scholarly journals 749 Clinical profile and outcome of patients with Anderson–Fabry disease followed at a multidisciplinary cardiomyopathy centre

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Federica Verrillo ◽  
Carlo Fumagalli ◽  
Luigi Tassetti ◽  
Chiara Zocchi ◽  
Ilaria Tanini ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Fabry Disease ◽  
Disease Progression ◽  
De Novo ◽  
Left Ventricular ◽  
Age At Diagnosis ◽  
Organ Involvement ◽  
Enzyme Replacement ◽  
Progression Of Kidney Disease

Abstract Aims Anderson–Fabry disease (AFD) is a rare genetic lysosomal storage disorder which often goes unnoticed until the onset of symptoms requires aggressive treatment. Prompt diagnosis remains crucial. Dedicated centres may offer a remarkable opportunity to develop early detection strategies and prompt appropriate multidisciplinary management. To describe the long-term outcomes of patients diagnosed with AFD followed at a national Cardiomyopathy Referral Center according to phenotype (clinical involvement vs. sub-clinical involvement). Methods and results Consecutive patients visited at our Cardiomyopathy Unit from 1989 to 2020 with >1-year follow-up were retrospectively reviewed. Clinical involvement was defined by the presence of one among left ventricular hypertrophy (LVH)>15 mm, presence of conduction blocks or cardiac implantable electronic devices (CIED), atrial fibrillation, kidney disease (glomerular filtration rate <60 ml/min/m2, dialysis or kidney transplant), stroke or transient ischaemic attack (TIA). Disease progression was defined by either de novo CIED implantation, de novo LVH > 15mm or increased IVS, de novo Stroke/TIA, or progression of kidney disease. Overall, 110 were diagnosed with AFD [first via α galactosidase (αGAL) activity and then confirmed via genetic exam], and 86 (78%) with >1-year follow-up were selected. Clinical involvement was present in 60 (70%) patients. Age at diagnosis was similar between patients with clinical and subclinical phenotype (42 ± 17 vs. 39 ± 15, P = 0.277). Patients manifesting clinical involvement compatible with AFD were more frequently men [N = 25 (42%) vs. 4 (15%), P = 0.025] and probands (P = 0.01). Overall, one organ involvement was present in 31 (52%) patients, two organ involvement in 24 (40%) patients, and three organs in 5 (8%). A total of 46 (77%) patients were referred for enzyme replacement therapy (ERT): 52% received agalsidase α, 26% agalsidase β, and 22% migalastat. Among those with a clinical involvement not on ERT, nine (15%) were scheduled for ERT initiation, three (5%) were considered old for ERT, one (1.5%) refused ERT, and one (1.5%) had an allergic reaction to ERT. At 7 (3–12) years follow-up, both study cohorts manifested signs and symptoms of disease progression, although its incidence was higher in patients with clinical involvement [N = 28 (47%, 4.7%/year) vs. N = 4 (15%, 1.5%/year), in clinical vs. subclinical involvement, respectively, P = 0.01]. The main causes for diseases progression were increase in LVH (28%), de novo LVH (13%), progression of kidney disease (7%), and CIED implantation (5%). All patients with disease progression in the subclinical involvement group had been diagnosed with family screening; among these, two were men and one had a late onset phenotype. Three developed LVH > 15mm and one kidney disease. Conclusions Clinical involvement in AFD is frequent irrespective of age at diagnosis, being present in more than 1-in-2 patients at baseline. Prompt referral to dedicated centres is warranted for appropriate care as disease may progress in both patients with and without initial clinical involvement despite optimal medical management.

P0067PREDICTORS OF LONG-TERM OUTCOME IN A SPANISH COHORT OF PATIENTS WITH FABRY DISEASE ON ENZYME REPLACEMENT THERAPY

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Marian Goicoechea ◽  
Francisco Gomez-Preciado ◽  
Silvia Benito ◽  
Joan Torras ◽  
Roser Torra ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Fabry Disease ◽  
Replacement Therapy ◽  
Left Ventricular ◽  
Response To Therapy ◽  
Clinical Event ◽  
Enzyme Replacement ◽  
Clinical Events ◽  
The Impact

Abstract Background and Aims Fabry disease may be treated by enzyme replacement therapy (ERT), but the impact of chronic kidney disease (CKD) on the response to therapy remains unclear. The aim of the present study was to analyse the incidence and predictors of clinical events in Fabry disease patients on ERT. Method Multicentre retrospective observational analysis of patients diagnosed and treated with ERT for Fabry disease. The primary outcome was the first renal, neurological or cardiological events or death during a follow-up of 60 months (24-120). Results In 69 patients (42 males, 27 females, mean age 44.6 ±13.7 years), at the end of follow-up, eGFR and the left ventricular septum thickness remained stable and the urinary albumin: creatinine ratio tended to decrease, but this decrease only approached significance in patients on agalsidase-beta (242 to 128 mg/g (p = 0.05). At the end of follow-up, 21 (30%) patients had suffered an incident clinical event: 6 renal, 2 neurological and 13 cardiological (including 3 deaths). Events were more frequent in patients with baseline eGFR ≤60 ml/min/1.73 m2 (log Rank 12.423, p=0.001), and this remained significant even after excluding incident renal events (log Rank 4.086, p=0.043), being these differences more relevant in females (log Rank 18.514, p<0.001) than males (logRank: 3.442, p=0.064). Lower baseline eGFR was associated with a 3- to 7-fold increase in the risk of clinical events in different Cox models. Conclusion GFR at the initiation of ERT is the main predictor of clinical events, both in males and in females, suggesting that start of ERT prior to the development of CKD is associated with better outcomes. For the first time, we show that initiation of ERT in women before renal function deteriorates has a similar or even larger impact as in Fabry males to prevent clinical events.

scholarly journals Fabry Cardiomyopathy: Current Practice and Future Directions

Cells ◽  
2021 ◽  
Vol 10 (6) ◽  
pp. 1532
Author(s):  
Jeffrey Yim ◽  
Olivia Yau ◽  
Darwin F. Yeung ◽  
Teresa S. M. Tsang
Keyword(s):  
Fabry Disease ◽  
Early Stage ◽  
Point Of Care ◽  
Left Ventricular ◽  
The Body ◽  
Cardiac Biomarkers ◽  
Dried Blood Spot ◽  
Point Of Care Ultrasound ◽  
Enzyme Replacement ◽  
Blood Spot

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the galactosidase A (GLA) gene that result in deficient galactosidase A enzyme and subsequent accumulation of glycosphingolipids throughout the body. The result is a multi-system disorder characterized by cutaneous, corneal, cardiac, renal, and neurological manifestations. Increased left ventricular wall thickness represents the predominant cardiac manifestation of FD. As the disease progresses, patients may develop arrhythmias, advanced conduction abnormalities, and heart failure. Cardiac biomarkers, point-of-care dried blood spot testing, and advanced imaging modalities including echocardiography with strain imaging and magnetic resonance imaging (MRI) with T1 mapping now allow us to detect Fabry cardiomyopathy much more effectively than in the past. While enzyme replacement therapy (ERT) has been the mainstay of treatment, several promising therapies are now in development, making early diagnosis of FD even more crucial. Ongoing initiatives involving artificial intelligence (AI)-empowered interpretation of echocardiographic images, point-of-care dried blood spot testing in the echocardiography laboratory, and widespread dissemination of point-of-care ultrasound devices to community practices to promote screening may lead to more timely diagnosis of FD. Fabry disease should no longer be considered a rare, untreatable disease, but one that can be effectively identified and treated at an early stage before the development of irreversible end-organ damage.

scholarly journals Chronic kidney disease progression among patients with type 2 diabetes identified in US administrative claims: a population cohort study

2020 ◽  
Author(s):  
Csaba P Kovesdy ◽  
Danielle Isaman ◽  
Natalia Petruski-Ivleva ◽  
Linda Fried ◽  
Michael Blankenburg ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Chronic Kidney Disease ◽  
Cohort Study ◽  
Kidney Disease ◽  
Disease Progression ◽  
Administrative Claims ◽  
Short Period ◽  
Ckd Stage

Abstract Background Chronic kidney disease (CKD), one of the most common complications of type 2 diabetes (T2D), is associated with poor health outcomes and high healthcare expenditures. As the CKD population increases, a better understanding of the prevalence and progression of CKD is critical. However, few contemporary studies have explored the progression of CKD relative to its onset in T2D patients using established markers derived from real-world care settings. Methods This retrospective, population-based cohort study assessed CKD progression among adults with T2D and with newly recognized CKD identified from US administrative claims data between 1 January 2008 and 30 September 2018. Included were patients with T2D and laboratory evidence of CKD as indicated by the established estimated glomerular filtration rate (eGFR) and urine albumin:creatinine ratio (UACR) criteria. Disease progression was described as transitions across the eGFR- and UACR-based stages. Results A total of 65 731 and 23 035 patients with T2D contributed to the analysis of eGFR- and UACR-based CKD stage progression, respectively. CKD worsening was observed in approximately 10–17% of patients over a median follow-up of 2 years. Approximately one-third of patients experienced an increase in eGFR values or a decrease in UACR values during follow-up. Conclusions A relatively high proportion of patients were observed with disease progression over a short period of time, highlighting the need for better identification of patients at risk of rapidly progressive CKD. Future studies are needed to determine the clinical characteristics of these patients to inform earlier diagnostic and therapeutic interventions aimed at slowing disease progression.

MO061IS THE PM290I MUTATION RELATED TO ORGAN INVOLVEMENT OF FABRY DISEASE?

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Francisca Silva ◽  
Nicole Pestana ◽  
José Durães ◽  
Nuno Guimarães Rosa ◽  
Gil Silva
Keyword(s):  
Enzyme Replacement Therapy ◽  
Fabry Disease ◽  
Replacement Therapy ◽  
Genetic Variant ◽  
Clinical Manifestations ◽  
Mutant Enzyme ◽  
Enzyme Replacement ◽  
Screening Study ◽  
Gla Gene

Abstract Background and Aims Fabry disease (FD) is an X-linked hereditary disease. It results from mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A and progressive accumulation of undegraded glycosphingolipids in cell lysosomes. Enzyme replacement therapy improved the natural course of this disease, but an early diagnosis is crucial for a successful treatment. Method A screening study for GLA gene mutations was conducted for all patients under dialysis, from a single centre. All the probands with a detectable mutation were analysed individually. Data on the patient's family and personal pathological history were retrospectively collected, by consulting the clinical file. Results 35 years-old female diagnosed with chronic proteinuric kidney disease in the postpartum period. Despite optimal medical treatment the disease progressed, and she started renal replacement therapy with peritoneal dialysis. Five years later she was enrolled in a pilot screening study for FD and the heterozygous mutation c.870G>C (p.Met290Ile; M290I) in exon 6 of the GLA gene was found. The proband didn’t meet the criteria for a definitive FD diagnosis, but she remained under follow-up at our nephrology metabolic diseases consultation, as the mutation was described as pathogenic and associated with a classic FD phenotype. Later that same year, reassessment exams revealed a worsening left ventricle mass index, a new ischemic cerebral lesion and a substantial increase in serum globotriaosylsphingosine (LysoGb3) levels. These clinical changes led to the decision to initiate enzyme replacement therapy. Until now there are only a few descriptions of this genetic variant in the scientific literature. A Portuguese study analysed a total of 11 FD patients and described 2 patients with p.M290I mutation, without detectable Gb3 accumulation. Another study was designed to evaluate the genotype-phenotype relationship in 73 Chinese FD patients. Contrary to other reports, the p.M290I mutation was not associated to the classic FD phenotype. A Swiss investigation with a similar design analysed 69 FD patients during their routine annual examinations. M290I mutant enzyme was found in a 48-year-old heterozygous female with a classic FD phenotype but with a low serum LysoGb3. A Spanish newborn screening identified one male patient with FD and the p.M290I genetic variant but was unable to provide any information about the clinical expression of this mutation, since the diagnosis was made between the third and fifth days of life. The study describing the most patients carrying the M290I mutant enzyme is Brazilian and screened a total of 25,223 dialysis patients. Among 89 FD-positive patients, the p.M290I mutation was present in 22. However, the authors did not provide detailed information about the clinical manifestations or α-Gal A activity and LysoGb3 levels of these patients. Finally, a recent Portuguese screening of 150 hypertrophic cardiomyopathy patients found 25 patients with FD. Of these, one female carried the GLA gene variant p.M290I, with a non-detectable LysoGb3 plasma level. Conclusion We describe a case of FD due to a previously known but still poorly described GLA mutation, which offers strong evidence of its pathogenicity. To our knowledge, this is the first report of p.M290I mutation-associated disease activity evidenced by elevated levels of serum LysoGb3. Despite the absence of classic FD symptoms such as neuropathic pain, cornea verticillata and angiokeratoma, the presence of severe multiple organ evolvement, characterized by renal failure, cardiac disease and ischaemic stroke, strongly suggests a classic phenotype. Consequently, it is our opinion that the presence of a p.M290I GLA mutation should require a strict ongoing patient follow-up, as it may cause clinically significant disease.

scholarly journals Progression of Aortic Calcification in Stage 4–5 Chronic Kidney Disease Patients Transitioning to Dialysis and Transplantation

2021 ◽  
pp. 1-8
Author(s):  
Roosa Lankinen ◽  
Markus Hakamäki ◽  
Tapio Hellman ◽  
Niina S. Koivuviita ◽  
Kaj Metsärinne ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Conservative Treatment ◽  
Left Ventricular ◽  
Waiting List ◽  
Aortic Calcification ◽  
Transplant Recipients ◽  
Treatment Groups ◽  
In The Beginning

<b><i>Background and Aims:</i></b> Abdominal aortic calcification (AAC) is common in chronic kidney disease (CKD) patients and associated with increased mortality. Comparative data on the AAC score progression in CKD patients transitioning from conservative treatment to different modalities of renal replacement therapy (RRT) are lacking and were examined. <b><i>Methods:</i></b> 150 study patients underwent lateral lumbar radiograph to study AAC in the beginning of the study before commencing RRT (AAC1) and at 3 years of follow-up (AAC2). We examined the associations between repeated laboratory tests taken every 3 months, echocardiographic and clinical variables and AAC increment per year (ΔAAC), and the association between ΔAAC and outcomes during follow-up. <b><i>Results:</i></b> At the time of AAC2 measurement, 39 patients were on hemodialysis, 39 on peritoneal dialysis, 39 had a transplant, and 33 were on conservative treatment. Median AAC1 was 4.8 (0.5–9.0) and median AAC2 8.0 (1.5–12.0) (<i>p</i> &#x3c; 0.0001). ΔAAC was similar across the treatment groups (<i>p</i> = 0.19). ΔAAC was independently associated with mean left ventricular mass index (LVMI) (log LVMI: β = 0.97, <i>p</i> = 0.02) and mean phosphorus through follow-up (log phosphorus: β = 1.19, <i>p</i> = 0.02) in the multivariable model. Time to transplantation was associated with ΔAAC in transplant recipients (per month on the waiting list: β = 0.04, <i>p</i> = 0.001). ΔAAC was associated with mortality (HR 1.427, 95% confidence interval 1.044–1.950, <i>p</i> = 0.03). <b><i>Conclusion:</i></b> AAC progresses rapidly in patients with CKD, and ΔAAC is similar across the CKD treatment groups including transplant recipients. The increment rate is associated with mortality and in transplant recipients with the time on the transplant waiting list.

P3805Mortality predictors and outcome in patients after upgrade from implantable cardioverter-defibrillator to cardiac resynchronization therapy in comparison to CRT-D de novo implantation

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
E Jedrzejczyk-Patej ◽  
M Mazurek ◽  
W Kowalska ◽  
M Bugajski ◽  
A Konieczny-Kozielska ◽  
...  
Keyword(s):  
Infective Endocarditis ◽  
Cardiac Resynchronization Therapy ◽  
Implantable Cardioverter Defibrillator ◽  
De Novo ◽  
Left Ventricular ◽  
Cardiac Resynchronization ◽  
Resynchronization Therapy ◽  
Cardioverter Defibrillator ◽  
Mortality Predictors

Abstract Background Over a quarter of all cardiac resynchronization therapy (CRT) implants are upgrades from previous devices, mainly from implantable cardioverter-defibrillator (ICD). In comparison to CRT with defibrillator (CRT-D) de novo implantation, upgrade from ICD to CRT-D carries higher risk of complications. Limited number of studies evaluated predictors of death in patients undergoing upgrade from ICD to CRT-D. Aim To determine mortality predictors and outcome in patients undergoing upgrade from ICD to CRT-D in comparison to subjects with CRT-D de novo implantation. Methods Study population consisted of 595 consecutive patients with CRT-D implanted between 2002 and 2015 in tertiary care university hospital, in a densely inhabited, urban region of Poland (480 subjects [84.3%] with CRT-D de novo implantation; 115 patients [15.7%] upgraded from ICD to CRT-D). Results The median follow-up was 1692 days (range: 457–3067). All-cause mortality in patients upgraded from ICD was significantly higher than in subjects with CRT-D implanted de novo (43.5% vs. 35.5%, P=0.045). On multivariable regression analysis, left ventricular end-systolic diameter (HR 1.07, 95% CI 1.02–1.11, P=0.002), creatinine level at baseline (HR 1.01, 95% CI 1.00–1.02, P=0.01), NYHA IV class at baseline (HR 2.36, 95% CI 1.00–5.53, P=0.049) and cardiac device-related infective endocarditis (CDRIE) during follow up (HR 2.42, 95% CI 1.02–5.75, P=0.046) were identified as independent predictors of higher mortality in patients with CRT-D upgraded from ICD. Conclusions Mortality rate in patients upgraded from ICD is higher in comparison to CRT-D de novo implanted subjects, and reaches almost 45% within 4.5 years. Left ventricular dimensions, creatinine level, high NYHA class at baseline and infective endocarditis during follow up are independent mortality predictors in patients with CRT-D upgraded from ICD.

scholarly journals Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data

2020 ◽  
Vol 28 (12) ◽  
pp. 1662-1668 ◽  
Author(s):  
Eleonora Riccio ◽  
◽  
Mario Zanfardino ◽  
Lucia Ferreri ◽  
Ciro Santoro ◽  
...  
Keyword(s):  
Adverse Effects ◽  
Enzyme Replacement Therapy ◽  
Fabry Disease ◽  
Replacement Therapy ◽  
Treatment Options ◽  
Real Life ◽  
Left Ventricular ◽  
Pharmacological Chaperone ◽  
Enzyme Replacement ◽  
Neurologic Function

AbstractThe treatment options for Fabry disease (FD) are enzyme replacement therapy (ERT) with agalsidase alfa or beta, and the oral pharmacological chaperone migalastat. Since few data are available on the effects of switching from ERT to migalastat, we performed a single-center observational study on seven male Fabry patients (18–66 years) to assess the effects of the switch on renal, cardiac, and neurologic function, health status, pain, lyso-Gb3, α-Gal A activity and adverse effects. Data were retrospectively collected at time of diagnosis of FD (baseline, T0), and after 12 months of ERT (T1), and prospectively after 1 year of therapy with migalastat (T2). No patient died or reported renal, cardiac, or cerebrovascular events during the study period. The predefined measures for cardiac, renal and neurologic function, and FD-related symptoms and questionnaires were stable between baseline and the switch, and remained unchanged with migalastat. However, a significant improvement was observed in left ventricular mass index from baseline to T2 (p = 0.016), with a significative difference between the treatments (p = 0.028), and in median proteinuria from T2 vs T1 (p = 0.048). Moreover, scores of the BPI improved from baseline to T1, and remained stable with migalastat. Plasma lyso-Gb3 levels significantly decreased from baseline to T1 (P = 0.007) and T2 (P = 0.003), while did not significantly differ between the two treatments. α-Gal A activity increased from T0 to T2 (p < 0.0001). The frequency of adverse effects under migalastat and ERT was comparable (28% for both drugs). In conclusion, switching from ERT to migalastat is valid, safe and well tolerated.

P0751METFORMIN, A CLASSIC TREATMENT FOR TYPE 2 DIABETES WITH POSSIBLE RENOPROTECTIVE EFFECTS

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Adriana Acosta Barrios ◽  
Marian Goicoechea ◽  
Eduardo Verde ◽  
Ángela González-Rojas ◽  
Andres Delgado ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Kidney Disease ◽  
Experimental Studies ◽  
Diabetic Patients ◽  
Metformin Treatment ◽  
End Point ◽  
Progression Of Kidney Disease

Abstract Background and Aims Metformin is the antidiabetic of choice in patients with type 2 diabetes mellitus. Experimental studies and clinical observations have shown that metformin could have a beneficial effect on the progression of kidney disease through the activation of cAMP due to its anti-inflammatory, antifibrotic, and anti-oxidative action. The objective was to compare the progression of CKD in diabetic patients with or without metformin as antidiabetic in their treatment and the prevalence of cardiovascular events in both groups. Method Unicentric retrospective observational analysis. Inclusion criteria: outpatients seen in nephrology consultation during the year of 2012 with diabetes mellitus and stage 3 CKD. Renal, cardiovascular outcomes and mortality were analyzed between patients treated with / without metformin. Median follow-up of 76.5 months (41-84). Renal end-point: estimated glomerular filtration rate drop (MDRD-4) by 50% and / or start of dialysis program. Cardiovascular end-point: ischemic heart disease, stroke, arterial revascularization and / or amputation. Cardiovascular or any cause mortality. Results 148 patients (96M, 52W) with a mean age of 75±9 years and an eGFR of 40±9 ml / min / 1.73 m2 were included. In relation to hypoglycemic therapy: 45 received metformin, 61 insulin and 31 DPP4i. 80% received treatment with RAAS blockers. After the follow-up, the progression of the renal disease was greater in patients who did not receive metformin: eGFR fall of -7.0±16 vs -0.15±16 ml / min in those treated with metformin (p = 0.019). 25 patients in the group without metformin suffered a renal event vs. 5 in the metformin group (logRank: 4.186, p = 0.045). In the Cox analysis, metformin treatment decreases the progression of kidney disease in a model adjusted for baseline renal function and treatment with RAASB (HR 0.368, p = 0.043), losing its predictive power in a proteinuria-adjusted model. During the follow-up, 45 patients died (20 metformin, 25 non-metformin) and 45 patients suffered a cardiovascular event (15 metformin, 30 non-metformin), with no differences between the two groups. Conclusion Metformin treatment in patients with stage 3 CKD could slow the progression of CKD, this effect should be demonstrated in randomized studies with larger sample size.

scholarly journals Determinants of cerebral radiological progression in Fabry disease

2020 ◽  
Vol 91 (7) ◽  
pp. 756-763 ◽  
Author(s):  
Simon Körver ◽  
Maria G F Longo ◽  
Marjana R Lima ◽  
Carla E M Hollak ◽  
Mohamed El Sayed ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cardiovascular Risk ◽  
Fabry Disease ◽  
Cardiovascular Risk Factors ◽  
Clinical Characteristics ◽  
White Matter Lesions ◽  
Median Number ◽  
Left Ventricular ◽  
Cardiac Complications ◽  
Enzyme Replacement

Background and aimIt is unclear which patients with Fabry disease (FD) are at risk for progression of white matter lesions (WMLs) and brain infarctions and whether enzyme replacement therapy (ERT) changes this risk. The aim of this study was to determine the effect of ERT and clinical characteristics on progression of WMLs and infarctions on MRI in patients with FD.MethodsMRIs were assessed for WMLs (Fazekas scale), infarctions and basilar artery diameter (BAD). The effect of clinical characteristics (renal and cardiac involvement, cardiovascular risk factors, cardiac complications, BAD) and ERT on WML and infarction progression was evaluated using mixed models.ResultsOne hundred forty-nine patients were included (median age: 39 years, 38% men, 79% classical phenotype). Median follow-up time was 7 years (range: 0–13 years) with a median number of MRIs per patient of 5 (range: 1–14), resulting in a total of 852 scans. Variables independently associated with WML and infarction progression were age, male sex and a classical phenotype. Progression of WMLs and infarctions was not affected by adding ERT to the model, neither for the whole group, nor for early treated patients. Progression was highly variable among patients which could not be explained by other known variables such as hypertension, cholesterol, atrial fibrillation and changes in kidney function, left ventricular mass or BAD.ConclusionProgression of WMLs and cerebral infarctions in FD is mainly related to age, sex and phenotype. Additional effects of established cardiovascular risk factors, organ involvement and treatment with ERT are probably small to negligible.

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