Most cases of hypertriglyceridemia (HTG)-induced gestational pancreatitis occur when a person with hyperlipidemia is overweight due to pregnancy or has secondary triggers associated with triglycerides (TGs). In Korea, 6 cases of HTG-induced gestational pancreatitis have been reported, but none of the affected patients had TG levels below 1,000 mg/dL. A 36-year-old female at 30 weeks of gestation was admitted due to pain in her upper abdomen. Initial biochemical analysis revealed a TG level of 260 mg/dL, an amylase level of 2,951 U/L and a lipase level of 3,500 U/L. Abdominal ultrasonography showed pancreatic swelling with a hypoechogenic rim. After several days, the patient was discharged and had a normal delivery at 38 weeks of gestation. This case report is the first to describe acute pancreatitis occurring in the presence of type IV hyperlipoproteinemia even though the TG level was less than 500 mg/dL, contrary to findings in previously reported cases.
Abdomen ; Adult ; Amylases ; Female ; Humans ; Hyperlipidemias ; Hyperlipoproteinemia Type IV ; Hypertriglyceridemia ; Korea ; Lipase ; Overweight ; Pancreatitis ; Pregnancy ; Triglycerides ; Ultrasonography

No abstract available.
Hyperlipoproteinemia Type IV* ; Hyperlipoproteinemias ; Xanthomatosis*

Diabetes mellitus (DM) can be complicated by a variety of cutaneous manifestations. Various xanthoma can appear, according to different subtypes of hyperlipopoteinemia, which is caused by only primary causes, like familial hyperlipoproteinemia, but also secondary causes that is DM, thyroid gland disorder, and diet. Dermatologic findings may even precede any clinical or biological evidence of DM. Thus, cognition of specific dermatologic findings, like xanthoma, can help identify DM, especially in children. We report a case of type IV hyperlipoproteinemia and eruptive xanthoma, associated with DM in a 12-year-old female. She was diagnosed of type IV hyperlipoproteinemia, through a lipid profile, electrophoresis and eruptive xanthoma from a skin biopsy. Although she showed overweight in BMI and had a mother with Type 2 DM, she was too little to have DM, and showed normal urine test. We examined thyroid function test and fasting blood sugar to rule out secondary hyperlipoproteinemia. Fasting blood sugar was increased enough to diagnose her with DM.
Biopsy ; Blood Glucose ; Child ; Cognition ; Diabetes Mellitus ; Diabetes Mellitus, Type 2 ; Diet ; Electrophoresis ; Fasting ; Female ; Humans ; Hyperlipoproteinemia Type IV ; Hyperlipoproteinemias ; Mothers ; Overweight ; Skin ; Thyroid Function Tests ; Thyroid Gland ; Xanthomatosis

OBJECTIVETo perform linkage analysis and mutation screening in a Chinese family with familial hpertriglyceridemia (FHTG).

METHODSThirty-two family members including 12 hypertriglyceridemia patients participated in the study. Genotyping and haplotype analysis for 22 subjects were performed using short tandem repeat (STR) microsatellite polymorphism markers on 16 candidate genes and/or loci related to lipid metabolism. Two of the sixteen known candidate genes, APOA2 and USF1 were screened for mutation by direct DNA sequencing.

RESULTSNo linkage was found between the candidate genes/loci of APOA5, LIPI, RP1, APOC2, ABC1, LMF1, APOA1-APOC3-APOA4, LPL, APOB, CETP, LCAT, LDLR, APOE and the phenotype in this family. The two-point Lod scores (theta =0) were all less than-1.0 for all the markers tested. Linkage analysis suggested linkage to chromosome 1q23.3-24.2 between the disease phenotype and STR marker D1S194 with a two-point maximum Lod score of 2.44 at theta =0. Fine mapping indicated that the disease gene was localized to a 5.87 cM interval between D1S104 and D1S196. No disease-causing mutation was detected in the APOA2 and USF1 genes.

CONCLUSIONThe above mentioned candidate genes were excluded as the disease causing genes for this family. The results implied that there might be a novel gene/locus for FHTG on chromosome 1q23.3-1q24.2.

Adult ; Chromosome Mapping ; Chromosomes, Human, Pair 1 ; genetics ; Genetic Linkage ; Genotype ; Haplotypes ; Humans ; Hyperlipoproteinemia Type IV ; genetics ; Lod Score ; Male ; Middle Aged ; Pedigree

Type IV hyperlipoproteinemia is characterized by increased blood levels of the triglyceride form of the fat that makes up very low-density lipoproteins (VLDL). Eruptive xanthomas have been frequently observed in type I and V hyperlipoproteinemias but rarely observed in patients with type IV hyperlipoproteinemia. The Koebner phenomenon is the development of the isomorphic skin lesions in persons with certain skin diseases after an injury has occurred on skin of normal appearance. Although this response can develop in psoriasis, lichen planus, verruca etc., it has seldom been associated with eruptive xanthoma. We report a case of eruptive xanthoma with type IV hyperlipoproteinemia and Koebner phenomenon in a 28-year-old Korean male.
Adult ; Humans ; Hyperlipoproteinemia Type IV ; Hyperlipoproteinemias ; Lichen Planus ; Lipoproteins, LDL ; Male ; Psoriasis ; Skin ; Skin Diseases ; Warts ; Xanthomatosis

We report a case of type IV hyperlipoproteinemia and eruptive xanthoma associated with diabetes mellitus in a 38-year-old male patient. He had multiple, erythematous, yellowish papules on the trunk, extremities and buttocks. Laboratory examinations showed an increase in serum blood glucose, cholesterol and triglyceride. Lipoprotein electrophoresis revealed increased pre-beta bands and a plasma standing test showed turbid plasma. Analysis of lipoprotein revealed an increase of triglyceride levels in the plasma. A skin biopsy from the lesion revealed a xanthoma. We diagnosed the patient as having type IV hyperlipoproteinemia with eruptive xanthoma. After 3 months of treatment with diet restrictions and fenofibrate, the serum level of triglyceride was reduced to a normal level, and the skin lesions disappeared.
Adult ; Biopsy ; Blood Glucose ; Buttocks ; Cholesterol ; Diabetes Mellitus* ; Diet ; Electrophoresis ; Extremities ; Fenofibrate ; Humans ; Hyperlipoproteinemia Type IV* ; Hyperlipoproteinemias ; Lipoproteins ; Male ; Plasma ; Skin ; Triglycerides ; Xanthomatosis*

OBJECTIVEThe aim of the study was to investigate apolipoprotein(apo) E polymorphism and its relationship with serum lipids and apolipoprotein, serum high density lipoprotein(HDL) subclasses in patients with type IV hyperlipidemia.

METHODSapoE genotype was assayed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The subclasses of serum HDL in 103 patients with type IV hyperlipidemia and 146 normolipidemic subjects were determined by two-dimensional gel electrophoresis in conjunction with immunodetection method.

RESULTSThe apoE3/3 genotype frequency and allele epsilon 3 frequency were both the highest in the frequency distribution profiles of the type IV hyperlipidemia group and the control group. In type IV hyperlipidemia group, the genotype of apoE2 had higher serum HDL-C,apoE, HDL(2a) apoE/apoCIII ratio but lower TG/HDL-C,apoCIII, HDL(3c) levels when compared with the genotype of apoE(3) (P<0.05). In control group, the genotype of apoE(2) had higher serum TG, apoE levels and apoE/aopCIII ratio but lower HDL (3a) level when compared with the genotype of apoE(3) (P<0.05).

CONCLUSIONAn association of allele epsilon 2 of apoE gene with the maturation of HDL in type IV hyperlipidemia was noted in the study.

Adult ; Aged ; Apolipoprotein C-III ; blood ; Apolipoprotein E2 ; blood ; genetics ; Apolipoprotein E3 ; blood ; genetics ; Apolipoproteins E ; blood ; genetics ; Cholesterol, HDL ; blood ; Female ; Humans ; Hyperlipoproteinemia Type IV ; blood ; genetics ; Lipoproteins, HDL ; blood ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Triglycerides ; blood

We report a case of type IV hyperlipoproteinemia associated with xanthoma tuberosum and xanthoma eruptivum, which improved by treatment with gernfibrozil and procetofene. A 46-year-old male patient visited our clinic for evaluation of multiple orange-yellow colored nodules on the elbows and multiple papules on the knees, buttocks and back. Laboratory examination showed an abnormal elevation of serun cholesterol and triglyceride. Lipoprotein electrophoresis showed an increase of pre-b band and plasma standing test showed turbid plasma. Analysis of lipoprotein revealed increase of VLDL level in his plasma. The biopsy specimens from the nodule on the elbow and the papule on the back revealed characteristic findings of xanthoma. We diagnosed the patient as type IV hyperlipoproteinemia. After 5 months of treatment with diet restriction, gemfibrozil, and procetofene, the serum levels of cholesterol and triglyceride were reduced to normal level. The skin lesions of the both back and buttock showed marked improvement and the skin lesions on the elbows and knee were much improved.
Biopsy ; Buttocks ; Cholesterol ; Diet ; Elbow ; Electrophoresis ; Fenofibrate ; Gemfibrozil ; Humans ; Hyperlipoproteinemia Type IV* ; Knee ; Lipoproteins ; Male ; Middle Aged ; Plasma ; Skin ; Triglycerides ; Xanthomatosis*

We report a case of type IV hyperlipoproteinemia associated with xanthoma tuberosum and diabets mellitus in a 48 year old female patient. She had several yellowish-brown papules on the knees and palms. The blood glucose level was elevated and serum lipid and lipoprotein analysis revealed patterns of type IV hyperlipoproteinemia. Histopathologic findings of yellowish-brown papules on the knee showed the aggregation of foam cells in the dermis. She has been treated with diet control and hypolipidemic drug(lovastatin and procetofen) and is under our continuing supervision.
Blood Glucose ; Dermis ; Diabetes Mellitus* ; Diet ; Female ; Foam Cells ; Humans ; Hyperlipoproteinemia Type IV* ; Knee ; Lipoproteins ; Middle Aged ; Organization and Administration ; Xanthomatosis*

A case of plane xanthoma arising in type IV hyperlipoproteinemia in a 53-year old woman is reported. The patient had well-defined yellowish to orange colored slightly elevated plaques on both upper eyelids, cheeks, neck, and upper chest. The laboratory findings showed increased serum triglyceride on lipid profile, and widening of pre-beta band on electrophoresis lipoprotein. She had a fatty liver, mild hepatomegaly, but other systemic diseases such as multiple myeloma, leukemia and lymphoma were not found.
Cheek ; Citrus sinensis ; Electrophoresis ; Eyelids ; Fatty Liver ; Female ; Hepatomegaly ; Humans ; Hyperlipoproteinemia Type IV* ; Leukemia ; Lipoproteins ; Lymphoma ; Multiple Myeloma ; Neck ; Thorax ; Triglycerides ; Xanthomatosis*