This report presents a case of a male infant, aged 32 days, who was admitted to the hospital due to 2 days of bloody stools and 1 day of fever. Upon admission, venous blood samples were collected, which appeared pink. Blood biochemistry tests revealed elevated levels of triglycerides and total cholesterol. The familial whole genome sequencing revealed a compound heterozygous variation in the LPL gene, with one variation inherited from the father and the other from the mother. The patient was diagnosed with lipoprotein lipase deficiency-related hyperlipoproteinemia. Acute symptoms including bloody stools, fever, and bloody ascites led to the consideration of acute pancreatitis, and the treatment involved fasting, plasma exchange, and whole blood exchange. Following the definitive diagnosis based on the genetic results, the patient was given a low-fat diet and received treatment with fat-soluble vitamins and trace elements, as well as adjustments to the feeding plan. After a 4-week hospitalization, the patient's condition improved and he was discharged. Follow-up showed a decrease in triglycerides and total cholesterol levels. At the age of 1 year, the patient's growth and psychomotor development were normal. This article emphasizes the multidisciplinary diagnosis and treatment of familial hyperlipoproteinemia presenting with symptoms suggestive of acute pancreatitis, including bloody ascites, in the neonatal period.
Humans ; Infant ; Male ; Acute Disease ; Ascites ; Cholesterol ; Hyperlipoproteinemia Type I/genetics* ; Hyperlipoproteinemias ; Lipoprotein Lipase/genetics* ; Pancreatitis ; Triglycerides

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

Glucose and lipid metabolism are linked to each other in many ways. The most important clinical manifestation of this interaction is diabetic dyslipidemia, characterized by elevated triglycerides, low high density lipoprotein cholesterol (HDL-C), and predominance of small-dense LDL particles. However, in the last decade we have learned that the interaction is much more complex. Hypertriglyceridemia and low HDL-C cannot only be the consequence but also the cause of a disturbed glucose metabolism. Furthermore, it is now well established that statins are associated with a small but significant increase in the risk for new onset diabetes. The underlying mechanisms are not completely understood but modulation of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA)-reductase may play a central role as genetic data indicate that mutations resulting in lower HMG CoA-reductase activity are also associated with obesity, higher glucose concentrations and diabetes. Very interestingly, this statin induced increased risk for new onset type 2 diabetes is not detectable in subjects with familial hypercholesterolemia. Furthermore, patients with familial hypercholesterolemia seem to have a lower risk for type 2 diabetes, a phenomenon which seems to be dose-dependent (the higher the low density lipoprotein cholesterol, the lower the risk). Whether there is also an interaction between lipoprotein(a) and diabetes is still a matter of debate.
Cholesterol, HDL ; Cholesterol, LDL ; Diabetes Mellitus ; Dyslipidemias* ; Glucose* ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors ; Hyperlipoproteinemia Type II ; Hyperlipoproteinemias ; Hypertriglyceridemia ; Lipid Metabolism* ; Lipoprotein(a) ; Metabolism ; Obesity ; Triglycerides

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

Primary xanthoma of the bone is a rare benign neoplasm, and it is extremely rare to find this in the ribs. It is most commonly reported in soft tissue and it associated with hyperlipoproteinemia. A 54-years-old male who complained of left chest pain had an X-ray taken. It revealed a left 3rd rib tumor. The blood examinations for lipid and protein were normal. A resection was done for tissue examination. The mass was histolopathologically diagnosed as a xanthoma.
Chest Pain ; Humans ; Hyperlipoproteinemias ; Male ; Ribs ; Thoracic Wall ; Xanthomatosis

Diffuse plane xanthoma (DPX) was first described by Altman and Winkelmann in 1962. Patients with DPX usually exhibit yellow, flat or slightly elevated plaques that gradually develop on the eyelids, neck, upper trunk, and flexures. Histopathologically, histiocytic foamy cells diffusely spread in the upper dermis with an admixture of lymphocytes and histiocytes. This disease may occur with either hyperlipoproteinemic or normolipoproteinemic states. DPX with hyperlipoproteinemia is associated with familial hyperlipidemia or liver cirrhosis. DPX with normolipoproteinemia is often associated with hematological problems such as multiple myeloma, lymphoma, chronic lymphatic leukemia, chronic myeloid leukemia, and chronic myelomonocytic leukemia. We report a case of diffuse plane xanthoma with hyperlipoproteinemia.
Dermis ; Eyelids ; Histiocytes ; Humans ; Hyperlipidemias ; Hyperlipoproteinemias ; Leukemia ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Leukemia, Myelomonocytic, Chronic ; Liver Cirrhosis ; Lymphocytes ; Lymphoma ; Multiple Myeloma ; Neck ; Xanthomatosis

A 55-year-old female presented with extensive yellowish eruptive plaques over both elbows and the buttocks that she had first noticed 2 years earlier. Yellowish orange discoloration of her palmar creases was noted. Her serum cholesterol and triglyceride were markedly elevated. Lipoprotein electrophoresis showed a broad beta band. On apolipoprotein E genotyping, the arginine at position 158 had been replaced by cysteine in both alleles (E2/E2). Under a diagnosis of type III hyperlipoproteinemia, combined atorvastatin and fenofibrate therapy for 2 months normalized the serum cholesterol and triglyceride levels.
Alleles ; Apolipoproteins ; Arginine ; Buttocks ; Cholesterol ; Citrus sinensis ; Cysteine ; Elbow ; Electrophoresis ; Female ; Fenofibrate ; Heptanoic Acids ; Humans ; Hyperlipoproteinemia Type III ; Hyperlipoproteinemias ; Lipoproteins ; Middle Aged ; Pyrroles ; Xanthomatosis ; Atorvastatin Calcium

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

Familial combined hyperlipidemia, otherwise known as type IIb hyperlipoproteinemia or multiple lipoprotein-type hyperlipidemia is an inherited disorder of high serum cholesterol or high blood triglycerides. This disease is genetic and inherited, although the specific defective genes have not been identified. The person's cholesterol or triglyceride become elevated during the teenage years and continue to be high throughout life. The types of elevated lipoproteins may vary between affected family members. Its clinical manifestations include lipid disposition on the skin or tendons called "xanthomas" as well as on the arteries. People with this condition have an increased risk of cardiovascular disease so that it is essential to recognize early this type of disorder. We report a case of a 37 year-old male who presented with a bilateral yellowish to reddish nodules on the elbows, knees, ankles, malleoili, ventral aspect of both hands, fingers, feet and toes, metacarpophalangeal & proximal interphalangeal joints, back and buttocks of six years duration with an elevated levels.

Human ; Male ; Adult ; Ankle ; Arteries ; Buttocks ; Cardiovascular Diseases ; Cholesterol ; Hypercholesterolemia ; Hyperlipidemia, Familial Combined ; Hyperlipoproteinemias ; Lipoproteins ; Tendons ; Toes ; Triglycerides ; Xanthomatosis

BACKGROUND AND OBJECTIVES: Tinnitus is the conscious experience of sound that originates in the head or neck, and without voluntary origin obvious to that person. The aim of this study was to evaluate the prevalence of dyslipoproteinemias and its correlation with subjective tinnitus in the healthy elderly men (especially in men older than 60 years). SUBJECTS AND METHOD: From January 2007 to January 2008, we randomly selected 150 men at our office visit. Of these men, only 102 complained of subjective tinnitus. All men underwent pure tone audiogram, pitch-match and loudness-balance test for tinnitus, simple X-ray (mastoid series), blood sampling such as total cholesterol, LDL cholesterol, HDL cholesterol, triglyceride and lipoprotein(a) etc, and if necessary, temporal bone imaging study, and vestibular function test. Statistical analyses were performed using the SPSS version 15.0, and the p-value was considered significant when less than 5%. RESULTS: The prevalence of hyperlipoproteinemia had no significant difference between the tinnitus group and the control group. Although there was no correlation between loudness (r=0.008, p>0.05) and pitch (r=0.026, p>0.05) for tinnitus with the serum lipoprotein(a) level, the mean value of serum lipoprotein(a) was significantly different between the two groups (p<0.05). CONCLUSION: The high level of serum lipoprotein(a) may have influence on the subjective tinnitus as a risk or aggravation factor in the healthy elderly men.
Aged ; Cholesterol ; Cholesterol, HDL ; Cholesterol, LDL ; Dyslipidemias ; Head ; Humans ; Hyperlipoproteinemias ; Lipoprotein(a) ; Lipoproteins ; Male ; Neck ; Office Visits ; Prevalence ; Temporal Bone ; Tinnitus ; Vestibular Function Tests