First impressions

First impressions of a patient’s condition must be deliberately sought; they cannot be passively acquired. Make a conscious point of assessing the patient’s general condition right at the start. The specific changes that occur in particular illnesses (e.g. myxoedema) will be discussed in detail in the appropriate chapters. However, certain abnormalities should be obvious to the trained or training doctor.

First, decide how sick the patient seems to be: that is, does he or she look generally ill or well? The cheerful person sitting up in bed reading Proust (Figure 3.1) is unlikely to require urgent attention to save his life. At the other extreme, the patient on the verge of death may be described as in extremis or moribund. The patient in this case may be lying still in bed and seem unaware of the surroundings. The face may be sunken and expressionless, respiration may be shallow and laboured; at the end of life, respiration often becomes slow and intermittent, with longer and longer pauses between rattling breaths.

When a patient walks into the consulting room or undresses for the examination, there is an opportunity to look for problems with mobility and breathlessness.

Apart from gaining a general impression of a patient’s state of health, certain general physical signs must be sought.

Vital signs

Certain important measurements must be made during the assessment of the patient. These relate primarily to cardiac and respiratory function, and include pulse, blood pressure, temperature and respiratory rate. For example, an increasing respiratory rate has been shown to be an accurate predictor of respiratory failure.⁶ Patients in hospital may have continuous ECG and pulse oximetry monitoring on display on a monitor; these measurements may be considered an extension of the physical examination.

The vital signs must be assessed at once if a patient appears unwell. Patients in hospital have these measurements taken regularly and charted. They provide important basic physiological information.

Facies

A specific diagnosis can sometimes be made by inspecting the face, its appearance giving a clue to the likely diagnosis. Other physical signs must usually be sought to confirm the diagnosis. Some facial characteristics are so typical of certain diseases that they immediately suggest the diagnosis, and are called the diagnostic facies (Table 3.1 and Figure 3.2). Apart from these, there are several other important abnormalities that must be looked for in the face.

TABLE 3.1 Some important diagnostic facies

Amiodarone (anti-arrhythmic drug)—deep blue discoloration around malar area and nose

Acromegalic (page 307)

Cushingoid (page 309)

Down syndrome (page 314)

Hippocratic (advanced peritonitis)—eyes are sunken, temples collapsed, nose is pinched with crusts on the lips and the forehead is clammy (page 27)

Marfanoid (page 50)

Mitral (page 57)

Myopathic (page 391)

Myotonic (page 392)

Myxoedematous (prolonged hypothyroidism) (page 305)

Pagetic (page 320)

Parkinsonian (page 396)

Ricketic (page 314)

Thyrotoxic (page 302)

Turner’s syndrome (page 314)

Uraemic (page 207)

Virile facies (page 315)

Pallor

A deficiency of haemoglobin (anaemia) can produce pallor of the skin and should be noticeable, especially in the mucous membranes of the sclerae if the anaemia is severe (less than 70 g/L of haemoglobin). Pull the lower eyelid down and compare the colour of the anterior part of the palpebral conjunctiva (attached to the inner surface of the eyelid) with the posterior part where it reflects off the sclera. There is usually a marked difference between the red anterior and creamy posterior parts (see Figure 13.3a, page 425). This difference is absent when significant anaemia is present. Although this is at best a crude way of screening for anaemia, it can be specific (though not sensitive) when anaemia is suspected for other reasons as well (Good signs guide 3.1). It should be emphasised that pallor is a sign, while anaemia is a diagnosis based on laboratory results.

Good signs guide 3.1 Anaemia

Sign	Positive LR*	Negative LR†
Pallor at multiple sites	4.5	0.7
Facial pallor	3.8	0.6
Palm crease pallor	7.9	NS
Conjunctival pallor	16.7	−

NS = not significant.

^* Positive likelihood ratio: when the finding is present, describes the probability change. The higher the LR is above 1, the more likely there is disease.

^† Negative likelihood ratio: when the finding is absent, describes the probability change. The closer the LR is to 0, the more likely there is not disease.

From McGee S, Evidence-based physical diagnosis, 2nd edn. St Louis: Saunders, 2007.

Facial pallor may also be found in shock, which is usually defined as a reduction of cardiac output such that the oxygen demands of the tissues are not being met (Table 3.3). These patients usually appear clammy and cold and are significantly hypotensive (have low blood pressure) (page 27). Pallor may also be a normal variant due to a deep-lying venous system and opaque skin.

TABLE 3.3 Causes of shock

1. Hypovolaemia • External fluid loss, e.g. blood, vomitus, diarrhoea, urine, burns, excess sweating • Sequestration of body fluids in the abdomen (e.g. ascites), chest (e.g. haemothorax) or limbs (e.g. fracture)

3 Massive pulmonary embolus 4 Sepsis, e.g. gram-negative bacteria (endotoxin) 5 Anaphylaxis 6 Endocrine failure, e.g. adrenal failure, hypothyroidism 7 Neuropathic—from drugs (e.g. antihypertensives, anaesthesia), spinal cord injury of autonomic neuropathy

Hair

Bearded or bald women and hairless men not uncommonly present to doctors. These conditions may be a result of more than the rich normal variations of life, and occasionally are due to endocrine disease (Chapter 10).

Weight, body habitus and posture

Look specifically for obesity. This is most objectively assessed by calculation of the body mass index (BMI), where the weight in kilograms is divided by the height in metres squared. Normal is less than 25°kg/m². A BMI of ≥ 30 indicates frank obesity. Morbid obesity is a BMI ≥40. Medical risks are increasingly recognised in association with obesity (Table 3.4).

TABLE 3.4 Medical conditions associated with obesity (BMI ≥ 30)

Endocrine Type 2 diabetes Amenorrhoea Dyslipidaemia Infertility Polycystic ovary syndrome Hypogonadism

There are racial differences in BMIs associated with medical risk. Australian Aboriginals and Asians may have increased medical risk once the BMI exceeds 20.

The waist–hip ratio (WHR) is also predictive of health risk. This measurement is of the circumference of the waist (at the midpoint between the costal margin and the iliac crest) divided by that at the hips (at the widest part around the buttocks). Increased risk occurs when this exceeds 1.0 for men and 0.85 for women. Simple waist measurement correlates with the risks of obesity. A female waist circumference of more than 88 cm or male circumference of more than 102 cm indicates increased risk. These measurements can usefully be made repeatedly and recorded.

Severe underweight (BMI <18.5) is called cachexia.⁸ Look for wasting of the muscles, which may be due to neurological or debilitating disease, such as malignancy.

Note excessively short or tall stature, which may be rather difficult to judge when the patient is lying in bed (page 313). Inspect for limb deformity or missing limbs (rather embarrassing if missed in viva voce examinations) and observe if the physique is consistent with the patient’s stated chronological age. A number of body shapes are almost diagnostic of different conditions (Table 3.5). If the patient walks into the examining room, the opportunity to examine gait should not be lost: the full testing of gait is described in Chapter 11.

TABLE 3.5 Some body habitus syndromes

Endocrine Acromegaly (Figure 10.9) Cushing’s syndrome (Figure 10.12) Hypopituitarism (page 306) Pseudohypoparathyroidism (Figure 10.14) Rickets Paget’s disease (Figure 10.24)

Musculoskeletal Marfan’s syndrome (Figure 4.8) Turner’s syndrome Klinefelter’s syndrome (page 316) Achondroplasia (page 314)

Hydration

Although this is not easy to assess, all doctors must be able to estimate the approximate state of hydration of a patient.^9–11 For example, a severely dehydrated patient is at risk of death from developing acute renal failure, while an overhydrated patient may develop pulmonary oedema.

For a traditional assessment of dehydration (Table 3.6), inspect for sunken orbits, dry mucous membranes and the moribund appearance of severe dehydration. Reduced skin turgor (pinch the skin: normal skin returns immediately on being released) occurs in moderate and severe dehydration (this traditional test is not of proven value, especially in the elderly, whose skin may always be like that). The presence of dry axillae increases the likelihood of dehydration and a moist tongue reduces the likelihood, but the other signs are in fact of little proven value (Good signs guide 3.2).

TABLE 3.6 Classical physical signs of dehydration (of variable reliability—see Good signs guide 3.2)

Mild (<5%): = 2.5 L deficit Mild thirst Dry mucous membranes Concentrated urine

Note: Total body water in a man of 70 kg is about 40 L.

Good signs guide 3.2 Hypovolaemia

Sign	Positive LR	Negative LR
Dry axillae	2.8	NS
Dry mucous membranes; nose and mouth	NS	0.3
Sunken eyes	NS	0.5
Confusion	NS	NS
Speech not clear	NS	0.5

NS = not significant.

From McGee S, Evidence-based physical diagnosis, 2nd edn. St Louis: Saunders, 2007.

Take the blood pressure (page 54) and look for a fall in blood pressure when the patient sits or stands up after lying down. The patient should stand, if he or she can, for at least 1 minute before the blood pressure is taken again (the inability of the patient to stand because of postural dizziness is probably a more important sign than the blood pressure difference). This is called postural hypotension. An increase in the pulse rate of 30 or more, when the patient stands, is also a sign of hypovolaemia.

Weigh the patient. Following the body weight daily is the best way to determine changes in hydration over time. For example, a 5% decrease in body weight over 24 hours indicates that about 5% of body water has been lost (use the same set of scales).

Assessment of the patient’s jugular venous pressure is one of the most sensitive ways of judging intravascular volume overload, or overhydration (see Chapter 4).

The hands and nails

Changes occur in the hands in many different diseases. It is useful as an introduction to shake a patient’s hand when meeting him or her. Apart from being polite, this may help make the diagnosis of dystrophia myotonica, a rare muscle disease in which the patient may be unable to let go. Shaking hands is also an acceptable and gentle way of introducing the physical examination. Physical examination is an intrusive event that is tolerated only because of the doctor’s (and even the medical student’s) professional and cultural standing.

There is probably no subspecialty of internal medicine in which examination of the hands is not rewarding. The shape of the nails may change in some cardiac and respiratory diseases, the whole size of the hand may increase in acromegaly (page 307), gross distortion of the hands’ architecture occurs in some forms of arthritis (page 250), tremor or muscle wasting may represent neurological disease (page 354), and pallor of the palmar creases may indicate anaemia (Table 3.7). These and other changes in the hands await you later in the book.

TABLE 3.7 Nail signs in systemic disease

Nail sign	Some causes	Page no.
Blue nails	Cyanosis, Wilson’s disease, ochronosis	25
Red nails	Polycythaemia (reddish-blue), carbon monoxide poisoning (cherry-red)	236
Yellow nails	Yellow nail syndrome	132
Clubbing	Lung cancer, chronic pulmonary suppuration, infective endocarditis, cyanotic heart disease, congenital, HIV infection, chronic inflammatory bowel disease, etc.	50
Splinter haemorrhages	Infective endocarditis, vasculitis	50
Koilonychia (spoon-shaped nails)	Iron deficiency, fungal infection, Raynaud’s disease	224
Pale nail bed	Anaemia	224
Onycholysis	Thyrotoxicosis, psoriasis	301
Non-pigmented transverse bands in the nail bed (Beau’s lines)	Fever, cachexia, malnutrition	208
Leuconychia (white nails)	Hypoalbuminaemia	159
Transverse opaque white bands (Muehrcke’s lines)	Trauma, acute illness, hypoalbuminaemia (also caused by chemotherapy)	208
Single transverse white band (Mees’ lines)	Arsenic poisoning, renal failure (also caused by chemotherapy or severe illness)	208
Nailfold erythema and telangiectasia	Systemic lupus erythematosus	282
‘Half and half nails’ (proximal portion white to pink and distal portion red or brown: Terry’s nails)	Chronic renal failure, cirrhosis	208

Temperature

The temperature should always be recorded as part of the initial clinical examination of the patient. The normal temperature (in the mouth) ranges from 36.6°C to 37.2°C (98°F to 99°F) (Table 3.8). The rectal temperature is normally higher and the axillary and tympanic temperature lower than the oral temperature (Table 3.8). In very hot weather the temperature may rise by up to 0.5°C. Patients who report they have a fever are usually correct, as is a mother who reports that her child’s forehead is warm and that fever is present (Good signs guide 3.3).

TABLE 3.8 Average temperature values

	Normal	Fever
Mouth	36.8°C	>37.3°C
Axilla*	36.4°C	>36.9°C
Rectum	37.3°C	>37.7°C

^* Tympanic temperatures are similar to axillary ones.

Good signs guide 3.3 Fever

Sign	Positive LR	Negative LR
Patient says has fever	4.9	0.2
Warm forehead	2.5	0.4

From McGee S, Evidence-based physical diagnosis, 2nd edn. St Louis: Saunders, 2007.

There is a diurnal variation; body temperature is lowest in the morning and reaches a peak between 6.00 and 10.00 p.m. The febrile pattern of most diseases follows this diurnal variation. The pattern of the fever (pyrexia) may be helpful in diagnosis (Table 3.9).

TABLE 3.9 Types of fever

Type	Character	Examples
Continued	Does not remit	Typhoid fever, typhus, drug fever, malignant hyperthermia
Intermittent	Temperature falls to normal each day	Pyogenic infections, lymphomas, miliary tuberculosis
Remittent	Daily fluctuations >2°C, temperature does not return to normal	Not characteristic of any particular disease
Relapsing	Temperature returns to normal for days before rising again	Malaria:
		Tertian—3-day pattern, fever peaks every other day (Plasmodium vivax, P. ovale); Quartan—4-day pattern, fever peaks every 3rd day (P. malariae)
		Lymphoma:
		Pel-Ebstein* fever of Hodgkin’s disease (very rare)
		Pyogenic infection

Note: The use of antipyretic and antibiotic drugs has made these patterns unusual today.

^* Pieter Pel (1859−1919), Professor of Medicine, Amsterdam; Wilhelm Ebstein (1836–1912), German physician

Very high temperatures (hyperpyrexia, defined as above 41.6°C) are a serious problem and may result in death. The causes include heat stroke from exposure or excessive exertion (e.g. in marathon runners), malignant hyperthermia (a group of genetically determined disorders in which hyperpyrexia occurs in response to various anaesthetic agents [e.g. halothane] or muscle relaxants [e.g. suxamethonium]), the neuroleptic malignant syndrome, and hypothalamic disease.

Hypothermia is defined as a temperature of less than 35°C. Normal thermometers do not record below 35°C and therefore special low-reading thermometers must be used if hypothermia is suspected. Causes of hypothermia include hypothyroidism and prolonged exposure to cold (page 304).

Smell

Certain medical conditions are associated with a characteristic odour.¹² These include the sickly sweet acetone smell of the breath of patients with ketoacidosis, the sweet smell of the breath in patients with liver failure, the ammoniacal fish breath (‘uraemic fetor’) of kidney failure and, of course, the stale cigarette smell of the patient who smokes. This smell will be on his or her clothes and even on the referral letter kept in a bag or pocket next to a packet of cigarettes. The recent consumption of alcoholic drinks may be obvious and ‘bad breath’, although often of uncertain cause, may be related to poor dental hygiene, gingivitis (infection of the gums) or nasopharyngeal tumours. Chronic suppurative infections of the lung can make the breath and saliva foul-smelling. Skin abscesses may be very offensive, especially if caused by anaerobic organisms or Pseudomonas spp. Urinary incontinence is associated with the characteristic smell of stale urine, which is often more offensive if the patient has a urinary tract infection. The smell of bacterial vaginosis is usually just described as offensive. Severe bowel obstruction and the rare gastrocolic fistula can cause faecal contamination of the breath when the patient belches. The black faeces (melaena) caused by gastric bleeding and the breakdown of blood in the gut has a strong smell, familiar to anyone who has worked in a ward for patients with gastrointestinal illnesses. The metallic smell of fresh blood, sometimes detectable during invasive cardiological procedures, is very mild by comparison.

Preparing the patient for examination

An accurate physical examination is best performed when the examining conditions are ideal. This means that, if possible, the patient should be in a well-lit room (preferably daylight) from which distracting noises and interruptions have been excluded (rarely possible in busy hospital wards). Screens must be drawn around patients before they are examined. Consulting rooms and outpatient clinics should be set up to ensure privacy and comfort for patients.

Patients have a right to expect that students and doctors will have washed their hands or rubbed them with anti-microbial hand sanitisers before they perform an examination. This is as important in clinics and surgeries as in hospital wards. Many hospitals now have notices telling patients that they may ask their doctors if their hands have been washed.

The examination should not begin until permission has been asked of the patient and the nature of the examination has been explained.

The patient must be undressed so that the parts to be examined are accessible. Modesty requires that a woman’s breasts be covered temporarily with a towel or sheet while other parts of the body are being examined. Male doctors and students should be accompanied by a female chaperone when they examine a woman’s pelvis, rectum or breasts. Both men and women should have the groin covered—for example, during the examination of the legs. Outpatients should be provided with a gown to wear. However, important physical signs will be missed in some patients if excessive attention is paid to modesty.

The position of the patient in bed or elsewhere should depend on what system is to be examined. For example, a patient’s abdomen is best examined if he or she lies flat with one pillow placed so that the abdominal muscles are relaxed. This is discussed in detail in subsequent chapters.

Within each of the examining systems, four elements comprise the main parts of the physical examination: looking—inspection; feeling—palpation; tapping—percussion; and listening—auscultation. For many systems a fifth element, assessment of function, is added. Measuring is also relevant in some systems. Each of these will be discussed in detail in the following chapters.

Evidence-based clinical examination

History taking and physical examination are latecomers to evidence-based medicine. There are big efforts in all areas of medicine to base practice on evidence of benefit.

By their nature, physical signs tend to be subjective and one examiner will not always agree with another. For example, the loudness of a murmur or the presence or absence of fingernail changes may be controversial. There are often different accepted methods of assessing the presence or absence of a sign, and experienced clinicians will often disagree about whether, for example, the apex beat is in the normal position or not. Even apparently objective measurements such as the blood pressure can vary depending on whether Korotkov sound IV or V (page 55) is used, and from minute to minute for the same patient. Some physical signs are present only intermittently; the pericardial rub may disappear before students can be found in the games room to come and listen to it.

A way of looking at the usefulness of a sign or a test is to measure or estimate its specificity and sensitivity.

You may find it helpful to use the following mnemonics to help you remember this: SpIn = Specific tests when positive help to rule In disease and SnOut = Sensitive tests when negative help rule Out disease.

The perfect test or sign (if there were such a thing) is 100% sensitive and specific. A sign or test that is present or ‘positive’ in a person who does not have the condition is called a false positive. The absence of a sign, or a negative test, in a patient who has the condition is called a false negative. Another way of looking at this is the positive or negative predictive value of a test—that is, the probability that a positive result means the condition is present or that a negative result means it is absent.

The likelihood that a test or sign result will be a true positive or negative depends on the pre-test probability of the presence of the condition. For example, if splinter haemorrhages (page 50) are found in the nails of a well manual labourer they are likely to represent a false positive sign of infective endocarditis. This sign is not very sensitive or specific and in this case the pre-test probability of the condition is low. If splinters are found in a sick patient with known valvular heart disease and a new murmur, the sign is likely to be a true positive in this patient with a high pre-test probability of endocarditis. This pre-test probability analysis of the false and true positive rate is based on Bayes’ theorem.

A useful way to look at sensitivity and specificity is the likelihood ratio (LR). A positive LR,

indicates that the presence of a sign is likely to occur that much more often in an individual with the disease than in one without it. The higher the positive LR, the more useful is a positive sign. A negative likelihood ratio increases the likelihood that the disease is absent if the sign is not present.

Remember that if the LR is greater than 1 there is an increased probability of disease; if the LR is less than 1 there is a decreased probability of disease.

For example, the presence of a third heart sound in a patient who might have heart failure (e.g. breathlessness on exertion) has a positive likelihood ratio of 3.8 and a negative LR around 1. This means that a third heart sound is specific for heart failure (increases likelihood of the condition nearly four times) but not sensitive (the absence of a third heart sound does not reduce the likelihood).

All these figures are calculated on a population suspected of disease; it would be quite incorrect to apply them to an asymptomatic group of people. Fagan’s nomogram (Figure 3.3) can be used to apply LRs to clinical problems if the pre-test probability of the condition is known or can be estimated. Remember, positive LRs of 2, 5 and 10 increase the probability of disease by 15%, 30% and 45%, respectively. Similarly, negative LRs of 0.5, 0.2 and 0.1 decrease the probability of disease by 15%, 30% and 45% respectively.

When the pre-test probability is very low, even a high positive LR does not make the disease very likely. A line is drawn from the pre-test probability number through the known LR and ends up on the post-test probability number. For example, if the pre-test probability of the condition is low, say 10 (10%) and a sign is present which has an LR of 2, the post-test probability of the condition being present is only about 20%. We have included the LRs in tables of Good signs guides in most chapters of this book.