Fabry disease is an X-linked metabolic disorder due to a pathogenic mutation of the GLA gene. The accumulation of globotriaosylceramide (Gb3) damages multiple organs, including the heart, kidney and nervous system, especially in classical type Fabry disease. Enzyme replacement therapy (ERT) using recombinant alpha-galactosidase A has been shown to remove Gb3 from organs and to improve the prognosis of Fabry disease. We herein report the case of a 67-year-old classical type Fabry patient who had been treated with ERT for 6 years and who continuously showed a high antibody titer against recombinant alpha-galactosidase A during therapy. A post-mortem examination was performed after sudden death. A histological examination revealed the massive accumulation of Gb3 in various organs, even after long term ERT. In addition to the typical pathological findings as reported in tissue biopsy samples, the serious accumulation of Gb3 in the cardiac conduction system and the endocrine system was detected. Since the start of ERT for this patient might be too late to improve organ damage and prognosis, ERT should be started before the appearance of major organ involvement for the effective elimination of Gb3 and changes in the therapeutic strategy might be considered if the patient shows a high antibody titer against recombinant alpha-galactosidase A.
Objective: An electrocardiogram (ECG) is an important tool for demonstrating cardiac manifestations in various heart diseases. The present study clarified the characteristics of ECG parameters in Japanese Fabry patients under long-term enzyme replacement therapy (ERT).Methods: We analyzed the ECGs of 40 Fabry patients (male, n = 17; female, n = 23) before and after treatment with ERT. To evaluate the atrio-ventricular conduction, the PQ interval, corrected PQ and PQ minus P-wave in lead II (Pend-Q) were calculated. The QRS duration, QTc, Sokolow-Lyon index, and strain pattern were also examined.Results: At the baseline, the shortening of the PQ interval, corrected PQ and Pend-Q was identified in 7.5, 25.0, and 47.5% of cases, respectively. The prolongation of QRS duration and QTc was found in 7.5 and 40.0% of cases, respectively. The strain pattern was mainly identified in female patients, irrespective of left ventricular hypertrophy (LVH). During long-term ERT, the PQ interval, corrected PQ and Pend-Q did not change significantly. The QRS duration was significantly prolonged in both genders, whereas the QTc was significantly prolonged only in male patients. A subgroup analysis revealed that the prolongation of the QRS duration and QTc only occurred in male patients with LVH and only occurred in female patients with the classical type mutation. The prevalence of the strain was significantly increased only in male patients with LVH.Conclusions: These results suggest that the shortening of the Pend-Q is a specific finding in Japanese Fabry patients, and the strain pattern without LVH in female patients can be considered Fabry disease. During long-term ERT, prolongation of the QRS duration and QTc can indicate the progression of myocardial damage in male patients with LVH and in female patients with the classical type mutation.
Objective: The purpose of this study is to investigate the factors that influence the effectiveness of tolvaptan treatment for acute decompensated heart failure. Methods and patients: This retrospective study included 102 patients with acute decompensated heart failure who were considered to require tolvaptan. We investigated whether tolvaptan administration was completed within 7 days or more and divided patients into two groups accordingly (responders, n = 35, non-responders, n = 67). Univariate, multivariate analysis and structural equation modeling were used to investigate the various clinical features involved in the success or failure of tolvaptan administration within 7 days. Among the investigation of various factors, changes in blood urea nitrogen, creatinine, and hemoglobin before and after tolvaptan administration were associated with the completion of tolvaptan administration. In order to proceed with further examination, we examined using a path diagram based on structural equation modeling. Results: It was found that low hemoglobin before treatment and high hemoglobin after treatment are related to the success of the completion of tolvaptan. Other factors were not related to the success of tolvaptan administration. The effectiveness of tolvaptan in pretreatment patients with low hemoglobin is especially important and hemoglobin level will be a valuable marker. Conclusion: This study showed that tolvaptan may be more effective at low hemoglobin in acute decompensated heart failure, which is generally difficult to treat. In that case, active use of tolvaptan is recommended.
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