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Diabetes Mellitus, Obesity, Lipoprotein Disorders and other Metabolic Diseases
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
The most common reason for the treatment of dyslipidaemia is the secondary prevention of vascular disease in people with established atherosclerotic disease and the primary prevention of vascular disease in those at high risk (Table 11.23). Less often, therapy is given to reduce the risk of pancreatitis. Eruptive xanthomas in chylomicronaemia and palmar and tuberoeruptive xanthomas can disappear with therapy.
Obesity and Lipid Disorders
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Christine San Giovanni, Janet Carter, Elise Rodriguez
Familial Hypercholesterolemia (FH) is an autosomal codominant genetic disease associated with elevated LDL-C from birth due to a genetic mutation in the LDL receptor gene. Xanthomas, which are deposits of cholesterol in extravascular tissues, are found in untreated adults and patients with homozygous FH. These patients are at significant risk of early-onset atherosclerotic disease. Research has shown that adolescents with significantly high LDL cholesterol levels caused by FH have abnormal levels of coronary calcium, increased carotid intima medial thickness, and impaired endothelial function, which precedes cardiovascular disease (Table 25.3).
Metabolic disorders and reticulohistiocytic proliferative disorders
Published in Rashmi Sarkar, Anupam Das, Sumit Sethi, Concise Dermatology, 2021
Xanthelasma is a common form of xanthoma in which lesions appear as arcuate or linear yellowish soft plaques around the eyes (Figure 16.7). The condition is not associated with hyperlipidemia in 60–70% of patients. The lesions can be removed by surgical excision, electrocautery, or by topical treatment with trichloroacetic acid, if the patient finds them to be a cosmetic nuisance. However, they may often recur after treatment.
Clinical, laboratory and genetic features of Erdheim-Chester disease patients: analysis of a retrospective cohort of two reference centers in Latin America
Published in Hematology, 2022
Antonio Adolfo Guerra Soares Brandão, André Ramires Neder Abdo, Luís Alberto de Pádua Covas Lage, Giancarlo Fatobene, Juliana Pereira, Vanderson Rocha
In our cohort, the main ECD involved organ was bone (75% – 12/16), followed by skin (43.8% – 7/16), central nervous system (CNS) (43.8% – 7/16), lymph node (25% – 4/16), lung (12.5% – 2/16), liver (6.3% – 1/16), spleen (6.3% – 1/16), muscle (6.3% – 1/16) and gastrointestinal tract (6.3% – 1/16). The majority of CNS lesions occurred in the pituitary gland (86% – 6/7). Twelve patients (75%) presented involvement of more than one organ, characterizing a multi-organic form. Xanthelasma and xanthomas were the most common skin lesions. The most frequent clinical manifestations were bone pain (43.8% – 7/16) and neurogenic diabetes insipidus (37.5% – 6/16). Osteosclerotic lesions occurred in 75% (12/16) of cases, retroperitoneal fibrosis and thickening of the renal fascia (‘hairy kidney’ or ‘perinephric straining’) in 37.5% (6/16), 25% (4/16) presented coated aortic sign, and orbital infiltration was found in 25% (4/16), constituting the highly specific features for the diagnosis of ECD. Table 1 summarizes the main clinical-molecular characteristics, therapeutic modalities and responses of the 16 Brazilian patients with ECD included in our analysis.
Periocular amyloid papules as a presenting sign in multiple myeloma
Published in Clinical and Experimental Optometry, 2020
Alexandra Scherk, Alanna Khattar
Melasma, which was the preliminary diagnosis, are flat grey‐brown patches which occur when the melanocytes in the skin produce excess pigment. These lesions can be triggered by sun exposure, changes in hormones or skin care products, none of which were present for the patient in this case. Xanthoma is an accumulation of lipids which usually occur secondary to high cholesterol levels.2016 The patient in this case did not exhibit elevated levels of cholesterol. Papillomas are benign lesions that can present in various shapes, sizes, and colours. These lesions can present in isolation or in multiples, unilaterally or bilaterally. Purpura are small purple spots on the skin which can be signs of platelet disorders, infectious diseases such as human immunodeficiency virus, or amyloidosis.2006 The patient in this case did not present with any purple or bruise‐like lesions. Ultimately, a biopsy was used in this case to determine the aetiology of the eyelid lesion.
Eruptive xanthoma associated with severe hypertriglyceridemia and poorly controlled type 1 diabetes mellitus
Published in Journal of Community Hospital Internal Medicine Perspectives, 2019
Xanthomas are disorders of lipoprotein metabolism and formed by an accumulation of cholesterol-rich substance. Several types of xanthomas can be classified based on clinical manifestations. Xanthelasma is the most common form which showed 4.4% in the population with an even distribution between men and women in a recent prospective study [4]. Xanthelasma usually presents on or around the eyelids with bilateral and symmetric distribution and the lesions are soft, yellow, small, nontender, nonpruritic papules around the eyelids. Xanthelasma can occur without hyperlipidemia, particularly in older patients, but is often associated with familial dyslipidemias when seen in a younger patient. Tuberous xanthomas are primarily located over joints and present as firm, painless, red-yellow nodules that often merge into forming multi-lobated tumor-like lesions. They can be associated with severe hypercholesterolemia and elevated LDL levels and some of the secondary hyperlipidemia (e.g. nephrotic syndrome, hypothyroidisom). Tendinous xanthomas are slowly enlarging subcutaneous nodules in association with the tendons or the ligaments. The usual locations include the extensor tendons of the hands, the feet and the Achilles tendons. The tendinous xanthomas associated with severe hypercholesterolemia and elevated LDL levels, particularly in familial hypercholesterolemia [3,4].