systemic lupus erythematosus, temporal arteritis. • Miscellaneous: recurrent pulmonary emboli, drug fever, sarcoidosis. This patient needs an urgent diagnosis. Bronchoscopy with lavage may reveal acid-fast bacilli. Biopsy of her liver and bone marrow may show tubercle bacilli or caseating granulomas. The tissue should also be sent for culture. The tuberculin test may be negative because of immunocompetence induced by the disease. Antituberculous treatment with four agents must be started immediately once biopsy material has been obtained. In a woman of childbearing age, a pregnancy test should be done, particularly in the face of menstrual irregularities. In severely ill patients corticosteroids are of benefit. The total lymphocyte count is low and, in a patient from Africa, HIV infection is a distinct possibility. Informed consent should be sought for an HIV test. Tuberculosis is a notifiable disease and the diagnosis should be notified and arrangements made to screen her children and any other close contacts. Although eligibility for treatment needs to be assessed by appropriate managers, this woman has an acute life-threatening illness and is a potential infective risk to others. Investigation and treatment should be undertaken in the normal way. KEY POINTS • Miliary tuberculosis is often missed as a cause of weight loss and fever in the elderly. • Miliary tuberculosis may present with leucoerythroblastic anaemia. • Always culture biopsy material in patients with pyrexia of unknown origin.
Microbiology • General Medicine + 4 more
History A 64-year-old man goes to his general practitioner (GP) because he has become increasingly overweight. He has gained 8 kg in weight over the past 6 months. He has noticed that he is constantly hungry. He has found that he is bruising easily. He finds it difficult to get up from his armchair or to climb stairs. He feels depressed and finds himself waking early in the mornings. He has had no previous physical or psychiatric illnesses. He is a retired miner and lives with his wife in a terraced house. He smokes 30 cigarettes per day and drinks 15 units of alcohol per week. Examination He is overweight particularly in the abdominal region. There are purple stretch marks on his abdomen and thighs. His skin is thin, and there are spontaneous bruises. His pulse is 76/min, regular, and blood pressure 168/104 mmHg. There is peripheral oedema. Otherwise, examination of his heart, respiratory and abdominal systems is normal. His neurological examination is otherwise normal, apart from some weakness in shoulder abduction and hip flexion. Questions • What is the likely diagnosis? • How would you investigate and manage this patient? The symptoms and signs of proximal myopathy, striae and truncal obesity are features of Cushing’s syndrome. The hyperglycaemia and hypokalaemia would fit this diagnosis. In addition psychiatric disturbances, typically depression, may occur in Cushing’s syndrome. Cushing’s disease is due to a pituitary adenoma secreting adrenocorticotrophic hormone (ACTH). The term ‘Cushing’s syndrome’ is a wider one, and encompasses a group of disorders due to overproduction of cortisol. Causes of Cushing’s syndrome ! • ACTH secretion by a basophil adenoma of the anterior pituitary gland (Cushing’s disease). • Ectopic ACTH secretion, e.g. from a bronchial carcinoma, often causing a massive release of cortisol and a severe and rapid onset of symptoms. • Primary adenoma/carcinoma of the adrenal cortex (suppressed ACTH). • Iatrogenic: corticosteroid treatment. This is the commonest cause in day-to-day clinical practice. This patient’s primary presenting complaint is rapid-onset obesity. The principal causes of obesity are: • genetic • environmental: excessive food intake, lack of exercise • hormonal: hypothyroidism, Cushing’s syndrome, polycystic ovaries and hyperprolactinaemia • alcohol-induced pseudo-Cushing’s syndrome. This patient should be investigated by an endocrinologist. The first point is to establish is that this man has abnormal cortisol secretion. There should be loss of the normal diurnal rhythm with an elevated midnight cortisol level or increased urinary conjugated cortisol excretion. A dexamethasone suppression test would normally suppress cortisol excretion. It is then important to exclude common causes of abnormal cortisol excretion such as stress/depression or alcohol abuse. Measurement of ACTH levels distinguishes between adrenal (low ACTH) and pituitary/ectopic causes (high ACTH). This patient drinks alcohol moderately and has a normal gamma-glutamyl transpeptidase. His depression seems to be a consequence of his cortisol excess rather than a cause, as he has no psychiatric history. He is having problems with stairs and his social circumstances need to be considered, but his mobility should improve with appropriate treatment.His ACTH level is elevated. Bronchial carcinoma is a possibility as he is a heavy smoker and the onset of his Cushing’s syndrome has been rapid. However his chest X-ray is normal. In this man a magnetic resonance imaging (MRI) scan (T1-weighted coronal image) through the pituitary shows a hypointense microadenoma. This can be treated with surgery or radiotherapy.
General Medicine • Endocrinology + 2 more
History A 35-year-old man is seen in the emergency department because he has developed a painful, swollen right knee. This has occurred rapidly over the past 36 h. There is no history of trauma to the knee or previous joint problems. He feels generally unwell and has also noticed his eyes are sore. He has had no significant previous medical illnesses. He is married with two children. He is a non-smoker and drinks about 15 units of alcohol per week. He is a businessman and returned 3 weeks ago from a business trip to Thailand. Examination His temperature is 38.0°C. Both eyes appear red. There is a brown macular rash on his palms and soles. Examination of cardiovascular, respiratory, abdominal and neurological systems is normal. His right knee is swollen, hot and tender with limitation in flexion. No other joint appears to be affected. Questions • What is the diagnosis and what are the major differential diagnoses? • How would you investigate and manage this patient? ANSWER This patient has a monoarthropathy, a rash and red eyes. Investigations show a raised white cell count and ESR. The diagnosis in this man was postinfective inflammatory mucositis and arthritis, often shortened to reactive arthritis, and also known as Reiter’s syndrome. However there is now a move to disassociate the name of Reiter (1881–1969) from this disease in view of his crimes committed, as a doctor, by experimenting on prisoners in the concentration camps of Nazi Germany. This disease classically presents with a triad of symptoms (although all three may not always be present): • seronegative arthritis affecting mainly lower limb joints • conjunctivitis • non-specific urethritis. The trigger can be non-gonococcal urethritis (NGU) or certain bowel infections. This patient is likely to have contracted NGU after sexual intercourse in Thailand. On direct questioning he admitted to the presence of a urethral discharge. The acute arthritis is typically a monoarthritis but can develop into a chronic relapsing destructive arthritis affecting the knees and feet, and causing a sacroiliitis and spondylitis. Tendinitis and plantar fasciitis may occur. The red eyes are due to conjunctivitis and anterior uveitis, and can recur with flares of the arthritis. The rash on the patient’s palmar surfaces is the characteristic brown macular rash of this condition – keratoderma blenorrhagica. Other features of this condition that are sometimes seen include nail dystrophy and a circinate balanitis. Systemic manifestations such as pericarditis, pleuritis, fever and lymphadenopathy may occur in this disease. The ESR is usually elevated. Differential diagnoses of an acute monoarthritis • Gonococcal arthritis: occasionally a polyarthritis affecting the small joints of the hands and wrists, with a pustular rash. • Acute septic arthritis: the patient looks ill and septic and the skin over the joint is very erythematous. • Other seronegative arthritides: ankylosing spondylitis, psoriatic arthropathy. • Viral arthritis: usually polyarticular. • Acute rheumatoid arthritis: usually polyarticular. • Acute gout: most commonly affects the metatarsophalangeal joints. • Pseudogout: caused by sodium pyrophosphate crystals; often affects large joints in older patients. • Lyme disease: caused by Borrelia burgdorfii infection transmitted by a tick bite; may have the characteristic skin rash – erythema chronicum migrans. • Haemorrhagic arthritis: usually a history of trauma or bleeding disorder. This patient should have urethral swabs taken to exclude chlamydial/gonococcal infections, and the appropriate antibiotics given. His knee should be aspirated. A Gram stain will exclude a pyogenic infection and birefringent microscopy can be used to detect uric acid or pyrophosphate crystals. This patient should be given non-steroidal anti-inflammatory drugs (NSAIDs) for the pain and he may require bed rest. If his disease relapses he should be referred to a rheumatologist. He and his wife should be referred to the sexually transmitted disease clinic for counselling and testing for other sexually transmitted diseases such as hepatitis B, HIV and syphilis. KEY POINTS • The most likely causes of an acute large joint monoarthritis are a septic arthritis and a seronegative arthritis. • Septic arthritis must be recognized and treated as a medical emergency
General Surgery • General Medicine + 1 more
History A 38-year-old woman presents to her general practitioner (GP) complaining of pains in her joints. She has noticed these pains worsening over several months. Her joints are most stiff on waking in the mornings. The joints that are most painful are the small joints of the hands and feet. The pain is relieved by diclofenac tablets. She feels tired and has lost 4 kg in weight over 3 months. She has had no previous serious illnesses. She is married with two children and works as a legal secretary. She is a non-smoker and drinks alcohol only occasionally. Her only medication is diclofenac. Examination On examination she looks pale and is clinically anaemic. Her proximal interphalangeal joints and metacarpophalangeal joints are swollen and painful with effusions present. Her metatarsophalangeal joints are also tender. Physical examination is otherwise normal. Questions • What is the diagnosis and what are the major differential diagnoses? • How would you investigate and manage this patient? ANSWER This patient has symptoms and signs typical of early rheumatoid arthritis. Rheumatoid arthritis is a chronic, systemic inflammatory disorder principally affecting joints in a peripheral symmetrical distribution. The peak incidence is between 35 and 55 years in women and 40 and 60 years in men. It is a disease with a long course with exacerbations and remissions. The acute presentation may occur over the course of a day and be associated with fever and malaise. More commonly, as in this case, it presents insidiously, and this group has a worse prognosis. Rheumatoid arthritis characteristically affects proximal interphalangeal, metacarpophalangeal and wrist joints in the hands, and metatarsophalangeal joints, ankles, knees and cervical spine. Early-morning stiffness of the joints is typical of rheumatoid arthritis. As the disease progresses damage to cartilage, bone and tendons leads to the characteristic deformities of this condition. Extra-articular features include rheumatoid nodules, vasculitis causing cutaneous nodules and digital gangrene, scleritis, pleural effusions, diffuse pulmonary fibrosis, pulmonary nodules, obliterative bronchiolitis, pericarditis and splenomegaly (Felty’s syndrome). There is usually a normochromic normocytic anaemia and raised ESR as seen here. The degree of anaemia and ESR roughly correlate with disease activity. In this case the raised creatinine is probably due to the use of diclofenac. Non-steroidal anti-inflammatory drugs (NSAIDs) reduce glomerular filtration rate in all patients. Rarely they can cause an acute interstitial nephritis. In patients with lond-standing rheumatoid arthritis, renal infiltration by amyloid may occur. Differential diagnosis of an acute symmetrical polyarthritis! • Osteoarthritis: characteristically affects the distal interphalangeal as well as proximal interphalangeal and first metacarpophalangeal joints. • Rheumatoid arthritis. • Systemic lupus erythematosus: usually causes a mild, flitting non-erosive arthritis. • Gout: usually starts as a monoarthritis. • Seronegative arthritides: ankylosing spondylitis, psoriasis, Reiter’s disease. These usually cause an asymmetrical arthritis affecting medium and larger joints as well as the sacroiliac and distal interphalangeal joints. • Acute viral arthritis, e.g rubella: resolves completely. This patient should be referred to a rheumatologist for further investigation and management. The affected joints should be X-rayed. If there has been joint damage, the X-rays will show subluxation, juxta-articular osteoporosis, loss of joint space and bony erosions. A common site for erosions to be found in early rheumatoid arthritis is the fifth metatarsophalangeal joint. Blood tests should be taken for rheumatoid factor (present in rheumatoid arthritis) and anti-DNA antibodies (present in systemic lupus erythematosus). This patient should be given NSAIDs for analgesia and to reduce joint stiffness to allow her to continue her secretarial work. Disease-modifying drugs such as methotrexate, leflunomide, gold or penicillamine should be considered unless the patient settles easily on NSAIDs. Anti-tissue necrosis factor (TNF) antibody is effective in some severe cases of rheumatoid arthritis. KEY POINTS Rheumatoid arthritis tends to spare the distal interphalangeal joints. • Systemic symptoms of rheumatoid arthritis may precede the joint symptoms. • Anaemia and ESR correlate with disease activity. • NSAIDs may adversely affect renal function.
Orthopedic Surgery • General Medicine + 1 more
History A 63-year-old woman goes to her general practitioner (GP) complaining of extreme tiredness. She has been increasingly fatigued over the past year but in recent weeks she has become breathless on exertion, light-headed and complained of headaches. Her feet have become numb and she has started to become unsteady on her feet. She has had no significant previous medical illnesses. She is a retired teacher and lives alone. Until the last 2 years she was active, walking 3 or 4 miles a day. She is a non-smoker and drinks about 15 units of alcohol per week. She is taking no regular medication. Her mother and one of her two sisters have thyroid problems. Examination Her conjunctivae are pale and sclerae are yellow. Her temperature is 37.8°C. Her pulse rate is 96/min regular, and blood pressure 142/72 mmHg. Examination of her cardiovascular, respiratory and abdominal systems is normal. She has a symmetrical distal weakness affecting her arms and legs. Knee and ankle jerks are absent and she has extensor plantar responses. She has sensory loss in a glove and stocking distribution with a particularly severe loss of joint position sense. Questions • What is the diagnosis? • How would you investigate and manage this patient? ANSWER This patient has a severe macrocytic anaemia and neurological signs due to vitamin B12 deficiency. There is a family history of thyroid disease. This can cause a macrocytic anaemia but not to this degree, and hypothyroidism would not explain the other features. Anaemia reduces tissue oxygenation and therefore can affect most organ systems. The symptoms and signs of anaemia depend on its rapidity of onset. Chronic anaemia causes fatigue and pallor of the mucous membranes. Cardiorespiratory symptoms and signs include breathlessness, chest pain, claudication, tachycardia, oedema and other signs of cardiac failure. Gastrointestinal symptoms include anorexia, weight loss, nausea and constipation. There may be menstrual irregularities and loss of libido. Neurological symptoms include headache, dizziness and cramps. There may be a low-grade fever. In pernicious anaemia, the MCV can rise to 100–140fL, and oval macrocytes are seen on the blood film. The reticulocyte count is inappropriately low for the degree of anaemia. The white cell count is usually moderately reduced. There is often a mild rise in serum bilirubin giving the patient a ‘lemon-yellow’ complexion. As in this patient,profound vitamin B12 deficiency also causes a peripheral neuropathy and subacute degeneration of the posterior columns and pyramidal tracts in the spinal cord, causing a sensory loss and increased difficulty walking. The peripheral neuropathy and pyramidal tract involvement produce the combination of absent ankle jerks and upgoing plantars. In its most extreme form it can lead to paraplegia, optic atrophy and dementia. Vitamin B12 is synthesized by microorganisms and is obtained by ingesting animal or vegetable products contaminated by bacteria. After ingestion, it is bound by intrinsic factor, synthesized by gastric parietal cells, and this complex is then absorbed in the terminal ileum. Vitamin B12 deficiency is most commonly of a gastric cause (pernicious anaemia due to an autoimmune atrophic gastritis; total gastrectomy), bacterial overgrowth in the small intestine destroying intrinsic factor, or a malabsorption from the terminal ileum (surgical resection; Crohn’s disease). Differential diagnoses of macrocytic anaemia! • Folate deficiency • Excessive alcohol consumption • Hypothyroidism • Certain drugs, e.g. azathioprine, methotrexate • Primary acquired sideroblastic anaemia and myelodysplastic syndromes • Vitamin B12 deficiency may occur in strict vegetarians who eat no dairy produce. • Typical neurological signs are position and vibration sense impairment in the legs, absent reflexes and extensor plantars. • Overenthusiastic blood transfusion should be avoided since it can provoke cardiac failure in vitamin B12 deficiency. KEY POINTS A full dietary history should be taken. Vegans who omit all animal products from their diet often have subclinical vitamin B12 deficiency. Serum vitamin B12 and folate levels should be measured and antibodies to intrinsic factor and parietal cells should be assayed. Intrinsic factor antibodies are virtually specific for pernicious anaemia but are only present in about 50 per cent of cases. Parietal cell antibody is present in 85–90 per cent of patients with pernicious anaemia but can also occur in patients with other causes of atrophic gastritis. A radioactive B12 absorption test (Schilling test) distinguishes gastric from intestinal causes of deficiency. Rapid correction of vitamin B12 is essential using intramuscular hydroxycobalamin to prevent cardiac failure and further neurological damage.
General Medicine • Clinical Immunology + 1 more
History A 64-year-old investments manager is causing increasing concern to his wife owing to increasing forgetfulness and irritability. His mother died 3 years previously from Alzheimer’s disease, and his wife is concerned that he is dementing. She had also noticed that he has been drinking more fluid and getting up 2–3 times in the night to pass urine. She persuaded him to see their general practitioner (GP) who found no symptoms of prostatism, and no other relevant past or family history. There was no objective evidence of dementia, and physical examination was normal, including rectal examination. Investigations showed normal urine, fasting blood glucose, urea, creatinine and electrolytes. A wait and see policy was advised with as much reduction in stress as possible and adequate sleep. Over the next 2 months his colleagues begin to question his performance, then one day at work he collapses with severe and sudden-onset left loin pain, radiating down the left flank to his groin and left testicle. The pain is colicky and accompanied by nausea and vomiting. He is taken to the emergency department. Questions • What is the likely diagnosis? • What other investigations would you perform? ANSWER The acute abdominal pain and the haematuria indicate ureteric colic due to a renal stone. The polyuria and polydipsia and the mental changes point to hypercalcaemia causing all three problems. His serum calcium was raised at 3.3mmol/L (normal range: 2.12–2.65mmol/L), corrected for serum albumin concentration, the phosphate was reduced at 0.6mmol/L (normal range: 0.8–1.45mmol/L)) and the alkaline phosphatase raised at 587IU/L (normal range: 30–300IU/L ). This combination of abnormal bone chemistry indicates hyperparathyroidism as the cause of the hypercalcaemia, confirmed by a raised serum parathormone (PTH), and a radio-isotope scan showing a single parathyroid tumour. Other investigations were a renal ultrasound showing a normal urinary tract with no detectable stones. It was assumed that the patient had passed a small stone at the time of the ureteric colic and haematuria. A skeletal X-ray survey was normal, showing no bony metastases and no bony changes of hyperparathyroidism. Hypercalcaemia of any cause can cause polyuria and polydipsia, and can affect mental function. Long-standing hypercalcaemia (therefore not usually in the case of malignancy) also causes renal stones. For some reason primary hyperparathyroidism causes either stones or bone disease, rarely both together. Metabolic causes of dementia! • Hypothyroidism • Vitamin B12 deficiency • Uraemia • Hypercalcaemia KEY POINTS! • Underlying causes of mental disease must be sought and not ascribed to ageing. • In a patient with a history of ureteric colic, failure to demonstrate stone(s) in the urinary tract does not exclude nephrolothiasis.
General Medicine • Nephrology + 1 more