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Histiocytosis and Lipid Storage Diseases
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Salwa Shabbir Sheikh, David F. Garvin
Lipid storage diseases are basically characterized by the following: An enzyme defect in the normal catabolic pathwayAccumulation of nondigestible intracellular material in the macrophagesUsually considered as inborn errors of metabolism
A comparison of the genetic and clinical risk factors for arterial hypertension between indigenous and non-indigenous people of the Shoria Mountain Region
Published in Clinical and Experimental Hypertension, 2018
Tatyana Mulerova, Michael Ogarkov, Evgenya Uchasova, Michael Voevoda, Olga Barbarash
The risk of developing hypertension is greater in people with obesity, metabolic syndrome, and dyslipidemia. Middle-aged people with excess body weight (> 50% above normal) are more likely to develop hypertension. The distribution of adipose tissue in the body also plays a decisive role in the formation of the pathologies associated with obesity. The deposition of fat in the abdomen is particularly unfavorable, as it leads to transabdominal-type obesity. Visceral fat is now considered to be an active, hormone-producing tissue characterized by dysfunction of the adipocytes (2). This type of obesity predisposes individuals to hypertension, heart attacks, strokes, and diabetes. One of the most frequent and dangerous phenomena associated with AH is disturbance in the blood lipid structure, which is found in 40–85% of patients with high blood pressure (BP). Lipid storage disease can significantly aggravate the prognosis of diseases: the mortality risk of patients with hypercholesterolemia (HCH) increases by 30% and the risk in patients with hypertriglyceridemia (HTG) increases by 27% (3). AH accompanied by metabolic disorders, such as fasting hyperglycemia and glucose intolerance, accelerates the development of coronary heart disease, heart and renal failure, cerebral complications, and peripheral vascular disease, and is associated with higher risks for complications, disability, and premature death (4).
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin
Published in International Journal of Neuroscience, 2020
Hongliang Xu, Xin Chen, Yajun Lian, Shuya Wang, Tuo Ji, Lu Zhang, Shuang Li
Regarding the differential diagnosis, neutral lipid storage disease with skin involvement (ichthyosis) (Chanarin-Dorfman syndrome, OMIM 275630), a condition that has the similar clinical presentation, should be taken into account. Chanarin-Dorfman syndrome was caused by recessive mutations in ABHD5 gene [28,29]. For our case, the next generation sequence revealed no mutation in the ABHD5 gene and clinical features, including skin damage [30,31], MRI pattern of the thighs [32], and involvement of the organs [33,34] were different from Chanarin-Dorfman syndrome. Thus, the consideration of Chanarin-Dorfman syndrome could be excluded.
Jordans' Anomaly as a Red Flag for Neutral Lipid Storage Diseases
Published in Fetal and Pediatric Pathology, 2022
Moeinadin Safavi, Mohammad Vasei, Farzaneh Motamed
Jordans’ anomaly is the abnormal accumulation of lipid droplets in myeloid cells. It is associated with neutral lipid storage diseases caused by mutations in the PNPLA2 gene encoding adipose triglyceride lipase (ATGL) and the ABHD5 gene encoding a protein with α/β hydrolase fold working as a cofactor for ATGL. The former mutation causes neutral lipid storage disease with myopathy in adults, and the latter mutation results in a more severe type of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome) which can present in childhood [1–2].