426.2 ๐ ๅ่็๏ผ้ซๅธซๅ่ / PGY OSCE๏ผ
426.2.0.1 ๐ Cram Sheet
426.2.0.1.1 ๐ฅ ้ซ yield 20
- Marfan gene: FBN1๏ผfibrillin-1๏ผ, 15q21.1, AD
- Marfan triad: ้ซ็ฆ + ectopia lentis๏ผๅไธ๏ผ+ aortic root dilatation
- Ectopia lentis ๆนๅ: MFS ๅไธใhomocystinuria ๅไธ
- Revised Ghent criteria๏ผ2010๏ผ ๆฏ MFS ่จบๆทๆจๆบ
- MFS Rx: ฮฒ-blocker + losartan (ARB) + aortic root surgery โฅ 5.0 cm
- LDS gene: TGFBR1/2, TGFB2/3, SMAD3
- LDS triad: aortic + branch aneurysm + hypertelorism / bifid uvula + arterial tortuosity
- LDS aortic surgery threshold: โฅ 4.0-4.5 cm๏ผๆฏ MFS ๆฉ๏ผ
- EDS classic gene: COL5A1/A2
- EDS vascular gene: COL3A1๏ผๆ่ดๅฝ๏ผarterial / GI / uterine rupture๏ผ
- EDS hypermobile: ๅบๅ ๆช็ฅ๏ผ2017 clinical criteria
- vEDS Rx: celiprolol + ้ฟๅ ไพตๅ ฅๆ่ก
- OI gene: COL1A1/A2๏ผ80-85%๏ผAD๏ผ
- Sillence type I = ๆ่ผ + blue sclera
- Sillence type II = ่ดๆญป
- OI features: blue sclera + DI + fragility fracture + hearing loss
- OI Rx: bisphosphonate๏ผๅ ็งไธปๅ๏ผ+ PT + ๆดๅฝขๅค็ง
- OI vs ่ๅพ : ้่ + DI + Wormian + COL1A1/A2 genetic test
- PXE gene: ABCC6 โ elastic fiber ้ฃๅ + angioid streaks + GI ๅบ่ก
- Stickler gene: COL2A1 / COL11A1 / COL11A2 โ ้ซๅบฆ่ฟ่ฆ + ่ฆ็ถฒ่ๅ้ข + ๆฉ็ผ OA
426.2.0.1.2 ๐ข ๅฟ ่ๆธๅญ
| ้ ็ฎ | ๆธๅญ |
|---|---|
| MFS ็่ก็ | 1:3000-5000 |
| MFS ๅบๅ | FBN1 95% |
| MFS aortic root surgery | โฅ 5.0 cm |
| LDS aortic root surgery | โฅ 4.0-4.5 cm |
| MFS pregnancy surgery threshold | โฅ 4.0 cm |
| Family Hx dissection surgery | โฅ 4.5 cm |
| MFS Ghent systemic score cutoff | โฅ 7/20 |
| Aortic Z-score MFS cutoff | โฅ 2๏ผโฅ 20 ๆญฒ๏ผ๏ผโฅ 3๏ผ< 20 ๆญฒ๏ผ |
| MFS ectopia lentis ๆฏไพ | ~60% |
| MFS MVP ๆฏไพ | ~25% |
| EDS classic ็่ก็ | 1:20,000 |
| EDS vascular ็่ก็ | 1:50,000-200,000 |
| EDS ็ธฝ็่ก็ | ~1:5000 |
| OI ็่ก็ | 1:10,000-15,000 |
| OI ๅบๅ COL1A1/A2 ๆฏไพ | 80-85% |
| Beighton score generalized cutoff | โฅ 5/9 |
426.2.0.2 โญ ้ซ yield ่กจ
426.2.0.2.1 Marfan ็ณป็ตฑ่กจ็พ
| ็ณป็ตฑ | ่กจ็พ |
|---|---|
| ้ชจ้ชผ | Tall, arachnodactyly, scoliosis, pectus, joint laxity, dural ectasia, high arched palate |
| ็ผ | Ectopia lentis๏ผๅไธ๏ผ, myopia, retinal detachment |
| ๅฟ่ก็ฎก | Aortic root dilatation, dissection, MVP, MR, AR |
| ็ฎ | Striae, recurrent hernia |
| ่บ | Pneumothorax, apical blebs |
426.2.0.2.2 EDS ไธป่ฆๅๅฅ
| Type | ๅบๅ | ้บๅณ | ่ดๅฝ็นๅพต |
|---|---|---|---|
| Classic (cEDS) | COL5A1/A2 | AD | ็ฎ่ + ้็ฏ + ่็ธฎ็ค |
| Vascular (vEDS) | COL3A1 | AD | ๅ่ / ่ ธ / ๅญๅฎฎ็ ด่ฃ |
| Hypermobile (hEDS) | ๆช็ฅ | AD? | ๆ ขๆง็ผ็ + ้็ฏ้ๅ |
| Kyphoscoliotic (kEDS) | PLOD1 / FKBP14 | AR | ๅบ็ kyphoscoliosis + ocular fragility |
| Arthrochalasia (aEDS) | COL1A1/A2 | AD | Congenital hip dislocation + ้็ฏ้ๅ |
| Dermatosparaxis (dEDS) | ADAMTS2 | AR | ็ฎ่ sagging + ๅด้็้ |
| Periodontal (pEDS) | C1R / C1S | AD | ๆฉ็ผ periodontitis |
426.2.0.2.3 OI Sillence ็ถๅ ธ 4 ๅ
| Type | ๅด้ๅบฆ | ้่ | DI | ่ดๆญปๆง | ๆฒป็ |
|---|---|---|---|---|---|
| I | ๆ่ผ | ่ | ยฑ | ๅฆ | bisphos + PT |
| II | ่ดๆญป | ๆทฑ่ | + | ๅจ็ขๆ | ๆฏๆ |
| III | ้ฒ่ก็ธๅฝข | ่ โ ็ฐ | + | ็ซฅๅนด้ซ | bisphos + ๆ่ก |
| IV | ไธญ็ญ | ็ฝ / ็ฐ | ยฑ | ๅฆ | bisphos + PT |
426.2.0.2.4 HTAD๏ผheritable thoracic aortic disease๏ผไธป่ฆ็พ็
| ็พ็ | ๅบๅ | ็นๅพต |
|---|---|---|
| Marfan | FBN1 | Ectopia lentis + aortic root |
| Loeys-Dietz | TGFBR1/2, SMAD3 | Hypertelorism + bifid uvula + branch aneurysm |
| Vascular EDS | COL3A1 | ๅ จ่บซๅ่ / ่ ธ rupture |
| Familial TAA | ACTA2, MYH11, MYLK, PRKG1, LOX | ็ก syndromic features |
426.2.0.3 ๐ฏ ่ชๆๆชขๆธฌ๏ผ25 ้ก๏ผ
- MFS ๅบๅ ๏ผ โ FBN1๏ผfibrillin-1๏ผ
- MFS ectopia lentis ๆนๅ๏ผ โ ๅไธ
- Homocystinuria ectopia lentis ๆนๅ๏ผ โ ๅไธ
- MFS aortic root surgery ็ดๅพ indication๏ผ โ โฅ 5.0 cm๏ผ็กๅฎถๆ dissection๏ผ
- MFS ๅฎถๆ dissection ๅฒ็ surgery indication๏ผ โ โฅ 4.5 cm
- MFS ๆทๅญ surgery threshold๏ผ โ โฅ 4.0 cm
- MFS ็ณป็ตฑ score ๅคๅฐๅๆๆ็พฉ๏ผ โ โฅ 7/20
- MFS arm span/height ๆฏไพ๏ผ โ > 1.05
- MFS upper/lower segment ratio๏ผ โ < 0.85
- LDS ๅบๅ ๏ผ โ TGFBR1/2, TGFB2/3, SMAD3
- LDS aortic surgery threshold๏ผ โ โฅ 4.0-4.5 cm
- LDS ไธ็นๅพต๏ผ โ Aortic / branch aneurysm + hypertelorism / bifid uvula + arterial tortuosity
- Vascular EDS ๅบๅ ๏ผ โ COL3A1
- Vascular EDS ๆ่ดๅฝไฝต็ผ็๏ผ โ ๅ่ใ่ ธ๏ผsigmoid colon๏ผใๅญๅฎฎ่ช็ผ็ ด่ฃ
- Classic EDS ๅบๅ ๏ผ โ COL5A1 / COL5A2
- Hypermobile EDS ๅบๅ ๏ผ โ ๆช็ฅ๏ผclinical criteria๏ผ
- Kyphoscoliotic EDS ๅบๅ ๏ผ โ PLOD1๏ผๆๅธธ่ฆ๏ผor FKBP14
- Beighton score generalized hypermobility cutoff๏ผ โ โฅ 5/9
- OI ๆๅธธ่ฆๅบๅ ๏ผ โ COL1A1 / COL1A2๏ผ80-85%๏ผ
- Sillence type I ็นๅพต๏ผ โ ๆ่ผ + blue sclera + ยฑ DI
- Sillence type II ็นๅพต๏ผ โ ่ดๆญป๏ผๅจ็ขๆ
- OI ๆฒป็ไธปๅ๏ผ โ Bisphosphonate๏ผๅ ็ง๏ผ+ ็ฉ็ๆฒป็ + ๆดๅฝขๅค็ง
- OI vs ่ๅพ ้ๅฅ้้ต 4 ้ ๏ผ โ ้่ + DI + Wormian + COL1A1/A2 sequencing
- PXE ๅบๅ ๏ผ โ ABCC6
- Stickler ๆๅธธ่ฆๅบๅ ๏ผ โ COL2A1
426.2.0.4 ๐ง Key OSCE / ๅ่ Scenario
426.2.0.4.1 Scenario 1๏ผ้ซ็ฆๅญธ็ routine PE ็ผ็พๅฟ้้ณ
- ้้ปๅ่จบ๏ผๅฎถๆๅฒ๏ผ็ๆญปใๅนด่ผไธปๅ่ๅ้ขใ่ฆๅๅ้ก๏ผ
- ้ซๆชข๏ผ่บซ้ซ / ่ๅฑใwrist signใthumb signใpectusใ็ฎ่ striaeใscoliosisใ้ฆฌๅก้ก้ข
- ็ผ็ง๏ผslit-lamp ectopia lentis
- TTE๏ผaortic root Z-scoreใMVP
- Ghent criteria ๅฅ็จ
- ่จๅ๏ผFBN1 sequencingใๅฎถๆ cascade
426.2.0.4.2 Scenario 2๏ผๅ ็งๅ่ฆ้ชจๆ่ฉไผฐ
- ้ๅฅ OI vs ่ๅพ
- ๅฟ ๅ๏ผๅฎถๆ้ชจๆๅฒใ่ฝๅใ็้ฝใ่้่
- X ๅ ๏ผWormian bones, generalized osteopenia, popcorn metaphysis
- DXA Z-score
- ็็ง evaluation
- COL1A1/A2 genetic test
- ๅฟ ่ฆๆ้ๅ ฑ็คพๆฟ๏ผๅฆ้ๅฅไปๆจก็ณ๏ผ
426.2.0.4.3 Scenario 3๏ผๅนด่ผๅฅณๆงๅ่ฆ้็ฏ่ซไฝ + ๆ ขๆง็ผ็
- Beighton score
- ๆ้คๅ ถไป EDS๏ผ็นๅฅ vEDS skin signs๏ผ
- 2017 hEDS criteria
- ๅ ฑ็ ่ฉไผฐ๏ผPOTS๏ผ็ซ็ซๅฟๆ๏ผใIBSใ็ฆๆ ฎ / ๆ้ฌฑ
- ๆฒป็๏ผPTใ่ญทๅ ทใ็ผ็็ฎก็