This handout is for adhf in fabry cardiomyopathy. Your care team identified this based on: concentric lvh on echo without htn history, especially male age 25-50 or female with family history.
Other reasons your team may use this plan: lvh + proteinuria + neuropathic pain (acroparesthesia) or angiokeratomas → fabry screen; cardiac mri basal inferolateral mid-wall lge + low native t1 (<950 ms at 1.5t) — fabry signature; family history of unexplained cardiomyopathy, renal failure, or stroke (x-linked inheritance pattern).
Take these medications exactly as prescribed. Do not stop or change a dose without talking to your provider.
| Medication | Starting dose | How | When | What it does |
|---|---|---|---|---|
| agalsidase beta | 1 mg/kg IV every 2 weeks (premedicate with antihistamine + acetaminophen for infusion reaction prevention) | IV | every 2 weeks lifelong | FOS + Fabry Registry — slows progression of LV mass + eGFR decline + neuropathic pain; agalsidase beta (Fabrazyme) is US/EU standard |
| agalsidase alfa | 0.2 mg/kg IV every 2 weeks (Replagal — outside US) | IV | every 2 weeks lifelong | FOS — alternative ERT formulation; equivalent clinical efficacy in observational data |
| migalastat | 123 mg PO every other day (fasting state) | PO | every other day lifelong | ATTRACT (Hughes JMG 2017; PMID 27114250) — non-inferior to ERT in patients with amenable mutations (~35-50% of GLA variants); check amenability via FDA-approved in vitro assay before initiation |
| furosemide | 20-40 mg IV (diuretic-naive starting per DOSE PMID 21366472) | IV | q12h with reassessment | Standard ADHF; gentle in Fabry HFpEF restrictive physiology — narrow preload window |
| carvedilol | 3.125 mg PO BID, titrate q2wk to max tolerated | PO | BID | GDMT 4-pillar for residual HFrEF; CAPRICORN PMID 11356436 |
| sacubitril/valsartan | 24/26 mg PO BID, titrate to 97/103 mg BID | PO | BID | GDMT 4-pillar; PARADIGM-HF; PIONEER-HF in-hospital initiation PMID 30403955 |
| spironolactone | 25 mg PO daily, titrate to 50 mg if K + creatinine permit | PO | daily | GDMT 4-pillar; RALES + EMPHASIS-HF |
| empagliflozin | 10 mg PO daily | PO | daily | GDMT 4-pillar; EMPEROR-Reduced + EMPEROR-Preserved + EMPULSE PMID 35347356 |
| warfarin | 5 mg PO daily, INR target 2-3 | PO | daily | Fabry atrial myopathy → low CHA2DS2-VASc threshold for AC; warfarin or DOAC per individual choice (DOACs first-line for nonvalvular AF) |
| apixaban | 5 mg PO BID (or 2.5 mg BID per dose-reduction criteria) | PO | BID | DOAC first-line for nonvalvular AF in Fabry; preferred over warfarin per AHA/ACC/HRS 2023 AF guideline |
Plan: Fabry cardiomyopathy ADHF — disease-modifying therapy phenotype (ESC 2023 cardiomyopathies PMID 37622666 + FOS/Fabry Registry + ATTRACT PMID 27114250)
Contact your care team if any of the following happen:
Call 911 or go to the nearest emergency room right away if you have:
Lifelong ERT or chaperone therapy; the four foundational heart-failure medications for residual HFrEF; ICD per HRS 2017 / ESC 2022 VA if EF <35 + sustained VT or extensive LGE; family screening cascade; multidisciplinary lysosomal storage disease center
Guideline: ESC 2023 cardiomyopathies guideline (PMID 37622666) + Fabry Outcome Survey (FOS) + Fabry Registry + ATTRACT migalastat (PMID 27114250) + ACMG 2018 Fabry genetic testing + HRS 2017 SCD prevention (PMID 28219760)