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.
Subject(s)
Acyltransferases/genetics , Bone and Bones/abnormalities , Bone and Bones/diagnostic imaging , Lipodystrophy, Congenital Generalized/diagnostic imaging , Lipodystrophy, Congenital Generalized/genetics , Osteosclerosis/diagnostic imaging , Osteosclerosis/genetics , Adolescent , Adult , Aged , Child , Child, Preschool , Chorionic Gonadotropin , Diagnosis, Differential , Female , Genetic Predisposition to Disease/genetics , Humans , Male , Middle Aged , Syndrome , Young AdultABSTRACT
OBJECTIVE: To determine radiographic hand osteoarthritis (HOA) prevalence in patients with HIV-1 infection in comparison with the general population and to address whether metabolic syndrome (MetS) may increase the risk of HOA during HIV-1 infection. PATIENTS: Patients with HIV-1 infection and MetS (International Diabetes Federation, IDF criteria) aged 45-65â years were matched by age and gender to HIV-1-infected subjects without MetS and underwent hand radiographs. Framingham OA cohort was used as general population cohort. METHODS: Radiographic HOA was defined as Kellgren-Lawrence (KL) score ≥2 on more than one joint. Radiographic severity was assessed by global KL score and number of OA joints. HOA prevalence was compared with that found in the Framingham study, stratified by age and sex. Logistic and linear regression models were used to determine the risk factors of HOA in patients with HIV-1 infection. RESULTS: 301 patients (88% male, mean age 53.4±5.0â years) were included, 152 with MetS and 149 without it. Overall, HOA prevalence was 55.5% and was higher for those with MetS than those without it (64.5% vs 46.3%, p=0.002). When considering men within each age group, HOA frequency was greater in patients with HIV-1 infection than the general population (all ages: 55.8% vs 38.7%; p<0.0001), due to the subgroup with MetS (64.9%; p<0.0001), as well as the subgroup without MetS, although not significant (46.6%; p=0.09). Risk of HOA was increased with MetS (OR 2.23, 95% 95% CI 1.26% to 3.96%) and age (OR 1.18, 95% CI 1.12 to 1.25). HOA severity was greater for patients with MetS than those without. HOA was not associated with previous or current exposure to protease inhibitors or HIV infection-related markers. CONCLUSIONS: HOA frequency is greater in patients with HIV-1 infection, especially those with MetS, than the general population. TRIAL REGISTRATION NUMBER: NCT02353767.
Subject(s)
HIV Infections/complications , HIV-1 , Hand Joints/diagnostic imaging , Metabolic Syndrome/complications , Osteoarthritis/epidemiology , Cross-Sectional Studies , Female , HIV Infections/virology , Hand Joints/virology , Humans , Male , Metabolic Syndrome/virology , Middle Aged , Osteoarthritis/diagnostic imaging , Osteoarthritis/virology , Prevalence , Radiography , Risk FactorsABSTRACT
PURPOSE: The radiologist plays a critical role at all steps of the management of patients with fibrous dysplasia (FD) and McCune-Albright syndrome (MAS). The development of a standardized approach to the management of FD/MAS is crucial given the low incidence and multiple clinical presentations of these conditions. Our aim was to develop recommendations for bone imaging in FD/MAS management. MATERIALS AND METHODS: The establishment of National Reference Centers in France as part of a Health Ministry program for orphan diseases has triggered the development of recommendations for the clinical management of FD/MAS. We used a well-established robust methodological approach involving an extensive literature review by a multidisciplinary working group (20 healthcare professionals) and scoring by a peer-review group (20 healthcare professionals different from the 20 previous ones). There were four phases: a systematic literature review, drafting of initial recommendations, peer-review of this initial draft, and drafting of the final recommendations. RESULTS: Fifty-seven specific recommendations are provided as key points for the diagnosis, prognosis, and follow-up of patients with FD/MAS. Issues of special interest are highlighted in the discussion, and areas in which future research is needed are identified. CONCLUSION: We believe the dissemination of these recommendations within the radiology community may facilitate communication between radiologists and other healthcare providers, thereby substantially improving the management of patients with these rare but potentially disabling conditions.