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Epidemiology 2

Epidemiology: General, Genetics, Cardio

Celiac disease US prevalence 1:200 - 1:5000; HLA-DQ2, HLA-DQ8
Goodpasture Usu men 3rd - 4th decade
Colon cancer risk doubles each decade after 40 yo; M>F; 90% occur after 50; sig higher risk if 1st-degree relative with colon ca
Open angle glaucoma AA; >40 yo; +FH
Autosomal dominant pattern 1:1 M:F; multi generations; M-to-M transmission seen; variable expression (important); late-onset neurodegenerative dz’s
Autosomal dominant neuro disorders Huntington, NF1/NF2, spinocerebellar ataxias, familial Alz, CMT
Auto recessive pattern >1 affected each generation; M:F 1:1; consanguinity; carriers usu asx; inborn errors of metabolism
Auto recessive disorders PKU, Tay-Sachs, MSUD, Friedreich’s, Wilson, homocystinuria, sickle cell
X-linked recessive pattern F-to-M trans; M=affected, F=carrier
X-linked rec disorders Duchenne/Becker MD; Kennedy; adrenoleukodystrophy; Menkes (kinky hair); Lesch-Nyhan; Fragile X; G6PD def
X-linked dominant pattern F-to-F transmission (lethal to males); Rett; Aicardi; Lissencephaly 2
Rett disease 6-18 mos; live to 40s; autism; cardiac & scoliosis
Mitochondrial dz pattern (& examples) multi generations; trans by F only; 1:1 M:F affected; MERRF, MELAS, LHAN, Kearns-Sayre
The most common autosomal trisomy: Trisomy 21 (Down syndrome): 1 in 600 live births
The second most common autosomal trisomy: Trisomy 18 (Edward syndrome): 1 in 6000-8000 live births (1:3 M:F)
MELAS d/t pt mutation of transfer DNA from leucine; <40 yo; lactic acidosis; HA, stroke, seizure, short; progressive dementia; Dx high serum pyruvate & lactate, stroke lesions; no tx
TNR dz pattern (& examples) can be multiple modes of inheritance; Huntington, Fragile X, myotonic dys; Kennedy; spinocerebellar ataxia; Friedreich
APOE genes re: Alz dz risk E2: protective vs Alz; E4: inc risk of dev Alz
Most common genetic form of Parkinson: PARK8
CAD causes ___% of U.S. deaths 20%
CHF deaths per year in U.S. 300,000
lifetime risk for developing A-fib in M/F 40 yo & older 1 in 4
number of U.S. people with CAD 12,000,000
people with Acute MI/yr 1,500,000
number of U.S. CAD/MI deaths/yr 1,000,000 (single largest killer of US men & women)
___% of U.S. people w/MI per year will die from it 41%
Dyslipidemia / HTN / concurrent Dys 33%, HTN 24%, concurrent dys/HTN = 15%
HTN prevalence 1 in 3 in U.S.; 66M >20yo (95% are essential HTN)
CHF prevalence 5.1M in U.S.; 650K new dx / yr
aortic dissection incidence M:F 2:1; peak at 60-70 yo; 2k-3k / yr; 80% have HTN
Number US deaths/year from CHF 265,000
lifetime risk devt of A-fib 1 in 4
% of people with LV dysfn who are symptomatic 50%
What % of CHF patients have LVH? 20%
HTN epi 1 in 3 in US = HTN; 66 mil in US 20 yo & older; 95% are essential HTN
Coarctation of the Aorta: incidence Rare (1:10,000) & usually accompanies other abnormalities such as bicuspid aortic valve or Turner Syndrome
HTN contributes to what % of M/F AA deaths? 30% M & 20% F
Renal artery stenosis prevalence in HTN pts less than 2%
HTN pts w/ renal artery stenosis: proportions 75% unilateral stenosis; 25% bilateral
HTN prevalence in DM pts 75% of diabetics have HTN
Leading cause of death worldwide arterial HTN
TAA: prevalence Less common than AAA w/ diff pathogenesis; 60% = aortic root & ascend A; 40% desc A; 10% arch
Aortic dissection: incidence 3/100,00/yr (at least 7,000 cases/yr in the US)
Intimal tears resulting in dissection: prevalence: 65% Ascend A; 20% Desc A; 10% A Arch; 5% Abd A.
Aortic Dissection: Epi Men > women 2:1 (peak incidence 60-70 y.o.); 2,000-3,000 cases/yr
AAA Incidence in Men vs Women 10:1
Frequency of heart transplants for CHF 2500/yr for CHF
Prognosis for patients with CHF: 70% women & 80% of men under 65 will die within 8 years
VTE incidence in US 1M / year (10% = 400K - 650K develop PE -> 10% of those fatal)
IBD epidemiology Caucasians > AA or Asians; M = F; 15-35 y.o.
Most common amino acid metabolism disorder Phenylketonuria (1:10,000 live births)
Trisomy 13 (Patau syndrome) 1 in 12,000 live births (3:2 M:F)
SIDS 1-2/1000 live births (3:2 M:F). Rare <1 month, peaks at 2-4 months, 95% <6 months.
SIDS risk factors Low birth wt. Low SES. Drug addicted mother. Maternal smoking. Prone sleeping position. FH of SIDS.
Esophageal cancer Peak incidence in 5th-7th decades. M:F 3:1
Pancreatic cancer 34,000 deaths / year in US. 2nd most common GI ca. 4th most common cause of ca death. Incidence increased 3-fold in 40 yrs. Increases with age, peaks 5th-6th decades
Created by: Abarnard