Background: The current treatment of hereditary hemochromatosis (HH) consists of performing periodic whole blood phlebotomies. Erythrocytapheresis (EA) can remove up to three times more red blood cells per single procedure and could thus have a clinical benefit. A prospective study of 30 consecutive cases of HH were included in a periodic EA program.
Methods And Patients: EA were performed using a discontinuous flow cell separators. The protocol consisted of a bimonthly EA until normalization of the serum ferritin was reached. The aim was to reduce the total erythrocyte volume by 25-35%, eventually, to adjust the amount so that hematocrit would not drop below 0.25.
Results: 530 +/- 101 ml of erythrocytes were removed (median 517, range 116-761 ml). Iron depletion (ferritin < 20 microg/l) was achieved in all patients after a mean 6.9 +/- 7.6 months, median 5 months, range 1-36 months and a mean 14 EA sessions. The procedures were well tolerated and there were no severe side-effects.
Conclusions: We conclude that HH patients treated with EA achieved iron depletion quickly under good conditions of tolerance. The efficacy, speed, tolerability, and more favorable schedule of an EA program facilitate treatment of HH.
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http://dx.doi.org/10.14712/18059694.2015.43 | DOI Listing |
JCI Insight
January 2025
Medicine, Washington University School of Medicine, St. Louis, United States of America.
Hereditary angioedema is an autosomal dominant disorder caused by defects in C1-esterase inhibitor (C1-INH), resulting in poorly controlled activation of the kallikrein-kinin system and bradykinin overproduction. C1-INH is a heavily glycosylated protein in the serine protease inhibitor (SERPIN) family, yet the role of these glycosylation sites remains unclear. To elucidate the functional impact of N-glycosylation in the SERPIN domain of C1-INH, we engineered four sets consisting of 26 variants at or near the N-linked sequon (NXS/T).
View Article and Find Full Text PDFCurr Treat Options Oncol
January 2025
Interdisciplinary Department of Medicine, Section of Sciences and Technologies of Laboratory Medicine, University of Bari "Aldo Moro", Piazza G. Cesare 11, 70124, Bari, Italy.
The vast majority of neuroendocrine 'neoplasms (NENs) are sporadic, although recent evidence has indicated that a subset of these cancers may also originate as a result of genetic germline mutations. To date, 10% of these cancers can be linked to an inherited genetic syndrome. Genetic diagnosis is crucial for patients with a suspected hereditary NEN syndrome, as it recognizes patients carrying germline mutations and allows for personalized clinical follow-up, considering the higher risk of developing other tumours.
View Article and Find Full Text PDFChin Med J (Engl)
January 2025
Department of Orthopedic Surgery, Beijing Jishuitan Hospital Affiliated to Capital Medical University, Beijing 100035, China.
This review aimed to provide a comprehensive analysis of the etiology, epidemiology, pathology, and conventional treatment of heterotopic ossification (HO), especially emerging potential therapies. HO is the process of ectopic bone formation at non-skeletal sites. HO can be subdivided into two major forms, acquired and hereditary, with acquired HO predominating.
View Article and Find Full Text PDFActa Neuropathol Commun
January 2025
Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.
Rippling Muscle Disease (RMD) is a rare skeletal myopathy characterized by abnormal muscular excitability manifesting with wave-like muscle contractions and percussion-induced muscle mounding. Hereditary RMD is associated with caveolin-3 or cavin-1 mutations. Recently, we identified cavin 4 autoantibodies as a biomarker of immune-mediated RMD (iRMD), though the underlying disease-mechanisms remain poorly understood.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Cardiovascular, Renal and Metabolism (CVRM) Evidence, BioPharmaceuticals Medical, AstraZeneca, Gothenburg, Sweden.
Introduction: Significant advances in the treatment of transthyretin (ATTR) amyloidosis has led to an evolving understanding of the epidemiology of this condition. This systematic literature review (SLR) aims to synthesize current evidence on epidemiology and mortality outcomes in ATTR amyloidosis, addressing the need for a comprehensive understanding of its current global impact.
Methods: An SLR of the literature from January 2018 to April 2023 was conducted using the Medline and Embase databases.
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