Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report two patients with chronic, recurrent, nodular panniculitis lesions that later developed areas of lipoatrophy. Histologically, there was a consistent lobular lipophagic replacement of fat cells with lipophagic giant cells. The clinical appearance was that of tender, erythematous, superficial or subcutaneous, symmetrical nodules and plaques of 1-2 weeks' duration. The lesions could occur with episodes of fever. One patient had hepatomegaly and the other had an increased sedimentation rate and leucocytosis. The histology and the clinical pattern of the panniculitus syndrome resembled those of lipophagic lipoatrophy of childhood. This is a panniculitis of unknown cause in which the principal inflammatory cell response in the subcutaneous tissue is the macrophage.
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PMID:Adult lipophagic atrophic panniculitis. 201 38

A 26-year-old woman developed partial lipoatrophy 12 years after juvenile dermatomyositis was diagnosed. Renal function was normal, but she had other features typically associated with partial lipoatrophy, including hepatomegaly, acanthosis nigricans, hypertrichosis, and hyperinsulinemia.
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PMID:Juvenile dermatomyositis associated with partial lipoatrophy. 843 56

We report dramatic improvement in clinical and laboratory parameters after intensive plasma exchange therapy in a 15-yr-old girl with acquired generalized lipoatrophy and refractory hypertriglyceridemia. One hundred and twenty-five procedures were performed over 720 d. Two or three plasma volumes were exchanged per procedure, using peripheral venous access and albumin as replacement solution. Regression of painful cutaneous xanthomata and reduction in massive hepatomegaly were noted within the first two procedures. Triglyceride levels started at 109 mmol/liter (9670 mg/dl) and decreased acutely by 60-85%/procedure. Lipid removal averaged 83 g/procedure and was highly correlated with preexchange lipid levels. Lipid levels rebounded to baseline values within 7 d after exchange and appeared to rebound more rapidly after larger exchanges. Maximum benefit was achieved with weekly 1.5- to 2.0-volume exchanges. No significant decrease in apolipoprotein CII levels was detected after plasma exchange regardless of the volume of exchange; however, other plasma factors regulating triglyceride synthesis or clearance may have been removed during the procedures. Plasma exchange was well tolerated, without clinical, immunological, or hormonal deterioration. These data indicate that intensive plasma exchange therapy over a protracted time may produce sustained benefit in patients with severe, symptomatic hypertriglyceridemia refractory to standard medical therapy.
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PMID:Intensive, long-term plasma exchange therapy for severe hypertriglyceridemia in acquired generalized lipoatrophy. 1178 80

Conjugated linoleic acids (CLA) are a class of positional, geometric, conjugated dienoic isomers of linoleic acid (LA). Dietary CLA supplementation results in a dramatic decrease in body fat mass in mice, but also causes considerable liver steatosis. However, little is known of the molecular mechanisms leading to hepatomegaly. Although c9,t11- and t10,c12-CLA isomers are found in similar proportions in commercial preparations, the respective roles of these two molecules in liver enlargement has not been studied. We show here that mice fed a diet enriched in t10,c12-CLA (0.4% w/w) for 4 weeks developed lipoatrophy, hyperinsulinemia, and fatty liver, whereas diets enriched in c9,t11-CLA and LA had no significant effect. In the liver, dietary t10,c12-CLA triggered the ectopic production of peroxisome proliferator-activated receptor gamma (PPARgamma), adipocyte lipid-binding protein and fatty acid transporter mRNAs and induced expression of the sterol responsive element-binding protein-1a and fatty acid synthase genes. In vitro transactivation assays demonstrated that t10,c12- and c9,t11-CLA were equally efficient at activating PPARalpha, beta/delta, and gamma and inhibiting liver-X-receptor. Thus, the specific effect of t10,c12-CLA is unlikely to result from direct interaction with these nuclear receptors. Instead, t10,c12-CLA-induced hyperinsulinemia may trigger liver steatosis, by inducing both fatty acid uptake and lipogenesis.
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PMID:Dietary trans-10,cis-12 conjugated linoleic acid induces hyperinsulinemia and fatty liver in the mouse. 1223 71

Lipodystrophies represent a group of diseases characterized by altered body fat repartition and major metabolic alterations with insulin resistance. Genetic forms of partial lipodystrophy are currently recognized as two syndromes with subcutaneous lipoatrophy but preserved or increased fat at the level of face and neck (Dunnigan syndrome or FPLD due to LMNA mutations) and/or abdomen (PPARgamma-linked forms) and are both transmitted as dominant diseases. FPLD is further characterized by muscular hypertrophy, hyperandrogenism, acanthosis nigricans, hepatomegaly with steatosis and at the biological level, marked hypertriglyceridaemia, low HDL cholesterol, insulin resistance and altered glucose tolerance or diabetes. These signs occur after puberty and their prevalence and severity are more marked in female than in male patients. At the genetic level, LMNA mutations concern in most cases the type-A lamin C-terminal domain and more than 80% are heterozygous substitutions located at position 482 (R482W/Q/L). The other locations are G465D, K486N, R582H and R584H. The presence of signs evocative of limb-girdle muscular dystrophy has been reported in patients with typical forms of FPLD. In addition, forms presenting with lipodystrophy and myopathy have been reported for patients with mutations at position R28W, R60G, R62G or R527P. In addition, lipodystrophy, either partial or generalized, can be associated with syndromes of premature ageing like Hutchinson-Gilford progeria or acromandibular dysplasia, but also with other phenotypes, as we described in a patient bearing the LMNA R133L heterozygous substitution.
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PMID:A-type lamin-linked lipodystrophies. 1577 53

Non-alcoholic steatohepatitis (NASH) is one of the most common liver disorders. This is highly prevalent in obese and diabetic subjects. Persons with central obesity are at particular risk. Other clinical predictors are age more than 40-50 years and hyperlipidemias, but none of these factors is invariable for causation of NASH. Other reported associations are, celiac disease, Wilson's Disease and few other metabolic diseases. Drugs, particularly amiodarone, tamoxifen, nucleoside analogues and methotrxate have also been linked to NASH. The disease is evenly distributed in both sexes but advanced disease is more common in women. Ethnic variation exists and African Americans are less affected than Hispanic Americans. Specific clinical features of NASH are infrequent. Patients usually come to clinical attention by elevated liver enzymes found on routine evaluation but on history, about two third of patients will admit to have mild fatigue and about half will report right upper quadrant pain. Rarely, patient may present with a complication of cirrhosis. Physical examination may reveal hepatomegaly and splenomegaly. Research in last few years has stressed that development of steatosis, stetohepatitis, fibrosis with subsequent cirrhosis are most probably the result of insulin resistance. Therefore, clinical features may reflect existence of insulin resistance. Obesity, particularly central obesity is most important of these. Patients may have sleep apnea syndrome. Hypertension and manifestations of diabetes mellitus like polyuria, polydypsia, and neurological deficits may occur. Patients may have varying combination of obesity, diabetes, hyperlipidemia, hypertension and impaired fibrinolysis (syndrome X). Children with insulin resistance may show acanthosis nigricance. Patients with polycystic ovary syndrome, which consists of insulin resistance, diabetes, obesity, hirsutism, oligo or polymenorrha and hyperlipidemia may have NASH. Other rare manifestations of insulin resistance, which can be seen in patients of NASH are lipomatosis, lipoatrophy/lipodystrophy and panniculitis. Most other rare conditions known to cause NASH like peroxisomal diseases, mitochondialpathies, Weber-Christian disease, Mauriac syndrome, Madelung's lipomatosis and abetaliopprotenemia also have insulin resistance. This is believed that primary defect underlying insulin resistance is impairment in postreceptor pathways (through tyrosine kinase activity) of insulin action. Primary defect in insulin receptors appear uncommon. This results in down regulation of insulin receptor substance 1 (IRS-1) signaling by excess free fatty acids. In muscle, activated IRS-1 promotes translocation of glucose transporter protein 4 (GLUT4) to cell membrane. As a result, monocyte glucose uptake by GLUT4 increases glucose disposal from blood and reduced need for insulin. PKC-0 is a likely candidate as serine kinase in muscle regulated by fatty acids that can impair the activation of IRS-1. Insulin resistance is usually evaluated by fasting insulin levels, Quantitative Insulin Check Index (QUICKI) and Homeostasis Model Assessment of Insulin Resistance (HOMA), C-peptid/insulin ratio oral glucose tolerance test and hyper insulinemic euglycemic clamp. The clamp technique is considered the gold standard.
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PMID:Insulin resistance and clinical aspects of non-alcoholic steatohepatitis (NASH). 1619 20

Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. On the basis of mutational and haplotype analysis, BSCL families have been classified into three types BSCL 1, BSCL2 and BSCLX. We report Berardinelli-Seip congenital lipodystrophy (BSCL2 type) in three subjects from two unrelated Indian families (family1 and family2). The mutation (c.IVS2 11 A GT G ) found in affected members of family1 is a newly identified mutation. We also report the association of renal anomaly with this new mutation.
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PMID:Berardinelli-Seip congenital lipodystrophy. 1673 70

POEMS syndrome is a rare paraneoplastic syndrome due to a plasma cell dyscrasia, which includes peripheral neuropathy, organomegaly, endocrinopathy, monoclonal plasma cell proliferation and skin changes. Elevated levels of VEGF (vascular endothelial growth factor) in the serum of patients are suggested to play a pivotal role in the pathophysiology. A 60-year-old male presented with POEMS syndrome and painful edema, skin thickening of the distal extremities and livid-erythematous discoloration. The sclerotic changes resulted in a severe limitation of joint flexibility. Furthermore, the patient showed clubbing, white nails and a facial lipoatrophy. In addition to the skin changes, the patient was diagnosed with polyneuropathy, monoclonal gammopathy (type lambda), high elevated VEGF-levels, hepatomegaly, lymphadenopathy, hypothyreosis, hypogonadism and thrombocytosis in the course of POEMS syndrome. Treatment with 4 cycles of bortezomib and dexamethasone resulted in improvement of symptoms.
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PMID:[POEMS syndrome. An interdisciplinary clinical challenge]. 2191 31

Berardinelli-Seip syndrome type 1 or Berardinelli-Seip congenital lipodystrophy 1 (BSCL1) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. Its prevalence in Egypt is not known. Here, we report case of a 12-year-old Egyptian boy with the clinical, metabolic and molecular genetics manifestations of BSCL1 including overt diabetes mellitus.
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PMID:Berardinelli-Seip syndrome type 1 in an Egyptian child. 2495 19

The objective of this study is to describe the unexpected association between the congenital generalized lipodystrophy (CGL) and Dandy Walker anomaly. We report the case of a 1-year-old infant who was hospitalized at her fourth month of life with Dandy Walker anomaly diagnosis and an increased social risk. During her hospitalization, she developed progressively: acromegaloid aspect, triangular fascia, hirsutism, lipoatrophy, muscle hypertrophy, clitoromegaly, abdominal distention, progressive hepatomegaly, and hypertriglyceridemia. This led to the clinical diagnosis of congenital generalized lipodystrophy. Importance should be given to the examination of clinical aspects as well as the interdisciplinary follow-up for proper detection of insulin resistance and diabetes, early puberty, cardiomyopathy, among others. In case of Dandy Walker anomaly, it should be checked the evolution to search intracranial hypertension signs. Due to its autosomal recessive nature, it is important to provide genetic counseling to the parents.
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PMID:[Congenital generalized lipodystrophy in a patient with Dandy Walker anomaly]. 2519 34


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