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Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases

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Abstract

Objective

To describe the bone imaging features of lipodystrophies in the largest cohort ever published.

Materials and Methods

We retrospectively examined bone imaging data in 24 patients with lipodystrophic syndromes. Twenty-two had genetic lipodystrophy: 12/22 familial partial lipodystrophy (FPLD) and 10/22 congenital generalized lipodystrophy (CGL), 8 with AGPAT2-linked CGL1 and 2 with seipin-linked CGL2. Two patients had acquired generalized lipodystrophy (AGL) in a context of non-specific autoimmune disorders. Skeletal radiographs were available for all patients, with radiographic follow-up for two. Four patients with CGL1 underwent MRI, and two of them also underwent CT.

Results

Patients with FPLD showed non-specific degenerative radiographic abnormalities. Conversely, CGL patients showed three types of specific radiographic alterations: diffuse osteosclerosis (in 7 patients, 6 with CGL1 and 1 with CGL2), well-defined osteolytic lesions sparing the axial skeleton (7 CGL1 and 1 CGL2), and pseudo-osteopoikilosis (4 CGL1). Pseudo-osteopoikilosis was the sole bone abnormality observed in one of the two patients with AGL. Osteolytic lesions showed homogeneous low signal intensity (SI) on T1-weighted and high SI on T2-weighted MR images. Most of them were asymptomatic, although one osteolytic lesion resulted in a spontaneous knee fracture and secondary osteoarthritis in a patient with CGL1. MRI also showed diffuse fatty bone marrow alterations in patients with CGL1, with intermediate T1 and high T2 SI, notably in radiographically normal areas.

Conclusions

The three types of peculiar imaging bone abnormalities observed in generalized lipodystrophic syndromes (diffuse osteosclerosis, lytic lesions and/or pseudo-osteopoikilosis) may help clinicians with an early diagnosis in pauci-symptomatic patients.

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Author information

Authors and Affiliations

  1. Rheumatology Department, Université Paris 06, DHU i2B, AP-HP, Saint-Antoine Hospital, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France

    Stephanie Teboul-Coré, Caroline Rey-Jouvin, Francis Berenbaum & Jérémie Sellam

  2. Radiology Department, AP-HP, Saint-Antoine Hospital, Paris, France

    Anne Miquel

  3. Endocrinology Department, Université Paris 06, DHU i2B, AP-HP, Saint-Antoine Hospital, Paris, France

    Camille Vatier & Corinne Vigouroux

  4. Inserm UMRS_938, Centre de Recherche Saint-Antoine, Paris, France

    Camille Vatier, Jacqueline Capeau, Olivier Lascols, Francis Berenbaum, Corinne Vigouroux & Jérémie Sellam

  5. Sorbonne Universités, UPMC Université Paris 06, UMRS_938, Paris, France

    Camille Vatier, Jacqueline Capeau, Olivier Lascols, Francis Berenbaum, Corinne Vigouroux & Jérémie Sellam

  6. ICAN, Institute of Cardiometabolism and Nutrition, Paris, France

    Camille Vatier, Jacqueline Capeau, Olivier Lascols & Corinne Vigouroux

  7. Department of Diabetes in Children and Adolescents, Hôpital Necker-Enfants Malades, Paris, France

    Jean-Jacques Robert

  8. Rheumatology Department, APHM, Sainte-Marguerite Hospital, Service de Rhumatologie, Aix-Marseille Université, Marseille, France

    Thao Pham

  9. Molecular Biology and Genetics Department, AP-HP, Saint-Antoine Hospital, Paris, France

    Olivier Lascols & Corinne Vigouroux

  10. Radiology Department, AP-HP, Lariboisière Hospital and Université Paris-Diderot, Paris, France

    Jean-Denis Laredo

Authors
  1. Stephanie Teboul-Coré
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  2. Caroline Rey-Jouvin
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  3. Anne Miquel
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  4. Camille Vatier
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  5. Jacqueline Capeau
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  6. Jean-Jacques Robert
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  7. Thao Pham
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  8. Olivier Lascols
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  9. Francis Berenbaum
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  10. Jean-Denis Laredo
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  11. Corinne Vigouroux
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  12. Jérémie Sellam
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Corresponding author

Correspondence to Jérémie Sellam.

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None of the authors have any competing interests in the manuscript.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Teboul-Coré, S., Rey-Jouvin, C., Miquel, A. et al. Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases. Skeletal Radiol 45, 1495–1506 (2016). https://doi.org/10.1007/s00256-016-2457-9

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  • DOI: https://doi.org/10.1007/s00256-016-2457-9

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