An Introduction to Medical Diagnosis (3)
Despite not actually having reading all that many books this year I’m way behind on blogging the books I’ve read, so I thought I might as well try to catch up a bit. You can find my previous coverage of the book here and here.
In this post I’ll cover the chapters about the musculoskeletal system, the endocrine system, and the breast.
“Disorders of the musculoskeletal system make up 20–25 per cent of a general practitioner’s workload and account for significant disability in the general population. […] The chief symptoms to identify in the musculoskeletal assessment are: *pain *stiffness *swelling *impaired function *constitutional [regarding constitutional symptoms, “Patients with arthritis may describe symptoms of fatigue, fever, sweating and weight loss”]. […] As a rule mechanical disorders (e.g. OA [Osteoarthritis], spondylosis, and tendinopathies) are worsened by activity and relieved by rest. In severe degenerative disease the pain may, however, be present at rest and disturb sleep. Inflammatory disorders tend to be painful both at rest and during activity and are associated with worsened stiffness after periods of prolonged rest. The patient may note that stiffness is relieved somewhat by movement. Both mechanical and inflammatory disorders may be worsened by excessive movement.”
“The lifetime incidence of lower back pain is about 60 per cent and the greatest prevalence is between ages 45 and 65 years. Over 90 per cent of low back pain is mechanical and self-limiting. […] Indicators of serious pathology in lumbar pain: ‘red flags’ of serious pathology that requires further investigation […] are: *presenting under age 20 and over age 55 years *prolonged stiffness (>6 weeks) *sudden onset of severe pain *pain that disturbs sleep (>6 weeks) *thoracic pain *nerve root symptoms – including spinal claudication (pain on walking resolved by rest), saddle numbness, and loss of bladder or bowel control *chronic persistent pain (>12 weeks) *weight loss *history of carcinoma.”
“Osteoarthritis is a chronic degenerative and mechanical disorder characterized by cartilage loss. It is the most common form of arthritis, estimated to affect 15 per cent of the population of the UK over the age of 55 years. It is second only to cardiovascular disease as a cause of disability. Weight-bearing joints are chiefly involved (e.g. facets in the spine, hip and knee). […] There is little evidence to link OA with repetitive injury from occupation, except perhaps knee bending in men. Dockers and miners have a higher incidence of knee OA.”
“Rheumatoid arthritis […] is the most common ARD [Autoimmune Rheumatic Diseases] and is characterized by the presence of a symmetrical destructive polyarthritis with a predisposition for the small joints of the hands, wrists and feet. It is more common in women than men and may present at any age though most often in the third to fourth decade. […] Onset is typically insidious and progressive pain, stiffness and symmetrical swelling of small joints occurs. Up to a third of patients may have a subacute onset with symptoms of fatigue, malaise, weight loss, myalgia, morning stiffness and joint pain without overt signs of swelling. A mono- or bilateral arthropathy of the shoulder or wrist may account for up to 30–40 per cent of initial presentations”
“[Osteoporosis] remains a significant cause of morbidity and mortality. Peak bone mass is usually achieved in the third decade and is determined by both genetic and environmental factors. After the age of 35 the amount of bone laid down is less than that reabsorbed during each remodelling cycle. The net effect is age-related loss of bone mass. Up to 15 per cent of bone mass can also be lost over the 5-year period immediately post menopause. Symptomless reduction in bone mass and strength results in an increased risk of fracture; it is the resulting fractures that lead to pain and morbidity. Major risk factors to be considered in osteoporosis are: *race (white or Asian > African Caribbean) *age *gender *family history of maternal hip fracture *previous low trauma fracture (low trauma defined as no greater than falling from standing height) *long-term use of corticosteroids *malabsorption disorders *endocrinopathies […] *inflammatory arthritis […] Other risk factors include: *low body mass index […] *late menarche and early menopause *nulliparity *reduced physical activity *low intake of calcium (below 240 mg daily) *excess alcohol intake *smoking *malignancy (multiple myeloma).”
“Infection may give rise to systemic inflammatory arthritis or vasculitis. The condition ‘reactive arthritis’ is also recognized. […] It is usually triggered by sexually transmitted infection such as with Chlamydia trachomatis. The acute inflammatory reaction is treated with NSAIDs and corticosteroids and often ‘burns out’ after 6–18 months [Had to read that one twice: 18 months…]. It may leave lasting joint damage. […] Septic arthritis constitutes an acute emergency. The presentation is usually one of a rapid onset of severe pain in a hot swollen joint, the pain so severe that the patient cannot bear for it to be touched or moved.”
“Focal pain, swelling, or a low trauma fracture in the spine or long bones should alert suspicion [of neoplasia]. Primary tumours of bone include the benign (but often very painful) osteoid-osteoma, chondromas, and malignant osteosarcoma. Metastatic carcinoma may be secondary to a primary lesion in the lung, breast, prostate, kidney or thyroid. Haematological malignancies including lymphomas and leukaemias may also lead to diffuse bone involvement.”
“Diabetes mellitus is becoming a major public health problem. This is particularly true for type 2 diabetes, the prevalence of which is increasing rapidly due to the association with obesity and physical inactivity. Much of the morbidity, and cost, of diabetes care is due to the associated complications, rather than directly to hyperglycaemia and its management. Thyroid disease and polycystic ovarian syndrome are also prevalent [endocrine] conditions. Most other endocrine disorders are uncommon”
“The classic triad of symptoms associated with diabetes mellitus consists of: *thirst *polyuria (often nocturia) *weight loss.
Many patients will also experience pruritus or balanitis, fatigue and blurred vision. Some people, particularly those with newly presenting type 1 diabetes diabetes mellitus (T1DM) or with marked hyperglycaemia in type 2 diabetes mellitus (T2DM), may have a ‘full house’ of symptoms, in which case it is generally not difficult to suspect the diagnosis. However, other patients, particularly those with only modestly elevated blood glucose concentrations in T2DM, will have fewer, milder symptoms, and some may be entirely asymptomatic. […] symptoms potentially suggestive of diabetes may have alternative causes, particularly in elderly people, for example, frequency and nocturia in an older man may be due to bladder outflow obstruction, and many medical disorders are associated with weight loss. The symptom complex of thirst, polydipsia and polyuria most commonly suggests a diagnosis of uncontrolled diabetes mellitus but can occur in other settings. Some patients taking diuretics will experience similar symptoms. A dry mouth, perhaps associated with drug usage (e.g. tricyclic antidepressants) or certain medical conditions (e.g. Sjögren’s syndrome), may lead to increased fluid intake in an attempt at symptom relief.”
“The blood glucose concentration at diagnosis is not useful as a guide to whether an individual patient has T1DM or T2DM. Patients with T1DM can be in severe ketoacidosis with a blood glucose less than 20 mmol/L, and even below 10 mmol/L on occasions, whereas T2DM can present with a hyperosmolar state with blood glucose levels over 50 mmol/L.”
“30–50 per cent of patients with newly diagnosed T2DM will already have tissue complications at diagnosis due to the prolonged period of antecedent moderate and asymptomatic hyperglycaemia. […] Diabetes mellitus is much more than a disorder of glucose metabolism. The complications of diabetes can affect many of the organ systems leading to associated cardiac, vascular, renal, retinal, neurological and other disorders.”
“Pain is one of the commonest presenting disorders in the female breast, occurring in both pre-and postmenopausal women. […] In most women, there is no obvious or serious underlying breast pathology present […] In males, pain is not uncommon in gynaecomastia (swelling of male breast). […] A discrete lump, nodularity or thickening is the next most common mode of presentation. Size may vary (frequently ‘pea-sized’), but can be large. Onset may be acute (several days) or longstanding (several months). Fluctuation with the menstrual cycle is common in young women. Pain and tenderness are features of cysts, less common with fibroadenomas (unless rapidly growing or phylloides tumours), uncommon with cancer, except with rapidly expanding, aggressive (grade 3) and inflammatory tumours. The commonest lump in women below 30 years is a fibroadenoma; in women 30–45 years, a cyst and those over 45 years, cancer. […] Careful assessment of a lump can indicate whether the breast lesion is benign or malignant: *if it is rounded, smooth, mobile, tense and tender it is most likely to be a cyst (30 to 45 years of age) *if it is rounded, smooth, mobile, firm and non-tender it is most likely to be a fibroadenoma (under 30 years of age) *malignant lumps are rare in women under 30 years and uncommon under 40 years (4 per cent of breast cancers). Cancers are usually irregular, firm or hard, with variable involvement of overlying skin or deeper structures.”
“Retraction (intermittent, partial or chronic) is often a concern to women. It can be idiopathic or associated with malignancy in the retroareolar region, but usually is seen in the postmenopausal breast and is secondary to glandular atrophy and replacement by fibrosis and major duct ectasia. Congenital absence is very rare, whereas accessory nipples are seen in 2 per cent of women.” [Again, I had to read that one twice. 2 %! Who knew! Also, this condition seems to be even more common in males (see the link above).]
“Five to 10 per cent of women will, at some stage, present with a macrocyst. Microcysts are more common but tend to be occult. Breast cysts are commonest between the ages of 35 and 50, but can occur outside this age range, particularly in women who have been taking HRT. […] Patients present with a palpable lump or nodularity. When acute and large, the lump can be tender and the patient complains of pain. Typically cysts are well-circumscribed, smooth, mobile and, on occasion, tender lumps.”
“Nipple discharge in premenopausal women is likely to be associated with, or be due to, benign disease. It is the predominant clinical feature in up to 10 per cent of women presenting with breast cancer. […] *Purulent and coloured discharges are usually indicative of benign disease (infection and fibrocystic disease, respectively). *Spontaneous bilateral milky discharge (multiple ducts) most commonly occurs in women of reproductive age and is called galactorrhoea. […] *Clear, serous or bloodstained discharges are not infrequently associated with neoplastic disease”
“Carcinoma of the breast is one of the most common cancers (23 per cent of all female malignancies in the developed world) […]. One in 10 women develops breast cancer during her lifetime. […] Breast cancer is very rare in women under the age of 25. About 4 per cent occur under the age of 40. There is a plateau in incidence between the ages of 45 and 55, and beyond 55 years it continues to increase steadily into the 80s. […] The most common (70 per cent) presentation is a palpable lump, nodularity or thickening in the breast, usually detected by the patient. Typically the lump is firm or hard, well defined, with an irregular surface. […] About 25 per cent of women in the UK present with large primary tumours […], or locally advanced breast cancers […]. In some cases, particularly elderly patients, the tumour may have been present for some time, but hidden by the patient from her relatives due to fear and anxiety […]. Occasionally patients may even deny the presence of a tumour as a psychological coping strategy. […] Breast cancer is the most common malignant condition occurring during pregnancy. The incidence is approximately 1 in 2500 pregnancies, and poses many medical and psychological problems, both for the woman and her relatives.”
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