283.3 🏥 內科專科考前版

283.3.1 Mechanistic Deep Dive

283.3.1.1 BMPR2 Pathway

  • Most common heritable PAH (70% heritable)
  • TGF-β superfamily receptor
  • Loss-of-function → unopposed proliferation
  • Reduced apoptosis of smooth muscle
  • Sotatercept restores BMPR-II / activin balance

283.3.1.2 Vascular Remodeling

  • Endothelial dysfunction
  • Smooth muscle hypertrophy + proliferation
  • Adventitial fibrosis
  • In situ thrombosis
  • Inflammation (macrophages, T cells)
  • Plexiform lesions

283.3.1.3 Genetics

  • BMPR2 (most common)
  • ALK1, ENG (HHT-associated)
  • SMAD9
  • CAV1
  • KCNK3 (potassium channel)
  • TBX4 (Pulmonary disease + skeletal defect)
  • Genetic counseling for familial cases

283.3.2 Recent Trials & Updates

283.3.2.1 STELLAR (2023) — Sotatercept

  • N = 323 PAH on background therapy
  • Sotatercept (activin ligand trap) vs placebo
  • ↑ 6MWT 40 m, ↓ clinical worsening events
  • FDA approved 2024 for PAH (Group 1)
  • Novel mechanism — game changer

283.3.2.2 HYPERION (2024)

  • Sotatercept in earlier-stage PAH
  • Ongoing

283.3.2.3 INCREASE (2021)

  • Inhaled treprostinil for ILD-PH (Group 3 with severe PH)
  • ↑ 6MWT 31 m
  • Class IIa for ILD-PH (severe)

283.3.2.4 MERIT (2017)

  • Macitentan for CTEPH
  • Improved PVR, 6MWT
  • Class IIa for inoperable / persistent CTEPH

283.3.2.5 RAPID + RACE (CTEPH BPA)

  • BPA improves PVR, 6MWT, hemodynamics
  • 10+ year experience from Japan, Europe

283.3.2.6 Anticoagulation Debate

  • COMPERA registry: warfarin associated with worse survival in IPAH (paradoxical)
  • 2022 ESC: no routine anticoagulation in IPAH/HPAH
  • CTEPH still lifelong AC

283.3.2.7 CCB in Vasoreactive Responders

  • Long-term survival ~ 70% at 5 years
  • Use high-dose (amlodipine 20-30 mg, diltiazem 540-960 mg, nifedipine 240 mg)
  • Only ~ 10% of IPAH

283.3.3 High-Yield Specialist Points

283.3.3.1 Risk Stratification (REVEAL 2.0)

  • Composite score including age, etiology, gender, hemodynamics, functional class, 6MWT, BNP, RAP, CI, RV function
  • Stratifies to low (≀ 7), intermediate (8-12), high (≥ 13)
  • Predicts 1-year mortality

283.3.3.2 ESC/ERS 4-Strata Risk

  • Low: WHO I-II, 6MWT > 440, BNP < 50, mRAP < 8, CI > 2.5
  • Intermediate-low / intermediate-high / high based on combinations
  • Treatment goal: achieve low-risk status

283.3.3.3 Pulmonary Rehab in PH

  • 2022 ESC Class I
  • Improves exercise capacity, QOL
  • Multidisciplinary, supervised

283.3.3.4 Lung Transplant Listing

  • Refractory PAH despite optimal therapy
  • Bilateral lung > single-lung (PVR ↓ better)
  • Heart-lung for Eisenmenger or shunt
  • LAS scoring

283.3.3.5 Atrial Septostomy

  • Palliative for severe PAH with RV failure
  • Creates R→L shunt to decompress RV
  • Bridging procedure

283.3.3.6 CTEPH Workup + Referral

  • V/Q scan most sensitive (90%+)
  • Pulmonary angiography for surgical planning
  • Refer to specialized PEA center
  • Multidisciplinary CTEPH team

283.3.3.7 Scleroderma PAH

  • Common cause (10-15% of scleroderma)
  • DETECT screening algorithm
  • Annual screening of asymptomatic scleroderma
  • Worse prognosis than IPAH
  • Multidisciplinary CTD + PAH team

283.3.3.8 CHD-PAH

  • Pre-tricuspid (ASD, partial AVSD) vs post-tricuspid (VSD, PDA)
  • Eisenmenger syndrome: reversed shunt
  • Bosentan landmark BREATHE-5
  • Specific risk-benefit balance

283.3.3.9 Drug Interactions

  • Sildenafil + nitrates: severe hypotension (CONTRAINDICATED)
  • Riociguat + PDE5i: severe hypotension (CONTRAINDICATED)
  • Bosentan: CYP3A4 induces → ↓ contraceptive efficacy
  • Ambrisentan/macitentan: less LFT issues
  • Selexipag: CYP2C8

283.3.3.10 Sotatercept Side Effects

  • Telangiectasia, epistaxis
  • Hgb / hct ↑ (monitor)
  • Subcutaneous q3-4 weeks
  • High cost

283.3.4 Pearls

  • mPAP > 20 (revised 2018 from > 25)
  • 5 WHO groups; treatment varies dramatically by group
  • V/Q scan ALWAYS in PH workup — don’t miss CTEPH (curable!)
  • PAH triple pathway: ERA + PDE5i/riociguat + prostanoid
  • Initial combo > sequential (AMBITION)
  • Sotatercept 2024 FDA — novel mechanism (activin)
  • CTEPH cure = PEA at experienced center
  • Vasoreactivity testing in IPAH only — 10% positive → CCB
  • Pregnancy contraindicated in PAH (25-30% maternal mortality)