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Carolina Chaves, Mariana Chaves, João Anselmo, and Rui César

Background Berardinelli–Seip congenital lipodystrophy (BSCL) is a rare disease, with an estimated prevalence of 1 in 10 million worldwide and 1:500 000 cases in Portugal ( 1 ). It is characterized by the absence of subcutaneous adipose tissue

Open access

Fiona Melzer, Corinna Geisler, Dominik M Schulte, and Matthias Laudes

Background Lipodystrophy (LD) syndromes are rare heterogeneous disorders with diverse pathophysiology characterized by selective deficiency (partial LD) or complete (total LD) loss of adipose tissue with ectopic lipid accumulation, for example

Open access

P Hanson, M Pandit, V Menon, S Roberts, and T M Barber

aetiology of fat necrosis is thought to result from local trauma and tissue injury caused by both physical and chemical insults, stimulating an inflammatory reaction within the adipose tissue (3) . Aseptic saponification of fat by lipases was proposed to be

Open access

Athanasios Fountas, Zoe Giotaki, Evangelia Dounousi, George Liapis, Alexandra Bargiota, Agathocles Tsatsoulis, and Stelios Tigas

Background Lipodystrophy is a rare group of clinically heterogeneous disorders characterized by the complete or partial loss of subcutaneous adipose tissue ( 1 , 2 ). This condition is often accompanied by metabolic complications such as

Open access

Benthe A M Dijkman, Christel J M de Blok, Koen M A Dreijerink, and Martin den Heijer

Background Estradiol is known to be the main initiator of breast development and growth during puberty. Breast maturation following estradiol exposure includes ductal proliferation and accumulation of adipose tissue. Progesterone is known for

Open access

Priya Darshani Chhiba and David Segal

spontaneously over time by avoiding the injection area, which also occurred in our index case. Discussion Lipodystrophy is a disorder of adipose tissue, presenting either as lipohypertrophy or lipoatrophy ( 5 ). Lipoatrophy is defined as a large, often

Open access

Ulla Kampmann, Per Glud Ovesen, Niels Møller, and Jens Fuglsang

. Hyperleptinemia is a result of an increased synthesis and secretion from abundant adipose tissue ( 6 ), but leptin is also secreted in the placenta and leptin levels increase substantially during pregnancy. McIntyre et al. conclude that maternal insulin

Open access

Aysenur Ozderya, Sule Temizkan, Kadriye Aydin Tezcan, Feyza Yener Ozturk, and Yuksel Altuntas

supraclavicular area ( Fig. 2 ). Biopsies from these areas were concordant with lipomatous tissue ( Fig. 3 ). An abdominal CT examination revealed an enlarged liver (cranio-caudal axis: 24 cm) and spleen. After a differential diagnosis of the causes of the

Open access

Baris Akinci, Rasimcan Meral, Diana Rus, Rita Hench, Adam H Neidert, Frank DiPaola, Maria Westerhoff, Simeon I Taylor, and Elif A Oral

Background Lipodystrophy syndromes are a heterogeneous cluster of diseases characterized by loss of subcutaneous adipose tissue that leads to severe insulin resistance and dyslipidemia. Metreleptin therapy is now an approved treatment for

Open access

Punith Kempegowda, Wentin Chen, Eka Melson, Annabelle Leong, Prashant Amrelia, and Ateeq Syed


A 37-year-old female of South Asian origin was referred to our diabetes clinic for evaluation of an unusual finding during her retinal screening. Her retinal blood vessels appeared white in contrast to the normal pink-red colour. She had type I hyperlipidaemia, confirmed by genotype, and was recently diagnosed with diabetes, secondary to pancreatic insufficiency, for which she had suboptimal control and multiple hospitalisations with recurrent pancreatitis. On examination, she had multiple naevi on her skin; the rest of the examination was unremarkable. The patient did not report any visual disturbances and had intact visual acuity. Investigations showed raised total cholesterol (12.5 mmol/L) and triglycerides (57.7 mmol/L). Following evaluation, the patient was diagnosed with lipaemia retinalis, secondary to type I hyperlipidaemia. The patient was managed conservatively to reduce the cholesterol and triglyceride burdens. However, therapies with orlistat, statin, fibrates and cholestyramine failed. Only a prudent diet, omega-3 fish oil, medium-chain triglycerides oil and glycaemic control optimised with insulin showed some improvements in her lipid profile. Unfortunately, this led her to becoming fat-soluble vitamin deficient; hence, she was treated with appropriate supplementation. She was also recently started on treatment with volanesorsen. Following this, her lipid parameters improved and lipaemia retinalis resolved.

Learning points

  • Lipaemia retinalis is an uncommon incidental finding of type I hyperlipidaemia that may not affect vision.

  • Management of associated dyslipidaemia is challenging with minimal response to conventional treatment.

  • Increased awareness of lipaemia retinalis and specialist management is needed as part of regular patient monitoring and personalised management.