Table 1.

Baseline characteristics, medications, and clinical eventsa

IDAge atStart of ERT (Gender)Family Group (Mutation)Clinical Manifestations ofFabry Disease; Other ConditionsMonths ACEI/ARB before ERTACEI/ARB and other Medications at Final VisitERT (Mo)Events; Relative to ERT (Mo)
318.8 (F)4 (Q221X)Fabry pain crises, ACR, seizures−7.0Lisin (10); sodium valproate25.2None
833.8 (M)1 (R227X)ACR, ANG, deafness, Ledema, LVH−2.7Lisin 5, Losar (25), HCTZ (25)35.2KBx (11), LoBP (12), AF (40)
434.7 (F)12 (Q283X)ACR, CW, deafness, LVH−5.7Lisin (5)25.1MBx (0), Syncope (10), ICD (12)
547.8 (M)9 (717delAA)ACR, Afib, ANG, ANH, CVA, CW, deafness, LVH, CAD, HLipid−4.1Lisin (10); ASA, Atenol, Clopid, Isosor, Rosuv27.5Pacemaker (−120), CVA (−120), KBx (−4), LoBP (6), Cholecys (26), PTCA (38)
746.1 (M)7 (R227X)ACR, ANG, ANH, Brad, GI, HCM, VTach, HTN, Hlipid,−0.3Lisin (5), Losar (50); ASA, ESA30.3KBx (0), ICD (14)
935.5 (M)10 (P409S)ACR, CW, CAD HTN, HLipid,−14.1Lisin (10), Losar (25); ASA, Atrov, Aten,42.2CABG (−12), KBX (14), HiK (23)
637.9 (M)7 (R227X)ACR, ANG, ANH, Brad, LVH−20.6Enal (20), Losar (50); Coum, ESA43.0CVA (−216), KBx (0), LoBP (27)
1058.3 (F)1 (R227X)ACR, HCM, Afib, CVA, MRegurg, VTach, HLipid, HTN−14.8Lisin (40), Losar (100); Amio, Aten, Atorv, ESA, Levo, ASA37.1ICD (0), KBx (−15)
1233.2 (M)8 (W236X)ACR, ANG, Brad, GI, LVH; HLipid, HTN−2.8Enal (20), Irbes (150); ASA, ESA, Eze10.8KBx (−3), HiK (6), KBx (12), LURDKT (13)
1355.7 (M)13 (G147RR)ACR, ANG, Afib, deafness, Ledema, CHB, HCM−2.7Lisin (5), Losar (50); ASA, Clopid, Fur, Metop, Rosuv21.6Pacemaker (−24), HiK (1), Cholecys (9), LoBP (13)
1129.0 (M)14 (Q221X)ACR, ANG, CW, LVH−5.0Lisin (10), Losar (50); ESA6.0KBx (−5), SBE and AKI (−4), Chol, Pan (−3), Cholecys (−2) ESRD (6)
  • a ACEI, angiotensin-converting enzyme inhibitor; ACR, acroparesthesias; Afib; atrial fibrillation; AKI, acute kidney injury requiring dialysis; Amio, amiodarone; ANG, angiokeratomas; ARB, angiotensin receptor blocker; ASA, aspirin; Aten, atenolol; Atorv, atorvastatin; Brad, bradycardia; CABG, coronary artery bypass graft; CAD, coronary artery disease; CHB, complete heart block; Chol, cholecystitis; Cholecys, cholecystectomy; Clopid, clopidogrel; Coum, Coumadin; CVA, cerebrovascular accident; CW, corneal whirls; Enal, enalapril; ERT, enzyme replacement therapy with agalsidase-β; ESA, erythropoiesis stimulating agent; Eze, ezetimibe, Fur, furosemide; GI, gastrointestinal disturbance; HCM, hypertrophic cardiomyopathy; HCTZ, hydrochlorothiazide; HiK, hyperkalemia; HLipid, hyperlipidemia; HTN, hypertension; ICD, intracardiac defibrillator; Irbes, irbesartan; Isosob, isosorbide; KBx, kidney biopsy; Ledema, lymphedema; Levo, levothyroxine; Lisin, lisinopril; LoBP, hypotension; Losar, losartan; LURDKT, living unrelated donor, kidney transplant; LVH, left ventricular hypertrophy; MBx, myocardial biopsy; Metop, metoprolol; MRegurg, mitral regurgitation; Pan, pancreatitis; PTCA, percutaneous transluminal angioplasty; Rosuv, rosuvastatin; SBE, subacute bacterial endocarditis; VTach, ventricular tachycardia.