Case report of one month and 15 days old baby with type V hyperlipoproteinemia (HLP)

We report the case of an adult patient with thumb polydactyly. The pre-axial thumb is in a non-functional flexion, while the 1st thumb maintains normal function. X-ray of the hand reveals a “T” shape 1st metacarpus bone, giving origin to the pre-axial polydactyly. Although this variation is not specifically described in the Wassel classification, we classify it as a type V of the Rotterdam´s classification. Patient is managed surgically, using a dynamic incision for polydactyly amputation. The polydactyly thumb has no identifiable muscle/tendon structures responsible of this unique deformation. The procedure results in good post-operative evolution with aesthetic scaring, and integral thumb function.

Download Full-text

Eruptive Xanthomas Caused by Primary Type V Hyperlipoproteinemia

Internal Medicine ◽

10.2169/internalmedicine.8142-21 ◽

2022 ◽

Author(s):

Yoshihiro Nakamura ◽

Tsuyoshi Watanabe ◽

Naoho Takizawa ◽

Yoshiro Fujita

Keyword(s):

Eruptive Xanthomas ◽

Type V Hyperlipoproteinemia ◽

Primary Type ◽

Type V

Download Full-text

The Clinical, Biochemical, and Familial Presentation of Type V Hyperlipoproteinemia in Childhood

PEDIATRICS ◽

10.1542/peds.59.4.513 ◽

1977 ◽

Vol 59 (4) ◽

pp. 513-525

Author(s):

Peter O. Kwiterovich ◽

J. Ramsay Farah ◽

W. Virgil Brown ◽

Paul S. Bachorik ◽

Stephen B. Baylin ◽

...

Keyword(s):

Insulin Level ◽

Recurrent Abdominal Pain ◽

Enzymatic Activities ◽

Type I ◽

Rare Type ◽

Type Iv ◽

Type V Hyperlipoproteinemia ◽

Therapeutic Diets ◽

Primary Type ◽

Type V

Primary type V hyperlipoproteinemia was identified in two preadolescent children. The propositus (kindred N) was a 10-year-old girl with severely creamy plasma, lipemia retinalis, hypertriglyceridemia (triglyceride level, 6,800 mg/100 ml), and hypercholesterolemia (cholesterol level, 490 mg/100 ml). Her parents and an 8-year-old sister all had endogenous hypertriglyceridemia (type IV hyperlipoproteinemia). In kindred A, an 11-year-old boy had triglyceride levels as high as 1,100 mg/100 ml and recurrent abdominal pain. His father had type V hyperlipoproteinemia; his mother was normal. All three of his older teenage siblings had type IV hyperlipoproteinemia. The enzymatic activities of lipoprotein lipase (LPL), hepatic triglyceride lipase (HTL), and histaminase (H) were studied in postheparin plasma. The LPL level was low in the children and both parents in kindred N. LPL level in kindred A was normal, except for one child with type IV hyperlipoproteinemia. HTL level was normal to above normal in both kindreds. Most patients had a normal H level, but one parent (kindred N) had no preheparin H and very low levels of postheparin H. There was a strong correlation (r = 0.58, significant at < 1% level) between the release of LPL and H but not between HTL and H (r = 0.22). The mean (± 1 S.D.) levels of the enzymes were as follows: LPL, 2.8 ± 0.7 µmol/ml/hr in kindred N and 5.4 ± 2.2 µmol/ml/hr in kindred A; H, 13.4 ± 6.8 units/ml in kindred N and 22.0 ± 11.9 units/ml in kindred A; and HTL, 18.0 ± 7.1 µmol/ml/hr in kindred N and 14.9 ± 6.3 µmol/ml/hr in kindred A. The enzymatic activities of kindreds N and A were significantly different for LPL (P < .001) and H (.025 < P < .05) but not for HTL. All but one child had at least one high insulin level, which was accompanied by hyperglycemia in two children. The hypertriglyceridemia in all but one child was ameliorated on therapeutic diets. These data suggest that the genetic basis of the hypertriglyceridemia in these two families is different and that hyperchylomicronemia in childhood is not confined to the rare type I hyperlipoproteinemia.

Download Full-text

Sequential imaging of hyperplastic callus formation in Osteogenesis Imperfecta type V: A case report and review of the literature

Journal of Orthopaedic Science ◽

10.1016/j.jos.2021.04.009 ◽

2021 ◽

Author(s):

David Yung ◽

Manabu Arai ◽

Shunsuke Matsumoto ◽

Takeshi Sato ◽

Toru Hirozane ◽

...

Keyword(s):

Case Report ◽

Osteogenesis Imperfecta ◽

Callus Formation ◽

Osteogenesis Imperfecta Type ◽

Review Of The Literature ◽

Type V ◽

Hyperplastic Callus Formation ◽

Hyperplastic Callus

Download Full-text

Distribution of cyclosporine in blood of a renal-transplant recipient with type V hyperlipoproteinemia.

Clinical Chemistry ◽

10.1093/clinchem/33.3.423 ◽

1987 ◽

Vol 33 (3) ◽

pp. 423-428 ◽

Cited By ~ 16

Author(s):

H L Verrill ◽

R E Girgis ◽

R E Easterling ◽

B S Malhi ◽

W F Mueller

Keyword(s):

Renal Transplant ◽

Plasma Lipids ◽

Kidney Tissue ◽

Therapeutic Drug ◽

Type V Hyperlipoproteinemia ◽

High Concentrations ◽

Stage Renal Disease ◽

End Stage ◽

Type V ◽

Severe Type

Abstract A patient with severe type V hyperlipoproteinemia and chronic end-stage renal disease received a renal transplant and therapy with cyclosporine. Concentrations of the drug in plasma as determined by liquid chromatography appeared extraordinarily high for the dose ingested. When we measured the drug in the plasma, plasma cleared by ultracentrifugation, leukocytes, erythrocytes, and whole blood, we found that the high concentrations of cyclosporine were associated with the chylomicrons that always were present in this patient's blood. Cyclosporine added directly to this patient's plasma was less associated with the plasma lipids. Isolated lymphocytes and kidney slices incubated with plasma from this patient bound no more drug than when incubated with nonhyperlipemic plasma containing cyclosporine at a normal therapeutic concentration. We conclude that the cyclosporine associated with the chylomicrons in this patient was not biologically available to either lymphocytes or kidney tissue. We strongly recommend the use of chylomicron-cleared plasma for therapeutic drug monitoring of cyclosporine in type V hyperlipoproteinemic patients.

Download Full-text