Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030305 (pancreatitis)
 16,014 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have characterized the clinical and biochemical features of three siblings of a kindred with severe hypertriglyceridaemia due to apolipoprotein C-II (apo C-II) deficiency caused by the mutation described as apo C-IIHamburg. The clinical syndrome is characterized by recurrent pancreatitis in two of three affected individuals, with discrete hepatosplenomegaly in all three patients and cholelithiasis in one. Eruptive xanthomas and lipemia retinalis were absent. Plasma lipoproteins were characterized by fasting chylomicronaemia, reduced low density lipoproteins (LDL) and low high density lipoproteins (HDL). The marked hypertriglyceridaemia could be corrected promptly by infusion of normal plasma. Apolipoprotein C-II (apo C-II) levels in homozygotes were very low (0.01 mg dl-1), and mean apo C-II levels in heterozygotes were lower (2.08 +/- 0.11 mg dl-1) than in normal family members (3.38 +/- 0.75 mg dl-1). Lipoprotein lipase and hepatic triglyceride lipase activities in post-heparin plasma were normal. Zonal ultracentrifugation revealed a marked increase in triglyceride-rich lipoproteins and reduced LDL and HDL. LDL consisted of two fractions with higher hydrated density of the main fraction compared with normals with a trend to normalization on a fat-free diet. The molecular defect in the apo C-II Hamburg gene has been previously identified as a donor splice site mutation in the second intron. This leads to abnormal splicing of the apo C-II Hamburg mRNA and apo C-II deficiency in plasma. The mutation causes the loss of an HphI restriction enzyme site present in the normal apo C-II gene.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Apolipoprotein C-II deficiency syndrome due to apo C-IIHamburg: clinical and biochemical features and HphI restriction enzyme polymorphism. 134 86

Eruptive xanthomas are often associated with elevated plasma levels of triglyceride-rich lipoproteins and may be a marker for occult hyperlipidemia, diabetes mellitus or pancreatitis. A 42-year-old woman presented with the acute onset of disseminated eruptive xanthomas secondary to hyperlipidemia associated with diabetes and concomitant acute pancreatitis. She improved after optimized insulin therapy and intensified treatment of hyperlipidemia. Eruptive xanthomas should be diagnosed early and lead to further metabolic evaluations.
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PMID:[Eruptive xanthomas with hypertriglyceridemia]. 1856 77

Eruptive xanthoma (EX) is a very rare dermatosis mostly occurring due to high levels of serum triglycerides or uncontrolled diabetes mellitus. When EX is encountered, it is important to keep in mind that it could be a sign of severe underlying metabolic derangements. Early recognition can help avoid serious complications such as pancreatitis. After treatment of the underlying metabolic disorders, lesions mostly disappear without leaving scars. We present a case of a 55-year-old woman who presented with solely EX lesions and who was eventually diagnosed with diabetes mellitus and severe hypertriglyceridaemia.
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PMID:First and only symptom of undiagnosed diabetes mellitus: eruptive xanthoma. 2640 50

Eruptive xanthoma is characterized by yellowish skin papules encircled by an erythematous halo and associated with severe hypertriglyceridemia above 2,000 mg/dl. Hypertriglyceridemia can be caused by primary genetic mutations, secondary causes, such as uncontrolled diabetes, obesity, alcohol overuse, or combinations of both. Eruptive xanthoma can serve as an important clinical indicator of underlying systemic conditions (e.g. hypertriglyceridemia and uncontrolled diabetes mellitus). It is important for clinicians to recognize it to prevent further complications such as pancreatitis and cardiovascular disease.
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PMID:Eruptive xanthoma associated with severe hypertriglyceridemia and poorly controlled type 1 diabetes mellitus. 3152 86