Diagnostics Lecture Notes PDF

Diagnostics Yunfei Liao Endocrinology Dept of Union Hospital  Definition Diagnostics is a discipline that studies how to apply the basic theory, basic knowledge, basic skills and diagnostic thinking of diagnosis to patients  Types of clinical diagnosis 1、Etiol...

Diagnostics Yunfei Liao Endocrinology Dept of Union Hospital  Definition Diagnostics is a discipline that studies how to apply the basic theory, basic knowledge, basic skills and diagnostic thinking of diagnosis to patients  Types of clinical diagnosis 1、Etiological diagnosis Diagnosis is made based on etiological factors. beneficial for cure or prevention of the disease, the most ideal clinical diagnosis, try best to achieve it  Types of clinical diagnosis 2、Pathological diagnosis to clarify the location, feature, micro-structure alteration of the lesion 3、Pathophysiological diagnosis indicate functional change of the body  Types of clinical diagnosis 4、Symptomatic diagnosis based on the symptom or sign with undefined cause correct this diagnosis after clarification  Diagnostic principles 1、 try to explain all the main clinical manifestations with one disease， if not, other diseases or complications may exist  Diagnostic principles 2、 During Diagnosis, one should consider the common diseases first. Rare diseases can’t be made until (1) exclude the common diseases (2) definite diagnostic evidence  Diagnostic principles 3、 Organic diseases should be highly suspected when there is difficulty in differentiating it from innocent ones. The diagnosis of functional diseases must be cautious.  Diagnostic principles 4、 During diagnosis, consider curable diseases first rather than refractory or incurable ones.  Diagnostic principles 5、 when clinical manifestations disagree to lab findings  inaccurate history taking or wrong tests  check and verification  if no problem, the initial diagnosis may be wrong and should be corrected Contents  History Taking (Symptoms)  Physical examination (Sign)  Laboratory and auxiliary examination  etc  History Taking Obtaining an accurate history is the critical first step in determining the etiology of a patient's problem.  By interview  How to interview relaxed setting friendly manner selective guide non-special medical terms  History Taking 1. General data name race sex home address age telephone number marital status history teller occupation reliability birth place date of admission  History Taking 2. Chief complaints the main, the most striking symptoms or signs their main characteristics and duration short ( < 20 words ) and condensed sentence not include diagnostic terms or disease entities  History Taking 3. Present illness (1) onset: when and how it happened (2) main symptoms and their features (3) associated symptoms (4) consultation, treatment (kinds, dose, duration) and effectiveness (5) troubles resulted from the disease  History Taking 4. Past history (1) previous illnesses chronic (DM, hypertension, infectious diseases ) hospitalizations (illnesses, date and outcome) operations (type, date and outcome) major injuries (2) allergies to food, drug, contact substances  History Taking 5. Menstrual history age of menarche 6. Marital history 7. Childbearing history (Obstetric history) eg. G3P1A2 ( Gravida, Pava, Abortion ) 8. Family history health status of the client’s relatives and spouse  History Taking 9. Systems review (1) general health status fatigue, weakness, sweating, sleep patterns, BW (2) mouth ulcer, bleeding gum, sore throat, dysphagia (3) respiratory and cardiovascular systems cough, expectoration, hemoptysis, chest pain, wheezing, palpitation, dyspnea (4) digestive system anorexia, nausea, vomiting, abdominal distension, abdominal pain, diarrhea, constipation, hematemesis, (5) urinary system frequency, urgency, dysuria, hematuria, nocturia, urine retension or incontinence  History Taking 9. Systems review (6) hematopoietic system malaise, dizziness, skin and mucosa bleeding, osteodynia (7) metabolic and endocrine system polyphagia, poor appetite, polydipsia, polyuria, gain or loss of BW, profuse sweating (8) musculoskeletal system myosalgia, cramping, atrophy, joint swelling, limitation in joint range of motion (9) nervous system headache, migrain (hemicrania), dizziness, vertigo, consciousness, convulsion, paralysis  Physical examination Methods: Visual palpation, percussion, auscultation and olfaction 1. Visual inspection: an inspection method to observe the patient's general or local state by vision.  Physical examination 2. Palpation: The examiner finds out whether there is any abnormality in some part of the body through the feeling after the local contact between his hand and the subject's body surface or the response of the subject. It is most commonly used for abdominal examination. Light palpation Palpate deep gliding (Method) Deep palpation: double palpation Deep pressure palpation Physical examination  Physical examination 3. Percussion: tapping the body surface of the inspected part with fingers or palms to make it vibrate and produce sound. According to the vibration and sound characteristics heard, determine whether the organ is abnormal. It is divided into direct percussion and indirect percussion Attention method (demonstration method)  Physical examination Direct percussion Indirect percussion  Physical examination Percussion sound Because the density, elasticity, air content and distance from the body surface of the tissues or organs at the percussion site are different, the sound produced is different Divided into voiceless: normal lung Dullness: the relative dullness area of the heart and liver Solid sound: solid tissue - liver, heart, etc Drum sound: gastric bubble area and abdomen Over voiceless: emphysema  Physical examination 4. auscultation: It is an examination method to listen to the sounds from all parts of the body and judge whether they are normal or not. It is of great significance for cardiopulmonary examination. Method: Direct auscultation Indirect auscultation  Physical examination Cautions for auscultation The environment is quiet, warm and sheltered Proper posture and adequate exposure Use stethoscope correctly The body should be close to the inspected part Focus and eliminate interference Physical examination  Physical examination 5. Smelling: It is a test method to distinguish the abnormal smell from the patient and the relationship between the smell and the disease. Abnormal odor comes from: skin, mucous membrane, respiratory tract, gastrointestinal vomit or excreta, pus, blood. Common abnormal smell and its clinical significance  Physical examination Olfactory diagnosis Breathing smell: alcohol - moderate alcohol; Garlic flavor - organophosphorus poisoning; Rotten apple flavor - ketoacidosis; Ammonia - uremia; Liver fishy smell - liver faint Sputum: stinky sputum - bronchiectasis, lung abscess; Pus: malodorous gas gangrene; Vomits: fecal odor - pyloric obstruction, intestinal obstruction;  Laboratory and auxiliary examination Laboratory examination is the examination of the patient's blood, body fluids, secretions, excreta, cell samples and tissue samples by physical, chemical and biological laboratory methods, with the purpose of obtaining relevant information such as etiology, pathomorphology or organ function status  Laboratory and auxiliary examination Auxiliary examination is the application of various instruments, the relevant examination of the patient, such as electrocardiogram, lung function and various endoscopy. Fever  Contents Definition Pathophysiology Pathogenesis Etiology and classification Clinical manifestation and Diagnosis  Body Temperature Core body temperature is maintained within a narrow range around 36-37°C in normal individual. Body temperature varies slightly with different measurement methods.  The rectal temperature is about 0.3-0.5°C higher than that of the oral reading  The axillary temperature is about 0.2-0.4°C less than the oral value  Body Temperature Many physiological factors can influence the level of body temperature, including age, gender, time of day, ambient temperature and activity level  The body temperature in the elderly is lower than that in the younger individuals.  There is a circadian rhythm with lower temperatures in the morning and higher temperatures in the late afternoon with daily variation less than 1°C. Lowest: 4 a.m; Peak: 8~10 p.m  The body temperature may slightly rise after exercise, work stuff, meal, stress, before menstruation or during pregnancy.  Body Temperature  Internal body temperature is tightly regulated to maintain normal cellular function of vital organs,particularly the brain.  Deviation of temperature by more than 4 °C above or below normal can produce life-threatening cellular dysfunction.  Regulation of internal temperature is controlled by the hypothalamus which maintains a set-point for temperature.  Body Temperature  Regulated by the central nervous system  The body temperature is under control of the  Preoptic area of the anterior hypothalamus  Hypothalamus acts as the body's thermostat which regulates heat balance  Definition Fever is elevation of core body temperature resulting from upward resetting of the hypothalamic thermostatic set-point caused by pyrogens  Pathogenesis Pyrogens Elevated thermostatic set-point Maintaining an abnormally elevated Temperature BMR(basal metabolic rate) increases BMR 10% = T  0.6oC T  = Elevated set-point  Etiology and classification Many disorders including infectious and noninfectious diseases can cause elevation of body temperature.  Infectious causes  Noninfectious causes  Infectious fever Infectious fever is more common than noninfectious fever.  All pathogens can cause fever, including virus, bacteria, mycoplasma, spirochete, fungi, parasites and other microorganisms.  Bacteria pyrogens: Common cause of infective fever (43%)  Viral pyrogens: (6%)  Infectious fever Infectious fever is more common than noninfectious fever.  Both localized and systemic infection can induce fever.  Microbes and microbial products act as exogenous pyrogens which can stimulate endogenous pyrogen-generating cells to generate and release endogenous pyrogens leading to fever.  Non-infectious fever  Absorption of necrotic substances Injury Ischemic necrosis Cell necrosis  Allergy Antibiotics (penicillin-based)  Endocrine and metabolic disturbances Hyperthyroidism Dehydration  Non-infectious fever  Decreased elimination of heat from skin Heart failure Extensive dermatitis  Antigen antibody reaction Rheumatic fever Serum disease Connective tissue disease  Non-infectious fever  Dysfunction of central heat regulation Physical: heat stroke Chemical: barbiturate poisoning Mechanical: cerebral hemorrhage  Dysfunction of vegetative nervous system Sympathetic overactivity  Clinical manifestation Fever can be divided into four grades:  The grade of fever Low grade fever: 37.3~38℃ Middle grade fever: 38.1~39℃ High grade fever: 39.1~41℃ Very high fever: >41℃  Clinical manifestation  Clinical course of fever Onset Sudden onset Persistence Pneumonia Varies pattern Gradual onset Subsidence Typhoid Crisis Lysis  Fever Patterns  The patterns of temperature fluctuations may be a useful clue for the diagnosis and differential diagnosis of febrile illnesses.  It must be noted that fever patterns can be influenced by drug use and individual response.  Typical or specific patterns of fever in particular febrile diseases could be changed to atypical or irregular fever by the use of antibiotics, antipyretic drugs or glucocorticoids.  Fever Patterns Continued fever  The temperature remains above 39-40°C for days or weeks with daily temperature fluctuation less than 1°C  This pattern is commonly seen in the persistent febrile period of lobar pneumonia, typhoid or typhus.  Fever Patterns Remittent Fever  The t emperat ure rem a i n s a b o v e 3 9 ° C w i t h d a i l y temperature fluctuation more than 2°C and without any normal readings.  This pattern is commonly seen in rheumatic fever, severe tuberculosis, suppurative infection or infective endocarditis.  Fever Patterns Intermittent fever  The temperature rises abruptly to peak sustained for several hours and then decreases rapidly to normal followed by one or several days of no-fever period  This pattern of repeated cycles of episodes of fever and afebrile period is commonly seen in malaria, c tract infections  Fever Patterns Recurrent fever  The temperature abruptly rises up to or above 39°C and sustains high fever for days, then decreases suddenly to normal with several days of afebrile period.  This regular alternation of recurrent bouts of high fever and afebrile period is commonly seen in Hodgkin‘s disease or periodic fever.  Fever Patterns Undulant Fever  The temperature gradually rises up to or above 39°C for a few days and then gradually decreases to normal for several days.  This pattern of repeated cycles of fever is also called relapsing fever which is commonly seen in brucellosis, connective tissue diseases or tumor.  Fever Patterns Irregular Fever The pattern of temperature curve is irregular which is commonly seen in, rheumatic fever, bronchial pneumonia.  Fever patterns Fever Pattern Cause Alternate-day fever Plasmodium vivax, P. Ovale fever every third day P. Malaria Relapsing fever daily for 3~6 days Borrelia sp fever-free interval rat bite fever for about 1 week Continuous “undulating” Brucellosis, typhoid Periodic pyrexia Hodgkin’s disease (Pel-Ebstein Phenomenon) with variable cycles  Associated symptoms Rigor lobar pneumonia malaria septicemia drug fever acute cholecystitis acute hemolysis epidemic cerebrospinal meningitis transfusion reaction  Associated symptoms Rash scarlet fever rheumatic fever Rubella connective tissue diseases chicken pox (adult onset Still's disease) Typhus drug fever  Associated symptoms Mucocutaneous bleeding  severe infections  acute infectious diseases: epidemic hemorrhagic fever, viral hepatitis, typhus  hematological diseases: acute leukemia, aplastic anemia Associated symptoms Arthralgia  acute gout arthritis  infective arthritis  septicemia  scarlet fever  brucellosis  rheumatic fever  connective tissue diseases Associated symptoms Conjunctival congestion  Epidemic hemorrhagic fever  Typhus  Leptospirosis Associated symptoms Herpes acute febrile illnesses  lobar pneumonia  tertian malaria or influenza  History Taking  The onset of fever (slowly or abruptly),its grade and duration, the pattern of temperature fluctuation, frequency (intermittent or persistent), predisposition factors and season.  Whether it occurs with chills, rigors, sweating or night sweats...  History Taking  Review of systemic symptoms, such as cough, sputum, hemoptysis, chest pain; abdominal pain, vomiting and diarrhea; urinary frequency, urgency, rash, bleeding, headache, muscle pain.  General status including mental status, appetite, any change of weight, sleep, urination and defecation.  History Taking  Detail information about previous treatment, especially medication and their dosage, efficacy including antibiotics, antipyretics, corticosteroids.  History of exposure to infectious diseases and contaminated water, surgical history, history of miscarriage or childbirth.  Diagnostic points  Other symptoms  Duration and magnitude  Contacts with similar illness  Occupational, travel, recreational exposure  History of diseases  Current medication  Allergy  Fever of Unknown Origin (FUO)  FUO defined by Petersdorf and Beeson (1961)  Temperature ≥ 38.3℃ Repeatedly  Duration ≥ 3 weeks  No diagnosis after 1 week of inpatient investigation  Fever Case-1 A 50-year-old man got fever suddenly and last for 3 days.  Fever Case-1 Past history: anemia for 4 years Associated symptoms: cough , sputum , rigor Physical examination reveals : H 160cm,W 49kg, BP 100/60mmhg. HR 97bpm.R 30bpm pallor of the skin and mucous membrane moist crackles and decreased breath sound  Fever Case-1 Physical examination reveals : The temperature was about 39.1-39.5°C daily temperature fluctuation less than 1°C  Fever Case-1 Onset/ Fever pattern/ The grade of fever/ Associated symptoms… Onset：Sudden onset (3 days) Fever pattern: Continuous fever The grade of fever: High grade fever (39.1~39.5℃) Associated symptoms: cough, sputum , rigor  Fever Case-1 Infectious causes：bacteria Pneumonia WBC 16.8 ↑ 3.5-9.5G/L CRP 120 ↑ ＜8mg/l ESR 100 ↑ ＜20mm/h PCT 2.1 ↑ ＜0.5ng/ml  Summary  Fever: Elevation of thermostatic set-point  Pyrogen: Exogenous or endogenous  Etiology: Infective or noninfective  Fever types  Associated symptoms  Diagnostic points Edema  Definition Edema is a pathological phenomenon of excess fluid to gather in the interstitial space.  A pathologic process caused by diseases  The excessive accumulation of intestitial fluid  Not accompanied with cellular edema  Pathogenesis The body water is about 2/3 of the body weight. Distribution of total body water  2/3 is intracellular space  1/3 of total body water is extracellular space  extracellular space is composed of the intravascular plasma volume (25%) the extravascular interstitial spaces (75%)  Pathogenesis Two basic reasons for edema  firstly, an increase of extracellular fluid volume, much more liquid distributed in the interstitial space can cause edema  secondly, the imbalance of intravascular fluid exchange, the interstitial fluid generates more than reflux and result in edema.  Edema pretibial Pitting edema Non-pitting edema  Classification  Generalized edema  Localized edeme  Classification Generalized edema  Congestive heart failure  Nephrotic syndrome/other  Cirrhosis  Hypoalbuminemia  Drug-induced  Idiopathic  Classification Heart Failure  Occurs at lower part of the body (lower extremities)  Symmetric location  The presence of heart diseases  Cardiac enlargement  Gallop rhythm  Dyspnea  Basilar rales  Venous distention  Hepatomegaly  Classification Congestive heart failure Central venous Renal perfusion pressure renin Renal ADH vasoconstriction  Classification Congestive heart failure  Left-sided heart failure: shortness of breath with exertion and when lying down at night (orthophea)－－pulmonary edema  Right-sided heart failure: swelling in the legs and feet－－ peripheral edema  The physician examining a patient who has congestive heart failure with fluid retention looks for certain signs: pitting edema; rales in the lungs, a gallop rhythm and distended neck veins. 华中科技大学同济医学院附属协和医院  Classification Renal diseases  Hypoalbuminemia & Retention of sodium and water  Associated :  Hematuria  Proteinuria  Hypertention  Impaired renal functional test  Characteristic of edema edema in face periorbital area  Classification Nephrotic Syndrome/ Hypoalbuminemia  The primary alteration: decreased colloid oncotic pressure protein loss in the urine severe nutritional deficiency protein loss enteropathy congenital hypoalbuminemia  Promotes fluid move into the interstitium  Causes hypovolemia salt/water retention activation RAS axis etc  Classification Cardiac vs Renal disease Renal Cardiac Location onset from the face onset from the lower periorbital areas part of the body Progression progress quickly progress slowly Identity soft and mobile relatively solid/less mobile Other signs proteinuria signs of heart failure hypertension cardiac enlargement impaired renal venous distention functional test hepatomegaly  Classification Liver diseases (cirrhosis)  Clinical evidence of hepatic disease jaundice spider angiomas ascites  Ascites refractory to the treatment  Edema may also occur in other parts of the body due to: Hypoalbuminemia increased intraabdominal pressure impede venous return from the lower extremities 华中科技大学同济医学院附属协和医院  Classification Idiopathic edema  Increase in capillary permeability fluctuate in severity aggravated by hot weather  Reduction in plasma volume in this condition with secondary activation of the RAA system  Classification Drug-induced edema  Nonsteroidal anti-inflammatory drugs  Antihypertensive agents Direct arterial/arteriolar vasodilators Calcium channel antagonists a-Adrenergic antagonists  Steroid hormones Glucocorticoids Anabolic steroids Estrogens Progestin  Growth hormone  Immunotherapies Interleukin 2 OKT3 monoclonal antibody  Classification Other Causes of Edema  Hypothyroidism (myxedema, 粘液水肿) nonpitting  Exogenous hyper-adrenocorticism  Pregnancy 华中科技大学同济医学院附属协和医院  Classification Localized edeme Edema is caused by blocked local vein and lymph flow or increased capillary permeability  local inflammation and allergy  limb venous thrombosis  inferior vena cava obstruction syndrome  Approach to the patient Heart Generalized Liver Kidney or Venous obstruction Lymphatic obstruction Localized  Associated symptoms  Edema with proteinuria or hematuria is commonly caused by primary disease of the kidney, such as nephrotic syndrome， diabetic nephropathy.  Edema caused by autoimmune diseases is often associated with arthritis, skin changes, while mild proteinuria also visible in cardiogenic condition.  Associated symptoms  Edema with dyspnea and cyanosis often developed due to heart disease, superior vena cava syndrome and so on.  Myxedema is often associated with other clinical manifestations of thyroid hypofunction, such as apathy, afraid of the cold, appetite lack ,weight gain and so on.  Associated symptoms  Edema has a great relationship with menstrual cycle can seen in idiopathic edema.  Edema with insomnia, irritability and mental anxiety can be seen in the premenstrual tension syndrome.  History Taking  Time of edema occurs, triggers and precursor symptoms.  First symptomatic location and progression order, whether it is influenced by the body position, whether the patient have edema in face, lower limb and the waist and other parts.  History Taking  Progression speed of the edema, nature of edema whether it can be depressed.  Whether there are signs of infections and allergic reactions, and malnutrition.  Whether have the treatment of adrenal cortical hormones, estrogen, and other drugs.  History Taking  Accompanied symptoms local, skin color temperature, tenderness, rash and thickness  Gastrointestinal manifestations, liver disease jaundice and bleeding tendency  The urine color change, hypertension, urinary and renal function  History Taking  Whether there is flustered, shortness of breath, cough and expectoration diseases of the heart and lung.  Whether have appetite loss or weight change, afraid of the cold and unresponsive and constipation.  History Taking  Female patients should also be asked about the relationship between edema and menstruation, body position weather influences, and the symptom changes in the daytime and nighttime.  Summary-Diagnosis  Of particular importance is excluding major organ system dysfunction, especially cardiac, liver, and renal dysfunction.  Ask questions such as the following: Do the rings on your fingers get tight? Have you had to let your belt out? Have your clothes or shoes gotten too tight?  Pay special attention to the patient’s medications.  Also, obtain a precise dietary history, paying careful attention to the patient’s dietary sodium intake, total daily fluid intake.  Summary-Diagnosis  In addition to the standard physical examination, chart the patient’s weight and note general appearance, paying special attention to the edema with respect to location, symmetry, pitting or nonpitting appearance, tenderness, and associated skin changes.  Assess the severity of edema with a method such as the four-point scale (+1, slight, to +4, very marked)  Summary-Diagnosis  Including a chemistry panel and urine test to evaluate renal and liver function and albumin levels to assess nutritional status.  Consider measuring the thyrotropin level to rule out hypothyroidism. In cases where screening for a cardiac etiology is required, an ECG and chest radiograph may be helpful in assessing cardiac function.  Edema Case-1 e A 50-year-old man has a history of diffuse edema for 5 years. He presents to the hospital with worsening edema for a month. The edema began from the lower limbs and spreaded up to he chest and back, accompanied with dyspnea and difficulties in lying down. The symptoms responded to diuretics therapy.  Edema Case-1 e Past history: mitral valve replacement and aortic valve replacement for heart disease 30 years ago. Bp: 130/80mmHg, HR 113bpm，R 23bpm Physical examination reveals jugular venus distention. Dullness to percussion and decreased breath sounds in lower parts of both lungs The liver edge is palpated 4cm inferior to the rib with tenderness and shifting dullness is positive. pitting edema in both lower limbs and the abdominal wall  Edema Case-1 e Type / Site / Associated symptoms… Type：pitting/symmetric Site: onset from the lower to chest and back Progression: progress slowly Associated symptoms: dyspnea/difficulties in lying down  Classification Cardiac vs Renal disease Renal Cardiac Location onset from the face onset from the lower periorbital areas part of the body Progression progress quickly progress slowly Identity soft and mobile relatively solid/less mobile Other signs proteinuria signs of heart failure hypertension cardiac enlargement impaired renal venous distention functional test hepatomegaly  Edema Case-1 e Echocardiography: valvular heart disease BNP 500 ↑ ＜100pg/ml NT-pro BNP 975 ↑ ＜125pg/ml ejecion fraction(EF) 30 ↓ 50-75% Congestive heart failure  Edema Case-2 e A 45-year-old man has a history of edema for 3 months The edema sited the lower limbs ,accompanied with sensation of chill, weight gain.  Edema Case-2 e Past history: Hyperthyroidism for 4 years and got 131-I 1 year ago. Bp: 110/60mmhg. HR 67bpm Physical examination reveals non pitting edema in lower extremity (myxedema) FT3 3.98 ↓ 3.1~6.8pmol/L FT4 10.20 ↓ 12~22pmol/L TSH 100.1 ↑ 0.27~4.2mIU/L  Edema Case-2 e Type / Site / Associated symptoms… Type：non-pitting/ myxedema /symmetric Site: the lower extremity Hypothyroidism Progression: progress slowly Associated symptoms: sensation of chill, weight gain. Relieve: supply of thyroid hormone  Edema Case-3 e A 55-year-old female has a history of diffuse edema for 3 months. She presents to the hospital with worsening edema for 2 weeks. The edema began from the face periorbital area and spreaded down to lower limbs accompanied with oliguria. 华中科技大学同济医学院附属协和医院  Edema Case-3 e Past history: primary hypertension for 10 years with bad control of BP. Bp: 160/107mmHg, HR 90bpm，R 20bpm Physical examination reveals pitting edema in the face periorbital area and both lower limbs 华中科技大学同济医学院附属协和医院  Edema Case-3 e BUN 26.3 ↑ 2.5-6.1mmol/l CR 465 ↑ 46.0-92.0umol/l UA 436 ↑ 149-369umol/l eGFR 16 ↓ 90-120 24h protein 1567 ↑ 28-141mg/24h 华中科技大学同济医学院附属协和医院  Edema Case-3 e Type / Site / Associated symptoms… Type：pitting Site: face periorbital area Progression: progress quickly Associated symptoms: oliguria renal failure 华中科技大学同济医学院附属协和医院