Klinisk kemisk diagnos.k

Transkript

1 Klinisk kemisk diagnos.k Introduk.on Johan Malm professor/överläkare i klinisk kemi inst f transla.onell medicin Lunds universitet Skånes universitetssjukhus Malmö

2 kvinna, 53 år,.digare frisk, vill bli blodgivare pat visar sig ha ee B- Hb 103g/L och remieeras.ll vårdcentral Vad gör du?

3 Lab utredning Hb B- EPK inkl. MCV (erytrocytpar.kelkonc.) B- LPK inkl. diff (leukocytpar.kelkonc.) Re.kulocyter B- TPK

4 Hem Hemoglobin Erytrocyt

5 Hemoglobin Referensintervall Vuxna Kvinnor: g/l Män: g/l Barn 0-1 dag: g/l 1-6 dagar: g/l 6-14 dagar: g/l 2-4 veckor: g/l 1-3 månader: g/l 3-12 månader: g/l 1-6 år: g/l 6-10 år: g/l år: g/l

6 Lab utredning Hb B- EPK inkl. MCV (erytrocytpar.kelkonc.) LPK inkl. diff (leukocytpar.kelkonc.) Re.kulocyter Trombocyter

7 MCV (Mean Corpuscular Volume) Mikrocytär <80fL Normocytär fL Makrocytär >100fL

8 Lab utredning Hb B- EPK inkl. MCV LPK inkl. diff Trombocyter Re.kulocyter

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10 Lab utredning Hb B- EPK inkl. MCV LPK inkl. diff Trombocyter Re.kulocyter

11 Re.kulocyter

12 Lab utredning Hb B- EPK inkl. MCV LPK inkl. diff Re.kulocyter Trombocyter

13 Blödning Hb Järnbrist Fe, transferrin, ferri.n Hemolys LD, haptoglobin B12 eller folsyrabrist SR (sänkningsreak.on) CRP (C- reac.ve protein)

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16 Klassificera anemin - patofysiologi Blödningsanemi Minskad produk.on Ökad destruk.on Klassificera anemin - morfologi Normocytär Mikrocytär Makrocytär

17 Akut Trauma.sk Blödningsanemi Kronisk Occult blödning gastrointes.nal, urinvägar, gynekologisk

18 Minskad Produk.on Näringsbrist Inflamma.on Neoplas.sk t.ex. blodmalignitet Anemi associerad med kronisk sjukdom Endokrin sjukdom t.ex. njursvikt

19 Klassificera anemin - patofysiologi Blödningsanemi Minskad produk.on Ökad destruk.on

20 Hemolys

21 Klassificera anemin - patofysiologi Blödningsanemi Minskad produk.on Ökad destruk.on Klassificera anemin - morfologi Normocytär Mikrocytär Makrocytär

22 Mikrocytär Anemi (MCV<80fL) Järnbrist Diet/Absorp.on Ökat behov Blodförlust Kronisk sjukdom Lågt P- Fe, lågt TIBC, normalt P- Ferri.n Kronisk infek.on, inflamma.on, cancer, etc. Thalassemi

23 Makrocytär Anemi (MCV>100fL) B12- brist Folsyrabrist Etanol

24 Vad hände med pa.enten? kvinna, 53 år,.digare frisk, vill bli blodgivare pat visar sig ha ee B- Hb 103g/L och remieeras.ll vårdcentral

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26 Paus!

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58 Prostatacancer

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60 PSA test DRE Diagnosis is confirmed with a biopsy Transrectal ultrasound (TRUS) Imaging tests can determine if the cancer has spread

61 Stage I or Stage A Prostate Cancer Stage I cancer is found only in the prostate and usually grows slowly

62 Stage II or Stage B Prostate Cancer Stage II cancer has not spread beyond the prostate gland, but involves more than one part of the prostate, and may tend to grow more quickly

63 Stage III or Stage C Prostate Cancer Stage III cancer has spread beyond the outer layer of the prostate into nearby.ssues or to the seminal vesicles, the glands that help produce semen

64 Stage IV or Stage D Prostate Cancer Stage IV cancer has spread to other areas of the body such as the bladder, rectum, bone, liver, lungs, or lymph nodes

65 Bröstcancer

66 Breast cancer primarily effects women but about 1 percent of all cases effect men Breast cancer is the second leading cause of death in women next to lung cancer One out of nine women will develop breast cancer in their life.me One out of twenty in 1960

67 Gene Causes of Hereditary Suscep.bility to Breast Cancer 5 to 10% of breast cancers can be aeributed to inherited factors Contribution to Hereditary Breast Cancer BRCA1 BRCA2 TP53 PTEN Undiscovered genes 20% 40% 10% 30% <1% <1% 30% 70%

68 BRCA1- Associated Cancers: Life.me Risk Breast cancer 50%-85% (often early age at onset, less than 40 years) Second primary breast cancer 40%-60% Ovarian cancer 15%-45% Possible increased risk of other cancers (e.g. prostate, colon)

69 Comparing Breast Cancer Risk Estimates in BRCA Mutation Carriers Breast cancer risk (%) BRCA1+ carriers (BCLC) BRCA1+ carriers (Ashkenazi Jews) Easton DF et al. Am J Hum Genet 56:265, 1995 Struewing JP et al. N Engl J Med 336:1401, 1997 General population Age

70 BRCA2- Associated Cancers: Life.me Risk breast cancer (50%- 85%) ovarian cancer (10%- 20%) male breast cancer (6%) Increased risk of prostate, laryngeal, and pancrea6c cancers (magnitude unknown)

71 HER- 2/neu Growth- s.mula.ng protein Normal cells express a small amount on their plasma membranes On surface of breast cancer cells Sends messages from cell to growth factors outside cell Overabundant on surface of cancer cells in 30% of women with breast cancer

72 Type of biologic therapy Breast cancer treatment drug Monoclonal an.body therapy Blocks HER- 2/neu Effec.ve in metasta.c HER- 2/neu posi.ve breast cancer LiEle effect with HER- 2/ neu nega.ve breast cancer Hercep.n

73 The Metabolic Syndrome

74 Increased waist circumference PLUS any two of the following: 1) Dyslipidemia 2) Systolic blood pressure >130, diastolic blood pressure >85, 3) Hyperglycemia or DM2 Interna.onal Diabetes Federa.on

75 Metabolic Syndrome: Prevalence In Adults* Worldwide Men Women Lima, Peru 21.6% 30% Mexico City 55.6% 64% Spain 27.3% 31.7% Greece 24.5% Hong Kong 7.4% of Chinese men and women USA 39% Germany 57% 46% *as defined by IDF criteria Adapted from hep://

76 What Are The Contribu.ng Causes Of The Metabolic Syndrome? At present, no single pathogenesis has been elicited, and it appears that it can be precipitated by multiple underlying risk factors Insulin Resistance Abdominal Obesity

77 Obesity Trends* Among U.S. Adults BRFSS, 1990, 1999, 2009 (*BMI 30, or about 30 lbs. overweight for 5 4 person) No Data <10% 10% 14% 15% 19% 20% 24% 25% 29% 30%

78 Health Consequences Of Obesity Risk increases with BMI Cancer Respiratory disease Gall- bladder disease Hyper- tension Obesity Kidney failure Type 2 diabetes Stroke Athero- sclerosis Heart failure Adapted from hep://

79 Significance of Metabolic Syndrome Cardiovascular disease People with metabolic syndrome are 2x as likely to die from, and 3x as likely to have a heart aeack or stroke Type 2 diabetes People with metabolic syndrome have a 5x greater risk of developing type 2 diabetes Up to 80% of the 200 million people with diabetes globally will die of cardiovascular disease