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Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa.

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Title: Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa.
Authors: Velmishi, Virtut1 (AUTHOR), Troja, Erjon2 (AUTHOR), Tanka, Marjeta3 (AUTHOR), Bali, Donjeta3 (AUTHOR), Dervishi, Ermira1 (AUTHOR), Tako, Afërdita3 (AUTHOR), Kollcaku, Laurant3 (AUTHOR), Cullufi, Paskal1 (AUTHOR)
Source: Journal of Osteoporosis. 12/4/2023, p1-8. 8p.
Subject Terms: *LUMBAR vertebrae, *GAUCHER'S disease, *LYSOSOMAL storage diseases, *BONE density, *GLYCOGEN storage disease type II, *BONE fractures, *GENETIC disorders, *DUAL-energy X-ray absorptiometry
Abstract: Gaucher disease is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunctions in multiple organs. Bone involvement is one of the most prevalent aspects of Gaucher disease. Pain, disability, and reduced quality of life remain the most frequent characteristics of bone involvement in Gaucher patients. Patients and Method. In this study, we will take into consideration data from 24 patients diagnosed with type 1 Gaucher disease. We followed them closely for six years in progress. At baseline, all patients started therapy with taliglucerase alfa at a mean dosage of 45 UI/kg; later, during the study, two of them switched their cure toward velaglucerase alfa. Before baseline evaluations, 12 patients had been treated with imiglucerase at variable duration times. At baseline, we performed an X-ray of long bones and the spine, and each year, different standard assessments were performed, such as bone pain, MRI of the vertebral spine and pelvis, and DEXA for bone density. Four patients left the study for various reasons, two of them at baseline and two others during year 3 (FU3). Results. At baseline, we had 8 children and 16 adults. The average age was 28.7 ± 16.5 SD years. The most frequent skeletal manifestations in our patients were reduction of tibial femoral space (40%), osteonecrosis (36%), and body vertebral reduction (32%). At baseline, 15 patients presented with bone pain to different degrees. Over the years, bone pain in our patients had a gradual improvement. The most dramatic bone pain improvement was seen in a patient who presented bone crises. Another impressive finding was a significant BMD improvement during six years of treatment. Our study showed a significant improvement in BMD comparing FU5 and baseline values (p = 0.0007). Especially children demonstrated a significant improvement in BMD (p = 0.00061) compared to adults (p = 0.3673). Mean BMD change was more indicative in switched patients (p = 0.0142) compared to naïve patients (p = 0.147). Conclusions. Skeletal manifestations are very different in Gaucher type 1 patients. In our study, as a result of long-term evaluations, it was noticed that the most frequent skeletal manifestation was a reduction of tibiofemoral space. Bone pain has gradually improved in all patients. Also, BMD values have been enhanced over six years of treatment, especially in children. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Osteoporosis is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Label: Title
  Group: Ti
  Data: Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa.
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  Data: <searchLink fieldCode="AR" term="%22Velmishi%2C+Virtut%22">Velmishi, Virtut</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Troja%2C+Erjon%22">Troja, Erjon</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tanka%2C+Marjeta%22">Tanka, Marjeta</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bali%2C+Donjeta%22">Bali, Donjeta</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dervishi%2C+Ermira%22">Dervishi, Ermira</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tako%2C+Afërdita%22">Tako, Afërdita</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kollcaku%2C+Laurant%22">Kollcaku, Laurant</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cullufi%2C+Paskal%22">Cullufi, Paskal</searchLink><relatesTo>1</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Journal+of+Osteoporosis%22">Journal of Osteoporosis</searchLink>. 12/4/2023, p1-8. 8p.
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  Data: *<searchLink fieldCode="DE" term="%22LUMBAR+vertebrae%22">LUMBAR vertebrae</searchLink><br />*<searchLink fieldCode="DE" term="%22GAUCHER'S+disease%22">GAUCHER'S disease</searchLink><br />*<searchLink fieldCode="DE" term="%22LYSOSOMAL+storage+diseases%22">LYSOSOMAL storage diseases</searchLink><br />*<searchLink fieldCode="DE" term="%22BONE+density%22">BONE density</searchLink><br />*<searchLink fieldCode="DE" term="%22GLYCOGEN+storage+disease+type+II%22">GLYCOGEN storage disease type II</searchLink><br />*<searchLink fieldCode="DE" term="%22BONE+fractures%22">BONE fractures</searchLink><br />*<searchLink fieldCode="DE" term="%22GENETIC+disorders%22">GENETIC disorders</searchLink><br />*<searchLink fieldCode="DE" term="%22DUAL-energy+X-ray+absorptiometry%22">DUAL-energy X-ray absorptiometry</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Gaucher disease is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunctions in multiple organs. Bone involvement is one of the most prevalent aspects of Gaucher disease. Pain, disability, and reduced quality of life remain the most frequent characteristics of bone involvement in Gaucher patients. Patients and Method. In this study, we will take into consideration data from 24 patients diagnosed with type 1 Gaucher disease. We followed them closely for six years in progress. At baseline, all patients started therapy with taliglucerase alfa at a mean dosage of 45 UI/kg; later, during the study, two of them switched their cure toward velaglucerase alfa. Before baseline evaluations, 12 patients had been treated with imiglucerase at variable duration times. At baseline, we performed an X-ray of long bones and the spine, and each year, different standard assessments were performed, such as bone pain, MRI of the vertebral spine and pelvis, and DEXA for bone density. Four patients left the study for various reasons, two of them at baseline and two others during year 3 (FU3). Results. At baseline, we had 8 children and 16 adults. The average age was 28.7 ± 16.5 SD years. The most frequent skeletal manifestations in our patients were reduction of tibial femoral space (40%), osteonecrosis (36%), and body vertebral reduction (32%). At baseline, 15 patients presented with bone pain to different degrees. Over the years, bone pain in our patients had a gradual improvement. The most dramatic bone pain improvement was seen in a patient who presented bone crises. Another impressive finding was a significant BMD improvement during six years of treatment. Our study showed a significant improvement in BMD comparing FU5 and baseline values (p = 0.0007). Especially children demonstrated a significant improvement in BMD (p = 0.00061) compared to adults (p = 0.3673). Mean BMD change was more indicative in switched patients (p = 0.0142) compared to naïve patients (p = 0.147). Conclusions. Skeletal manifestations are very different in Gaucher type 1 patients. In our study, as a result of long-term evaluations, it was noticed that the most frequent skeletal manifestation was a reduction of tibiofemoral space. Bone pain has gradually improved in all patients. Also, BMD values have been enhanced over six years of treatment, especially in children. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Journal of Osteoporosis is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1155/2023/3254533
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
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        PageCount: 8
        StartPage: 1
    Subjects:
      – SubjectFull: LUMBAR vertebrae
        Type: general
      – SubjectFull: GAUCHER'S disease
        Type: general
      – SubjectFull: LYSOSOMAL storage diseases
        Type: general
      – SubjectFull: BONE density
        Type: general
      – SubjectFull: GLYCOGEN storage disease type II
        Type: general
      – SubjectFull: BONE fractures
        Type: general
      – SubjectFull: GENETIC disorders
        Type: general
      – SubjectFull: DUAL-energy X-ray absorptiometry
        Type: general
    Titles:
      – TitleFull: Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa.
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            – D: 04
              M: 12
              Text: 12/4/2023
              Type: published
              Y: 2023
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