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    Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy
    (W B Saunders Co-Elsevier Inc, 2017) Akinci, Baris; Onay, Huseyin; Demir, Tevfik; Savas-Erdeve, Senay; Gen, Ramazan; Simsir, Ilgin Yildirim; Keskin, Fatma Ela; Erturk, Mehmet Sercan; Uzum, Ayse Kubat; Yaylali, Guzin Fidan; Ozdemir, Nilufer Kutbay; Atik, Tahir; Ozen, Samim; Yurekli, Banu Sarer; Apaydin, Tugce; Altay, Canan; Akinci, Gulcin; Demir, Leyla; Comlekci, Abdurrahman; Secil, Mustafa; Oral, Elif Arioglu
    Objective. Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by partial lack of subcutaneous fat. Methods. This multicenter prospective observational study included data from 56 subjects with FPLD (18 independent Turkish families). Thirty healthy controls were enrolled for comparison. Results. Pathogenic variants of the LMNA gene were determined in nine families. Of those, typical exon 8 codon 482 pathogenic variants were identified in four families. Analysis of the LMNA gene also revealed exon 1 codon 47, exon 5 codon 306, exon 6 codon 349, exon 9 codon 528, and exon 11 codon 582 pathogenic variants. Analysis of the PPARG gene revealed exon 3 p.Y151C pathogenic variant in two families and exon 7 p.H477L pathogenic variant in one family. A non-pathogenic exon 5 p.R215Qvariant of the LMNB2 gene was detected in another family. Five other families harbored no mutation in any of the genes sequenced. MRI studies showed slightly different fat distribution patterns among subjects with different point mutations, though it was strikingly different in subjects with LMNA p.R349W pathogenic variant. Subjects with pathogenic variants of the PPARG gene were associated with less prominent fat loss and relatively higher levels of leptin compared to those with pathogenic variants in the LMNA gene. Various metabolic abnormalities associated with insulin resistance were detected in all subjects. End-organ complications were observed. Conclusion. We have identified various pathogenic variants scattered throughout the LMNA and PPARG genes in Turkish patients with FPLD. Phenotypic heterogeneity is remarkable in patients with LMNA pathogenic variants related to the site of missense mutations. FPLD, caused by pathogenic variants either in LMNA or PPARG is associated with metabolic abnormalities associated with insulin resistance that lead to increased morbidity. (C) 2017 Elsevier Inc. All rights reserved.
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    Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study
    (Pergamon-Elsevier Science Ltd, 2017) Akinci, Gulcin; Topaloglu, Haluk; Demir, Tevfik; Danyeli, Ayca Ersen; Talim, Beril; Keskin, Fatma Ela; Kadioglu, Pinar; Talip, Enez; Altay, Canan; Yaylali, Guzin Fidan; Bilen, Habib; Nur, Banu; Demir, Leyla; Onay, Huseyin; Akinci, Baris
    Lipodystrophy is a heterogeneous group of disorders characterized by loss of adipose tissue. Here, we report on clinical spectra of neuromuscular manifestations of Turkish patients with lipodystrophy. Seventy-four patients with lipodystrophy and 20 healthy controls were included. Peripheral sensorimotor neuropathy was a con-non finding (67.4%) in lipodystrophic patients with diabetes. Neuropathic foot ulcers were observed in 4 patients. Drop foot developed in 1 patient with congenital generalized lipodystrophy type 1. Muscle symptoms and hypertrophy were consistent findings in congenital generalized lipodystrophy (21/21) and familial partial lipodystrophy (25/34); on the other hand, overt myopathy with elevated creatine kinase activity was a distinctive characteristic of congenital generalized lipodystrophy type 4. Muscle biopsies revealed myopathic changes at different levels. Accumulation of triglycerides was observed which contributes to insulin resistance. All patients with congenital generalized lipodystrophy suffered from tight Achilles tendons at various levels. Scoliosis was observed in congenital generalized lipodystrophy type 4 (2/2) and familial partial lipodystrophy type 2 (2/17). Atlantoaxial instability was unique to congenital generalized lipodystrophy type 4 (2/2). Bone cysts were detected in congenital generalized lipodystrophy type 1 (7/10) and congenital generalized lipodystrophy type 2 (2/8). Our study suggests that lipodystrophies are associated with a wide spectrum of neuromuscular abnormalities. (C) 2017 Elsevier B.V. All rights reserved.
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    Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy
    (Aves, 2017) Altay, Canan; Secil, Mustafa; Demir, Tevfik; Atik, Tahir; Akinci, Gulcin; Kutbay, Nilufer Ozdemir; Temeloglu, Ela Keskin; Simsir, Ilgin Yildirim; Ozisik, Secil; Demir, Leyla; Eren, Erdal; Tuna, Emine Burcin; Aytac, Hasibe; Onay, Huseyin; Akinci, Baris
    PURPOSE We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy. METHODS A total of 32 patients 12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included. RESULTS Despite generalized loss of metabolically active adipose tissue, patients with CGL1 caused by AGPAT2 mutations had a significant amount of residual adipose tissue in the scalp, earlobes, retro-orbital region, and palms and soles. No residual adipose tissue was noted particularly in the head and neck, palms and soles in CGL2 caused by BSCL2 mutations. CGL4 caused by mutations in the PTRF gene was characterized with well-preserved retro-orbital and bone marrow fat in the absence of any visible residual adipose tissue in other areas. No residual adipose tissue was observed in AGL. Despite loss of subcutaneous fat, periarticular adipose tissue was preserved in the lower limbs of patients with FPLD. Retro-orbital adipose tissue was surprisingly preserved in APL, although they lacked head and neck fat. CONCLUSION Lipodystrophies are a heterogeneous group of disorders characterized by generalized or partial loss of adipose tissue, which can be congenital or acquired. Our results suggest that residual adipose tissue characteristics can help distinguish different subtypes of lipodystrophy.
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    Interference in ACTH immunoassay negatively impacts the management of subclinical hypercortisolism
    (Springer, 2017) Yener, Serkan; Demir, Leyla; Demirpence, Mustafa; Baris, Mustafa Mahmut; Simsir, Ilgin Yildirim; Ozisik, Secil; Comlekci, Abdurrahman; Demir, Tevfik
    Purpose Low plasma corticotropin is considered a useful parameter for the diagnosis of subclinical hypercortisolism in patients with an adrenal incidentaloma. However, immunoassays are vulnerable to interference from endogenous antibodies. In this study, subjects who underwent Hypothalamus-pituitary-adrenal axis evaluation for the assessment of subclinical hypercortisolism were evaluated. The objective of the study was to ascertain whether antibody interference in corticotropin immunoassay affected the diagnostic work-up and clinical decisions. Methods The 437 consecutive patients with incidentally discovered adrenal adenomas were included in this single centre study. Patients who had a combination of a nonsuppressed corticotropin concentration (> 4.4 pmol/L) and a non-suppressed cortisol concentration after 1 mg overnight dexamethasone suppression test (> 50 nmol/L) were selected. Eight eligible subjects without specific features of Cushing's syndrome were identified and recruited for interference studies and follow-up. Nine controls including one patient with unilateral adrenalectomy and one patient with Cushing's disease were recruited as well. Measurements Eligible subjects and controls were subjected to hormonal tests and investigations for suspected interference. Interference studies included measurement of corticotropin on a different analytical platform, serial dilutions, polyethylene glycol precipitation and heterophilic antibody analysis. Patients were followed with clinical and laboratory parameters for a median duration of 30 (12-90) months. Results Antibody interference was identified in four patients. Rheumatoid factor was responsible for the interference in one patient. Clinical management of the patients was affected by the erroneous results. Interference tests were negative in control subjects. Conclusion Erroneous results associated with analytical interference negatively impacted on clinical decision making in this patient group. This should be considered particularly in conditions such as subclinical hypercortisolism which decisions depend on laboratory investigations mainly. Analytical interference could explain the high variability observed both in field measurements from patients who were expected to have lower corticotropin concentrations and in subclinical hypercortisolism prevalence reported by different studies. Many problems can be resolved by ensuring good communication between clinical and laboratory staff.
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    Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey
    (Oxford Univ Press Inc, 2016) Akinci, Bans; Onay, Huseyin; Demir, Tevfik; Ozen, Samim; Kayserili, Hulya; Akinci, Gulcin; Nur, Banu; Tuysuz, Beyhan; Ozbek, Mehmet Nun; Gungor, Adem; Simsir, Ilgin Yildirim; Altay, Canan; Demir, Leyla; Simsek, Enver; Atmaca, Murat; Topaloglu, Haluk; Bilen, Habib; Atmaca, Hulusi; Atik, Tahir; Cavdar, Umit; Altunoglu, Umut; Aslanger, Ayca; Mihci, Ercan; Secil, Mustafa; Saygili, Fusun; Comlekci, Abdurrahman; Garg, Abhimanyu
    Context: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near-total lack of body fat. Objective: We aimed to study natural history and disease burden of various subtypes of CGL. Design: We attempted to ascertain nearly all patients with CGL in Turkey. Setting: This was a nationwide study. Patients or Other Participants: Participants included 33 patients (22 families) with CGL and 30 healthy controls. Main Outcome Measure(s): We wanted to ascertain genotypes by sequencing of the known genes. Whole-body magnetic resonance imaging was used to investigate the extent of fat loss. Metabolic abnormalities and end-organ complications were measured on prospective follow-up. Results: Analysis of the AGPAT2 gene revealed four previously reported and four novel mutations (CGL1; c.144C>A, c.667_705delinsCTGCG, c.268delC, and c.316 + 1G > T). Analysis of the BSCL2 gene revealed four different homozygous and one compound heterozygous possible disease-causing mutations (CGL2), including four novel mutations (c.280C > T, c. 631delG, c. 62A > T, and c. 465-468delGACT). Two homozygous PTRF mutations (c.481-482insGTGA and c. 259C > T) were identified (CGL4). Patients with CGL1 had preservation of adipose tissue in the palms, soles, scalp, and orbital region, and had relatively lower serum adiponectin levels as compared to CGL2 patients. CGL4 patients had myopathy and other distinct clinical features. All patients developed various metabolic abnormalities associated with insulin resistance. Hepatic involvement was more severe in CGL2. End-organ complications were observed at young ages. Two patients died at age 62 years from cardiovascular events. Conclusions: CGL patients from Turkey had both previously reported and novel mutations of the AGPAT2, BSCL2, and PTRF genes. Our study highlights the early onset of severe metabolic abnormalities and increased risk of end-organ complications in patients with CGL.
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    Partial lipodystrophy of the limbs in a diabetes clinic setting
    (Elsevier Sci Ltd, 2016) Demir, Tevfik; Akinci, Baris; Demir, Leyla; Altay, Canan; Atik, Tahir; Cavdar, Umit; Secil, Mustafa; Comlekci, Abdurrahman
    Objective: Partial lipodystrophy of the limbs (PLL) is a newly described form of lipodystrophy that is characterized by symmetrical distal lipoatrophy of the limbs and insulin resistant diabetes. Research design and methods: In this study, we prospectively screened our patients with type 2 diabetes for the presence of PLL phenotype. Metabolic parameters of PLL patients were compared to those with type 2 diabetes who applied to our diabetes clinic during the same period of time. Results: Between Sep 2013 and Mar 2015, 2020 patients with type 2 diabetes were evaluated for the presence of PLL. PLL was confirmed in 16 patients. The prevalence of PLL was calculated as 0.79% in our diabetes clinic. The most common phenotypic presentations were loss of subcutaneous fat in the forearms, calves and thighs, and loss of fat in forearms and calves. Patients with PLL had poor metabolic control and marked insulin resistance compared to subjects with type 2 diabetes. Diabetes had been diagnosed at a younger age in patients with PLL. Patients with PLL also had more atherogenic lipid profiles. Conclusions: Our data suggests that PLL is a relatively common form of lipodystrophy in diabetes clinics, which is associated with poor metabolic control and marked insulin resistance. The recognition of PLL in patients with type 2 diabetes can help better clinical management by alerting the physician to these associated co-morbidities. (C) 2015 Primary Care Diabetes Europe. Published by Elsevier Ltd. All rights reserved.