Epidemiology: General, Genetics, Cardio
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| Celiac disease US prevalence | 1:200 - 1:5000; HLA-DQ2, HLA-DQ8
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| Goodpasture | Usu men 3rd - 4th decade
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| 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
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| Open angle glaucoma | AA; >40 yo; +FH
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| Autosomal dominant pattern | 1:1 M:F; multi generations; M-to-M transmission seen; variable expression (important); late-onset neurodegenerative dz’s
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| Autosomal dominant neuro disorders | Huntington, NF1/NF2, spinocerebellar ataxias, familial Alz, CMT
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| Auto recessive pattern | >1 affected each generation; M:F 1:1; consanguinity; carriers usu asx; inborn errors of metabolism
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| Auto recessive disorders | PKU, Tay-Sachs, MSUD, Friedreich’s, Wilson, homocystinuria, sickle cell
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| X-linked recessive pattern | F-to-M trans; M=affected, F=carrier
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| X-linked rec disorders | Duchenne/Becker MD; Kennedy; adrenoleukodystrophy; Menkes (kinky hair); Lesch-Nyhan; Fragile X; G6PD def
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| X-linked dominant pattern | F-to-F transmission (lethal to males); Rett; Aicardi; Lissencephaly 2
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| Rett disease | 6-18 mos; live to 40s; autism; cardiac & scoliosis
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| Mitochondrial dz pattern (& examples) | multi generations; trans by F only; 1:1 M:F affected; MERRF, MELAS, LHAN, Kearns-Sayre
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| The most common autosomal trisomy: | Trisomy 21 (Down syndrome): 1 in 600 live births
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| The second most common autosomal trisomy: | Trisomy 18 (Edward syndrome): 1 in 6000-8000 live births (1:3 M:F)
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| 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
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| TNR dz pattern (& examples) | can be multiple modes of inheritance; Huntington, Fragile X, myotonic dys; Kennedy; spinocerebellar ataxia; Friedreich
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| APOE genes re: Alz dz risk | E2: protective vs Alz; E4: inc risk of dev Alz
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| Most common genetic form of Parkinson: | PARK8
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| CAD causes ___% of U.S. deaths | 20%
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| CHF deaths per year in U.S. | 300,000
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| lifetime risk for developing A-fib in M/F 40 yo & older | 1 in 4
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| number of U.S. people with CAD | 12,000,000
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| people with Acute MI/yr | 1,500,000
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| number of U.S. CAD/MI deaths/yr | 1,000,000 (single largest killer of US men & women)
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| ___% of U.S. people w/MI per year will die from it | 41%
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| Dyslipidemia / HTN / concurrent | Dys 33%, HTN 24%, concurrent dys/HTN = 15%
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| HTN prevalence | 1 in 3 in U.S.; 66M >20yo (95% are essential HTN)
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| CHF prevalence | 5.1M in U.S.; 650K new dx / yr
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| aortic dissection incidence | M:F 2:1; peak at 60-70 yo; 2k-3k / yr; 80% have HTN
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| Number US deaths/year from CHF | 265,000
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| lifetime risk devt of A-fib | 1 in 4
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| % of people with LV dysfn who are symptomatic | 50%
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| What % of CHF patients have LVH? | 20%
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| HTN epi | 1 in 3 in US = HTN; 66 mil in US 20 yo & older; 95% are essential HTN
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| Coarctation of the Aorta: incidence | Rare (1:10,000) & usually accompanies other abnormalities such as bicuspid aortic valve or Turner Syndrome
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| HTN contributes to what % of M/F AA deaths? | 30% M & 20% F
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| Renal artery stenosis prevalence in HTN pts | less than 2%
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| HTN pts w/ renal artery stenosis: proportions | 75% unilateral stenosis; 25% bilateral
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| HTN prevalence in DM pts | 75% of diabetics have HTN
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| Leading cause of death worldwide | arterial HTN
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| TAA: prevalence | Less common than AAA w/ diff pathogenesis; 60% = aortic root & ascend A; 40% desc A; 10% arch
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| Aortic dissection: incidence | 3/100,00/yr (at least 7,000 cases/yr in the US)
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| Intimal tears resulting in dissection: prevalence: | 65% Ascend A; 20% Desc A; 10% A Arch; 5% Abd A.
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| Aortic Dissection: Epi | Men > women 2:1 (peak incidence 60-70 y.o.); 2,000-3,000 cases/yr
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| AAA Incidence in Men vs Women | 10:1
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| Frequency of heart transplants for CHF | 2500/yr for CHF
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| Prognosis for patients with CHF: | 70% women & 80% of men under 65 will die within 8 years
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| VTE incidence in US | 1M / year (10% = 400K - 650K develop PE -> 10% of those fatal)
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| IBD epidemiology | Caucasians > AA or Asians; M = F; 15-35 y.o.
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| Most common amino acid metabolism disorder | Phenylketonuria (1:10,000 live births)
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| Trisomy 13 (Patau syndrome) | 1 in 12,000 live births (3:2 M:F)
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| SIDS | 1-2/1000 live births (3:2 M:F). Rare <1 month, peaks at 2-4 months, 95% <6 months.
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| SIDS risk factors | Low birth wt. Low SES. Drug addicted mother. Maternal smoking. Prone sleeping position. FH of SIDS.
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| Esophageal cancer | Peak incidence in 5th-7th decades. M:F 3:1
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| 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
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