The Family History - Tour Hosts Pty Limited
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The Family History - Tour Hosts Pty Limited

The setting• Royal Perth Hospital is a major tertiary teaching hospital inPerth, Western Australia• The SSMU accepts patients from the emergency departmentrequiring general medical care and a projected length of stayof three or less days• Typical SSMU admissions include atypical chest pain, infectiveexacerbations of asthma and emphysema, collapse ofunknown cause, vertigo, headaches, falls, non-surgicalabdominal pain, chest infections and urinary tract infections

Our approach• Reviewed 300 medical records of patients admitted to theSSMU, RPH between July and December 2007(50 cases per month selected randomly)• Included only patients confirmed admitted to SSMU• Background data was collected - age and gender, presentingcomplaints, past medical history, length of stay and dischargediagnoses• All family details recorded by emergency or SSMU staff werenoted• Additional family history details noted during the hospital staywere also recorded

Our approachFamily histories were ranked into three categories:1. Family history with some specific details recorded– Family history recorded details about the presence or absence of a medicalcondition in at least one relative– For example; “father T2DM”, “mother dead at 45 of stroke”2. Family history with summary information only– Family history mentioned; however insufficient details recorded to allowothers to assess summary comment– For example; “ family history nil”, “FHx of IHD”, “No FHx of hypertension”3. No family history details recorded– No documentation whether family history was considered

Our approach• Patients’ data were sub-categorised into three groups basedon age (less than 50 years, 50 to 74 years, and older than 74years)• Further analysis was performed for common specificpresenting complaints and past medical history• Family histories in which more than one generation of familymembers was mentioned, or in which the family history leadto a confirmed change in medical advice were specificallynoted

Results• 1807 statistical admissions over the six months• 165 females and 135 males• Average age 61.4 years, range 18-98, median 64 years• Mean length of stay was 2.29 days (range 1-16, median 1)

Presenting complaint on admission25262743811714748887NeurologicalChest painCough/Shortness of breathFeverNausea/Vomiting/DiarrhoeaAbdominal PainOther PainPalpitationsDysuriaLeg SwellingOther

Quality of family histories

Quality of family histories

Quality of family histories

Quality of family histories

Quality of family histories takenAll cases16.0%(48)10.3%(31)Specific family historySummary family historyNo family history73.7%(221)300 cases

Quality of family histories takenAge

Quality of family histories takenAge 50-7419.3%(21)11.0%(12)Specific family historySummary family historyNo family history69.7%(76)109 cases

Quality of family histories takenAge >743%(3)10.1%(10)Specific family historySummary family historyNo family history86.9%(86)99 cases

Family history for a presentingcomplaint of chest pain87 patients presented with chest pain as a symptom• 32 male, 55 female• average age 59.6 years• 29 (33.3%) had presence or absence of ischaemic heartdisease in family history documented

Quality of family history whenpresenting with chest painAll cases52.9%(46)27.6%(24)19.5%(17)Specific family historySummary family historyNo family history87 cases

Quality of family history whenpresenting with chest painAge

Quality of family history whenpresenting with chest painAge 50-7447.2%(17)19.4%(7)33.3%(12)Specific family historySummary family historyNo family history36 cases

Quality of family history whenpresenting with chest painAge >749.1%(2)72.7%(16)18.2%(4)Specific family historySummary family historyNo family history22 cases

Family histories recorded whenpresenting with chest pain• There was a higher level of family history documentation forpatients with chest pain as their presenting complaint,especially among those

Notable case41 year old man• Past medical history of hypertension and high cholesterol• Admitted to short stay for investigation of chest pain• Initial family history of “grandfather MI dead”• Repeat troponin positive and abnormal ECG; diagnosis ofinferolateral myocardial infarction and transfer to cardiology• FHx by cardiology of “mum, dad, aunts all IHD, grandfatherMI, first cousin MI

DiscussionTalley and O’Connor – Clinical Examination“ Ask about any history of a similar illness in the family.Inquire about health and, if relevant, causes of deathand ages of death of the parents and siblings.However, if there is any suggestion of an hereditarydisease a complete family tree should beconstructed...”

Discussion• Lack of documentation of family history in RPH SSMU patients– Almost three quarters of cases reviewed had nodocumentation of a family history– Improved rates for a presenting complaint of chest pain butstill >50% had no family history written in the notes– This is despite all cases being reviewed by at least 2 doctorsduring admission process• None of the 300 cases reviewed had a family tree documentedand only 5 covered two generations

DiscussionIt is the role of all doctors to not just treatillness but prevent its occurrence• Not taking a family history could miss helpful clues, leading toa fall in care both for the patient and their family• family history is a critical part of patient care, especially in thearea of preventative medicine

Frezzo et alDiscussion - two studies ofcomparison• Study of unselected internal medicine outpatients• A family pedigree or questionnaire identified 61.5% ofpatients as being at increased risk of adult onset disease,compared to only 39.7% identified by chart review alone• >20% of patients with identifiable health risks were thereforenot identified by the process of retrospective chart review

DiscussionStudy for comparision - Archeson et al• Direct observational study that reviewed 4454 patient visits ina primary care setting• Family history was discussed in 51% of new patient visits and22% of visits by established patients• Higher rates of family history taking in well patient visitsOur observations were comparable, with 26% of patientshaving their family history documented

• wide variation in rates of family history taking betweenphysicians from 0% to 81%

DiscussionWe identified lower rates of family historydocumentation for older patients• The study design did not permit identification of the reasonsfor this, however possible explanations include:– Limitations to the time available for family history in thepresence of increasing medically complex patients (moreacutely unwell?)– Lower perceived benefit from the family history for olderindividuals

DiscussionWhy is this component of the medical examinationbeing neglected?• Are we too focussed on the acute admit issues to thedetriment of longer term health issues for patient and family?• Do we have too little time, and is the family history the firstthing to go?• Is this really the skill base of our medical graduates or doesthis problem lie more with the structure of the hospitalsystem and the inherent time constraints?• Does this signify an issue with current teaching or a newevolving trend in medical practice?

Discussion• Is there a need to modify student teaching to emphasise theless “acute” areas of the family history?• Archeson et al found a trend to more family histories beingtaken by younger, residency trained medical practitioners,which if also true for the hospital inpatient setting wouldheighten concerns• Patients are more likely to be amenable to assessment oftheir genetic risk while in the hospital setting– Some inpatients are unlikely to present to primary healthcare and would otherwise miss primary health screening

• Retrospective auditStudy limitations– Unable to assess the possible gains from undertaking amore detailed family history– The cases reviewed may have had a detailed family historytaken but not documented• Only 300 files reviewed for the study over six months– may not have been an accurate sample of clinical practicein the medical unit• Study may not be applicable to other units in RPH– only emergency and SSMU doctors were assessed• Relevance to other hospitals difficult to quantify

Conclusions• Family histories are rarely documented on admission tohospital, and there is a need to improve the rate of familyhistory documentation, which will hopefully lead to improvedpatient care• Further research into hospital inpatient family historyrecording is needed to assess the limitations and benefits ofmore detailed documentation• Consideration should also be given to the benefits of a formalquestionnaire or integrated genetics counseling in medicalinpatients

References• Talley NJ, O’Connor S. Clinical Examination – A systematicguide to physical diagnosis. Churchill Livingstone, ThirdEdition 1996:8-9• Acheson LS, Wiesner GL, Zyzanski SJ, et al. Family historytaking in community family practice: implications for geneticscreening. Genet Med. 2000;2:180–5.

References1. Talley NJ, O’Connor S. Clinical Examination – A systematic guide to physicaldiagnosis. Churchill Livingstone, Fifth Edition 2005: 8-92. Yoon PW et al. Can family history be used as a tool for public health andpreventive medicine? Genetics in Medicine 2002; 4: 304-3103. Guttmacher AE, Collins FS. Genomic Medicine – A Primer. NEJM 2002;19:1512-15204. Qureshi N, Bethea J, Modell B, Brennan P, Papageorgiou A, Raeburn JA,Hapgood R and Modell M. Collecting genetic information in primary care:evaluating a new family history tool. Family Practice 2005; 22: 663–669.5. Wolpert SM. Surgeon General launches new public health campaign: thefamily history initiative. Journal of the American Academy of Physicians.2005 Jan;18(1):20-27. Frezzo TM, Rubinstein WS, Dunham D, Ormond KE. The genetic familyhistory as a risk assessment tool in internal medicine. Genetics in Med.2003; 5(2):84-91

PC on admissionPresenting ComplaintCasesChest pain 87Neurological 88Abdominal pain 26Other localised pain 25Fever 43Cough/Shortness of breath 74Dysuria 8Nausea/Vomiting/Diarrhoea 27Palpitations 11Leg swelling 7Other 14

FHx for a presenting complaintof chest painFamily HistoryQualityTotal(no./%)Age 74(no./%)Assessable 24 (27.6%) 10 (34.5%) 12 (33.3%) 2 (9.1%)Unassessable 17 (19.5%) 6 (20.7%) 7 (19.4%) 4 (18.2%)Absent 46 (52.9%) 13 (44.8%) 17 (47.2%) 16 (72.7%)Total 87 29 36 22

Notable cases with an absent orlimited family history• Case 2 – Mrs MS, 42 year old with history of Marfan’s Syndrome and past aortic valvereplacement. Presented with dizziness and discharged 2 days later after investigations with adiagnosis of postural hypotension. No family history taken• Missed opportunity to assess patient’s and family’s awareness of syndrome and risk to closerelatives• Case 25 – Mr RH, 41 year old admitted with chest pain on background hypertension and highcholesterol. Initial family history of “grandfather MI dead”. Repeat troponin positive andabnormal ECG; diagnosis of inferolateral MI and transferred to cardiology – FHx bycardiology of “mum, dad, aunts all IHD, grandfather MI, first cousin MI

Notable cases with an absent orlimited family history• Case 192 – Mrs ER, 55 year old with palpitations and chest pain/heaviness. Past medical history of hypothryoidism andimpaired glucose tolerance. Discharged same day with diagnosis of chest pain, cause unknown. No family history taken• Uncertain diagnosis, lost opportunity to obtain useful information from the family history• Case 197 – Mrs VF, 62 year old with vertigo and nausea/vomiting on a background of CADASIL syndrome, hypertension andasthma. CADASIL is a autosomal dominant condition that leads to multiple early strokes and cognitive decline. Diagnosedwith benign paroxysmal positional vertigo and discharged home after 2 days. No family history taken• No documented family history in a patient with an autosomal dominant genetic condition. Note however patient had mildcognitive impairment• Case 201 – Mr DK, 38 year old with cough and shortness of breath. Past history of cervical rib with subclavian veinthrombosis in 1993 as well as a history of asthma. Diagnosed with left subclavian thrombosis and pneumonia. No familyhistory taken• Young age for recurrent VTE. Family history would help clarify risks and assess benefit of thrombophilia screen• Case 216 – Mr JS, 50 year old presenting with chest pain and no past medical history. Diagnosis of atypical chest painpossibly secondary to reflux and discharged same day. No family history taken• No family history in a 50yo with chest pain and no definite discharge diagnosis• Case 238 – JS, 77 year old lady with palpitations, chest pain and shortness of breath. History of breast cancer (bilateralmastectomies) and metastatic ovarian cancer as well as ischaemic heart disease, hypercholesterolaemia, hypertension andTIAs. Family history noted of “breast cancer”. No further FHx taken• History suggestive of a genetic predisposition but lack of a more detailed family history prevents further investigation intorisk to immediate relatives

Cases with a detailed FHx or where extra FHxwas documented• Case 59 – Mr GC, 46 year old admitted with chest pain and background history of asthma and hypercholesterolaemia. Discharged one day later asatypical chest pain for further investigation. FHx – father AMI dead in his 50’s, grandfather dead of MI 70, mother T2DM and HTN• Useful family history that aided in diagnosis and highlighted other at risk family members• Case 166 – Mr KR, 49 year old with chest pain radiating to the back and a past medical history of lung nodule (investigated heavily in past) andchronic back pain. Diagnosis of atypical chest pain. FHx – mother angina early 60’s, now 72 and well, siblings alive and well, father deceased gastriccancer• Broad family history that also targeted the presenting complaint• Case 220 – Mr DW, 43 year old with headache and bilateral visual loss on background history of hypertension. Diagnosed with malignanthypertension. FHx – mother/father both alive and well, no FHx of HTN/ coronary disease, diabetes, stroke in family. Sisters all well• Family history helped clarify risk of essential versus malignant hypertension. Good example of value of negative findings• Case 275 – Mrs GS, 47 year old with retrosternal pleuritic chest pain. History of reflux disease. Diagnosed with pericarditis. FHx – father MI aged 74,well, aunt heart condition, mother DVT post-op in past• Broad family history in an unusual chest pain presentation• Case 295 – Mr RF, 58 year old with haematuria/dysuria and history of impaired glucose tolerance. Diagnosed with a urinary tract infection. FHx –father dead of lung cancer, mother deceased of colon cancer at 69. Pt advised to see GP re possible colonoscopy given FHx of cancer• The only family history that definitely changed medical management. Further history on age of onset could help clarify the benefits of colonoscopy• Case 85 – Mrs JC, 49 year old presenting with shortness of breath on background of coeliac disease. Diagnosis of upper respiratory tract infection andasthma exacerbation. No family history documented at admission but seen by consultant next morning – FHx of asthma in sister, sister with coeliacand deceased from small bowel lymphoma• Consultant input helped to clarify diagnosis of asthma and raised awareness of need for follow-up for patient’s coeliac disease• Case 191, Mrs TD, 35yo with hyperglycaemia while on prednisolone for an undiagnosed inflammatory arthropathy. PMHx of T2DM, hypertension,asthma, anxiety and anaemia. Admission FHx of “father T2DM”. Seen by endocrinology team – No family history of autoimmune disease, fatherT2DM at 50 on oral meds, mother well• More detailed family history by endocrine team helped clarify risks to patient and helped in investigation for cause of autoimmune disease•• In total, only five of the 300 files had a family history that documented at admission that mentioned two different generations in the family.

Family histories in patients with a pastmedical history of renal disease• 22 cases with a past medical history of renal disease• 8 male, 14 female, average age 69.8 years• Only 5 had a documented family history• None addressed the issue of renal disease in thefamily

Subgroup comparisonFamilyHistoryQualityChest painNeurologyPMHxcancerPMHxVTEPMHx renalAll CasesAssessable 24 (27.6%) 8 (9.1%) 1 (3.4%) 3 (17.6%) 3 (13.6%) 48 (16.0%)Unassessable 17 (19.5%) 5 (5.7%) 4 (13.8%) 1 (5.9%) 2 (9.1%) 31 (10.3%)Absent 46 (52.9%) 75 (85.2%) 24 (82.8%) 13 (76.5%) 17 (77.3%) 221 (73.7%)Case Numbers 87 88 29 17 22 300Avg age(years)59.6 68.4 74.1 61.8 69.8 61.4

Subgroup comparisonFamily HistoryQualityAll Cases Chest pain PMHx cancer PMHx VTEAssessable 48 (16.0%) 24 (27.6%) 1 (3.4%) 3 (17.6%)Unassessable 31 (10.3%) 17 (19.5%) 4 (13.8%) 1 (5.9%)Absent 221 (73.7%) 46 (52.9%) 24 (82.8%) 13 (76.5%)Case Numbers 300 87 29 17Avg age (years) 61.4 59.6 74.1 61.8

Family history quality• Age did appear to influence the frequency of amore detailed family history– In 74 years, only 13% had any family historydocumented, and only 3% of these were of anassessable standard• None of the 300 cases reviewed had a family treedocumented

Family histories in patients with aneurological presenting complaint• 88 cases with neurological symptoms as part of theirpresenting complaints• 41 male, 47 female• There were more presenting complaints than patients givenseveral had more than one neurological symptom• Note, patients presenting with neurological symptoms wereolder in age on average (68.4 years), and there was asubgroup of patients with altered conscious state

Patients presenting with neurological symptomsPresenting ComplaintsCasesCollapse/Loss of consciousness/Fall 40Vertigo/dizziness 24Headache 14Altered conscious state 6Limb weakness 6Seizure 2Other 5

Family histories taken for aneurological presenting complaintFamily HistoryQualityTotal(no./%)Assessable 8 (9.1%)Unassessable 5 (5.7%)Absent 75 (85.2%)Total 88

Family histories taken for aneurological presenting complaintFamily HistoryQualityTotal(no./%)Assessable 8 (9.1%)Unassessable 5 (5.7%)Absent 75 (85.2%)Total 88

Family histories taken for aneurological presenting complaintFamily HistoryQualityTotal(no./%)Age 74(no./%)Assessable 8 (9.1%) 5 (35.7) 3 (8.6%) 0Unassessable 5 (5.7%) 0 3 (8.6%) 2 (5.1%)Absent 75 (85.2%) 9 (64.3%) 29 (82.9%) 37 (94.9%)Total 88 14 35 39

Family histories taken for aneurological presenting complaintFamily HistoryQualityTotal(no./%)Age 74(no./%)Assessable 8 (9.1%) 5 (35.7) 3 (8.6%) 0Unassessable 5 (5.7%) 0 3 (8.6%) 2 (5.1%)Absent 75 (85.2%) 9 (64.3%) 29 (82.9%) 37 (94.9%)Total 88 14 35 39

Quality of family histories takenFHxQualityTotal(no./%)Age 74(no./%)Assessable 48 (16.0%) 24 (26.1%) 21 (19.3%) 3 (3.0%)Unassessable 31 (10.3%) 9 (9.8%) 12 (11.0%) 10 (10.1%)No familyhistory221 (73.7%) 59 (64.1%) 76 (69.7%) 86 (86.9%)Total 300 92 109 99

Subgroup comparisonFamilyHistoryQualityAll CasesAssessable 48 (16.0%)Unassessable 31 (10.3%)Absent 221 (73.7%)CaseNumbersAvg age(years)30061.4

Subgroup comparisonFamilyHistoryQualityAll Cases Chest pain NeurologyAssessable 48 (16.0%) 24 (27.6%) 8 (9.1%)Unassessable 31 (10.3%) 17 (19.5%) 5 (5.7%)Absent 221 (73.7%) 46 (52.9%) 75 (85.2%)CaseNumbersAvg age(years)300 87 8861.4 59.6 68.4

Subgroup comparisonFamilyHistoryQualityAll Cases Chest pain Neurology PMHx cancer PMHx VTEAssessable 48 (16.0%) 24 (27.6%) 8 (9.1%) 1 (3.4%) 3 (17.6%)Unassessable 31 (10.3%) 17 (19.5%) 5 (5.7%) 4 (13.8%) 1 (5.9%)Absent 221 (73.7%) 46 (52.9%) 75 (85.2%) 24 (82.8%) 13 (76.5%)CaseNumbersAvg age(years)300 87 88 29 1761.4 59.6 68.4 74.1 61.8

Subgroup comparison• Substantially more family histories were recordedamong patients with a presenting complaint of chestpain• Family histories were less frequently documented inpatients with neurological symptoms andsurprisingly also in those with a personal history ofcancer• Rates markedly worse for older age groups andthose with neurological symptoms or those with apast medical history of cancer

Family history for patients with a pastmedical history of cancer• 29 cases, (11 male, 18 female, average age74.1 years)• Only one patient was under 50 years of age,and this case had no family historydocumented• 24 (82.8%) had no family history documented• Only two out of the five documented familyhistories in this group addressed a familyhistory of cancer

Family history in patients with a history ofvenous thromboembolism• 17 cases patients with past medical history ofvenous thromboembolism (VTE)• 5 male, 12 female, average age 61.8 years• 13 had no documented family history• Family history documented in four cases, ofwhich 3 were assessable• Only one addressed a family history of VTE

Documented past medical historyPast Medical History Cases Past Medical History CasesHypertension 131 Cerebrovascular disease 28Respiratory 103 Peripheral vascular disease 20Hypercholesterolaemia 78 Alcohol excess/IV drug use 23Diabetes/Impairedglucose tolerance68 Venous Thromboembolism 17Ischaemic Heart Disease 63 Renal disease 16Cardiovascular - Other 55 Dementia/poor cognition 13Anxiety/Depression 36 Auto immune conditions 11Neurological - Other 30 Haematological 8Cancer 29 Psychiatric disorders 8Thyroid disease 29

Notable cases42 year old lady• Past medical history of Marfan syndrome and past aorticvalve replacement as well as depression, emphysema andchronic renal impairment• Presented with dizziness• Discharged 2 days later after investigations with a diagnosis ofpostural hypotension• No family history takenMissed opportunity to assess patient’s and family’s awareness ofsyndrome and risk to close relatives

Notable cases49 year old lady• Presented with shortness of breath and wheeze• Background history of coeliac disease• No family history documented at admission• Consultant review next am – family history in sister of asthmaand coeliac disease deceased from small bowel lymphoma• Diagnosis of upper respiratory tract infection and newdiagnosis of asthma• Consultant input and review of family history helped to clarifydiagnosis of asthma and raised awareness of need for followupfor patient’s coeliac disease

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