Stephanie Teboul-Coré1, Caroline Rey-Jouvin1, Anne Miquel2, Camille Vatier3,4,5,6, Jacqueline Capeau4,5,6, Jean-Jacques Robert7, Thao Pham8, Olivier Lascols4,5,6,9, Francis Berenbaum1,4,5, Jean-Denis Laredo10, Corinne Vigouroux3,4,5,6,9, Jérémie Sellam11,12,13. 1. Rheumatology Department, Université Paris 06, DHU i2B, AP-HP, Saint-Antoine Hospital, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France. 2. Radiology Department, AP-HP, Saint-Antoine Hospital, Paris, France. 3. Endocrinology Department, Université Paris 06, DHU i2B, AP-HP, Saint-Antoine Hospital, Paris, France. 4. Inserm UMRS_938, Centre de Recherche Saint-Antoine, Paris, France. 5. Sorbonne Universités, UPMC Université Paris 06, UMRS_938, Paris, France. 6. ICAN, Institute of Cardiometabolism and Nutrition, Paris, France. 7. Department of Diabetes in Children and Adolescents, Hôpital Necker-Enfants Malades, Paris, France. 8. Rheumatology Department, APHM, Sainte-Marguerite Hospital, Service de Rhumatologie, Aix-Marseille Université, Marseille, France. 9. Molecular Biology and Genetics Department, AP-HP, Saint-Antoine Hospital, Paris, France. 10. Radiology Department, AP-HP, Lariboisière Hospital and Université Paris-Diderot, Paris, France. 11. Rheumatology Department, Université Paris 06, DHU i2B, AP-HP, Saint-Antoine Hospital, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France. jeremie.sellam@aphp.fr. 12. Inserm UMRS_938, Centre de Recherche Saint-Antoine, Paris, France. jeremie.sellam@aphp.fr. 13. Sorbonne Universités, UPMC Université Paris 06, UMRS_938, Paris, France. jeremie.sellam@aphp.fr.
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.
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 1CGL2), 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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