Klinisk kemisk diagnos.k Introduk.on Johan Malm professor/överläkare i klinisk kemi inst f transla.onell medicin Lunds universitet Skånes universitetssjukhus Malmö
kvinna, 53 år,.digare frisk, vill bli blodgivare pat visar sig ha ee B- Hb 103g/L och remieeras.ll vårdcentral Vad gör du?
Lab utredning Hb B- EPK inkl. MCV (erytrocytpar.kelkonc.) B- LPK inkl. diff (leukocytpar.kelkonc.) Re.kulocyter B- TPK
Hem Hemoglobin Erytrocyt
Hemoglobin Referensintervall Vuxna Kvinnor: 117-153 g/l Män: 134-170 g/l Barn 0-1 dag: 150-240 g/l 1-6 dagar: 140-220 g/l 6-14 dagar: 130-200 g/l 2-4 veckor: 100-180 g/l 1-3 månader: 100-160 g/l 3-12 månader: 100-140 g/l 1-6 år: 100-150 g/l 6-10 år: 105-150 g/l 10-18 år: 110-160 g/l
Lab utredning Hb B- EPK inkl. MCV (erytrocytpar.kelkonc.) LPK inkl. diff (leukocytpar.kelkonc.) Re.kulocyter Trombocyter
MCV (Mean Corpuscular Volume) Mikrocytär <80fL Normocytär 80-100fL Makrocytär >100fL
Lab utredning Hb B- EPK inkl. MCV LPK inkl. diff Trombocyter Re.kulocyter
Lab utredning Hb B- EPK inkl. MCV LPK inkl. diff Trombocyter Re.kulocyter
Re.kulocyter
Lab utredning Hb B- EPK inkl. MCV LPK inkl. diff Re.kulocyter Trombocyter
Blödning Hb Järnbrist Fe, transferrin, ferri.n Hemolys LD, haptoglobin B12 eller folsyrabrist SR (sänkningsreak.on) CRP (C- reac.ve protein)
Klassificera anemin - patofysiologi Blödningsanemi Minskad produk.on Ökad destruk.on Klassificera anemin - morfologi Normocytär Mikrocytär Makrocytär
Akut Trauma.sk Blödningsanemi Kronisk Occult blödning gastrointes.nal, urinvägar, gynekologisk
Minskad Produk.on Näringsbrist Inflamma.on Neoplas.sk t.ex. blodmalignitet Anemi associerad med kronisk sjukdom Endokrin sjukdom t.ex. njursvikt
Klassificera anemin - patofysiologi Blödningsanemi Minskad produk.on Ökad destruk.on
Hemolys
Klassificera anemin - patofysiologi Blödningsanemi Minskad produk.on Ökad destruk.on Klassificera anemin - morfologi Normocytär Mikrocytär Makrocytär
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
Makrocytär Anemi (MCV>100fL) B12- brist Folsyrabrist Etanol
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
Paus!
Prostatacancer
PSA test DRE Diagnosis is confirmed with a biopsy Transrectal ultrasound (TRUS) Imaging tests can determine if the cancer has spread
Stage I or Stage A Prostate Cancer Stage I cancer is found only in the prostate and usually grows slowly
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
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
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
Bröstcancer
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
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%
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)
Comparing Breast Cancer Risk Estimates in BRCA Mutation Carriers Breast cancer risk (%) 100 80 60 40 BRCA1+ carriers (BCLC) BRCA1+ carriers (Ashkenazi Jews) 20 0 40 50 60 70 80 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
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)
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
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
The Metabolic Syndrome
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 - 2004
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://www.idf.org/webdata/docs/idf_t2d_slides_final_aug06
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
Obesity Trends* Among U.S. Adults BRFSS, 1990, 1999, 2009 (*BMI 30, or about 30 lbs. overweight for 5 4 person) 1990 1999 2009 No Data <10% 10% 14% 15% 19% 20% 24% 25% 29% 30%
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://www.idf.org/webdata/docs/idf_t2d_slides_final_aug06
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