Lynch/BRCA/Menopause

Question 1

Genetic risk of Lynch & Mx

Scenario 1 - FHx of Lynch want RRBSO

Answer 1

• risk EOC/EAC/CRC w Lynch =10/40/50
• hyster+BSO reduce risk EOC/EAC 95%
• surveillance - USS/EB = not proven
• risk of hyster - fertility
• risk of BSO - early meno risks
• confirm FHx
• refer Familial cancer
• genetic counselling + testing
• MDI - gynae/genetics/meno/colorectal
• further ix based on genetic testing
  +/- Pelvic USS +/- TMs+/-colonoscopy
• provide written information
• link up with support group
• follow-up

Question 2

Genetic risk for BRCA & Mx

Scenario 1 - 25yo FHx of BCA/EOC, never tested, want fertility

Scenario 2 - postmeno, hx of BRCA+ BCA on bkg of FHx of BRCA+

Answer 2

• risks of EOC/BCA w BRCA
• BRCA1 40/60 (EOC/BCA)
• BRCA2 20/40 (EOC/BCA)
• unlikely under 40
• RRBSO/Mastectomy
• surveil - not proven (USS/CA125/MMG)
• refer Familial Cancer clinic
• genetic counselling/testing
• MDI - gyn/endo/menopause
• aim fam complete @ 35 then RRBSO
• HRT till menopause age
• provide written info
• link up with support group
• follow-up

Question 3

Counsel about oophorectomy at hysterectomy (for benign disease)

Answer 3

• risk of EOC <2% gen pop
• most EOC are sporadic
• risk of EOC higher if FHx+mutations
• risk of BSO pre-meno - cardiac/osteo
• alt to reduce EOC risk
  1. salpingectomy, 1/2 risk of HGSOC
  2. long term COCP >15yr, 1/2 risk
  3. pregnancy

Question 4

Mx of postsurgical menopause including counselling re: HRT

Scenario 1 - 48yo hysterectomy + BSO for hyperplasia

Scenario 2 - 42yo hysterectomy + BSO for HMB 2nd to multifibroid uterus (unplanned oophorectomy due to unexpected adnexal mass)

Scenario 3 - 32yo p/w POF + familial cancer dx, consider hysterectomy + BSO

Scenario 4 - 53yo, breast ca on tamoxifen, severe E2 deficiency sx

Scenario 5 - surgical menopause from RR surgery

Answer 4

• risk of meno - CVD/Osteo/VMS/GSM…
• risk of prolonged HRT - VTE/CVA/BCA
• MDI - gyn/endo..
• Optimize co-morbidity
• Screen for CVD RFs - BSL/Lipids/HTN
• Screens - CST/MMG/FOBT/DEXA
• Osteo - vitD/Ca/wt b exer/HRT/Bispho
• LS mod - smoke/etoh
• F/U in 3mo then annually

HRT specific issues
- need P4 if uterus
- don’t start after 60
- shortest duration possible
- no more than 10yr
- avoid with hormone sensitive ca
- effective contraception

Alternatives to HRT
- non-pharm - CBT/Hypnosis
- non-hormone - SSRI/Gabapentin
- environmental - clothing/layers/fans

T-score <=2.5 - osteoporosis

Question 5

DDx/Definition of 2ndary ameno

Scenario 1 - 28yo, G2P1, amenorrhea for 2 years, desiring fertiliity

Scenario 2 - 32yo, POI (comm)

Answer 5

DDx (90% no cause found)
- pregnancy
- contraception
- iatrogenic - chemo/rt
- gene - Turner’s/FragX
- hypotha - exerci/stres
- pit - mass/chronic dis
- adrenal - autoimmune/CAH
- ovarian - PCOS/POI
- ut - asher/stenosis

POI = loss of ovarian function b4 40
4mo of ameno or 6mo oligo

Biochem POI dx
- FSH (>40) E2 (<50)
- 2 reading 4/52 apart
- TSH/Prl = N

Question 6

Ix of 2ndary ameno

Answer 6

Initial Ix (confirm dx & exclude ddx)
- rpt FSH/E2 4/52 from last
- TSH/Prl/bHCG
- FAI/F-T/SBHG (PCOS)
- Pelvic USS +/- MRB
- +/- Karyotype (Turner’s)
- +/- FMR1 premutation
- +/- adrenal autoabs/ovarian autoabs
- +/- DEXA as POI risk for osteo

Baseline risks
- BMD/Lipid profile/HbA1c

Question 7

Mx of POI

Answer 7

• risk to health - CVD/Osteo…
• risk to fert - spont10%, donor O+IVF
• risk to preg - if Turner’s
• ref tert - MDI - gyn/endo/CREI
• sequential HRT till meno age
  menopause mx as above