An Unusual Presentation of Hemorrhagic Disease in an Infant: A Probable Case of Abetalipoproteinemia.

We report a probable case of abetalipoproteinemia in an infant who presented with unusual symptoms of late-onset vitamin K deficiency. Abetalipoproteinemia is a rare autosomal recessive disease caused by mutation of the microsomal triglyceride transfer protein gene, resulting in the absence of microsomal triglyceride transfer protein function in the small bowel. It is characterized by the absence of plasma apolipoprotein B-containing lipoproteins, fat malabsorption, hypocholesterolemia, retinitis pigmentosa, progressive neuropathy, myopathy, and acanthocytosis. A biopsy of the small intestine characteristically shows marked lipid accumulation in the villi of enterocytes. Large supplements of fat-soluble vitamins A, D, E, and K have been shown to limit neurologic and ocular manifestations. Dietary fat intake is limited to medium-chain triglycerides.

Rise in late onset vitamin K deficiency bleeding in young infants because of omission or refusal of prophylaxis at birth.

BACKGROUND: Newborns are at risk for vitamin K deficiency and subsequent bleeding unless supplemented at birth. Vitamin K deficiency bleeding is an acquired coagulopathy in newborn infants because of accumulation of inactive vitamin K-dependent coagulation factors, which leads to an increased bleeding tendency. Supplementation of vitamin K at birth has been recommended in the United States since 1961 and successfully reduced the risk of major bleeding. Refusal or omission of vitamin K prophylaxis is increasing and puts newborn infants at risk for life-threatening bleeding. PATIENTS: Over an eight month period, we encountered seven infants with confirmed vitamin K deficiency; five of these patients developed vitamin K deficiency bleeding. RESULTS: The mean age of the seven infants with vitamin K deficiency was 10.3 weeks (range, 7-20 weeks); manifestations ranged from overt bleeding to vomiting, poor feeding, and lethargy. None of the infants had received vitamin K at birth, and all were found to have profound derangement of coagulation parameters, which corrected rapidly with administration of vitamin K in IV or intramuscular form. Four of the seven infants had intracranial hemorrhage; two of these infants required urgent neurosurgical intervention. CONCLUSION: Supplementation of vitamin K at birth for all newborns prevents major hemorrhagic complications, such as intracranial bleeding, due to vitamin K deficiency. Parental refusal of vitamin K is increasingly common. It is critical that health care providers and the public be made aware of the varied presentation of this preventable acquired coagulopathy.

Association of vitamin K status with adiponectin and body composition in healthy subjects: uncarboxylated osteocalcin is not associated with fat mass and body weight.

Osteocalcin (OC) is a vitamin K-dependent protein found in bone and in circulation. High serum γ-carboxylated OC reflects a high, and high uncarboxylated OC (ucOC) reflects a low vitamin K status. A revolutionary hypothesis is that ucOC acts as a hormone improving glucose handling and reducing fat mass. The objective was to test the logical extrapolation of the ucOC hormone hypothesis to humans that elevated ucOC is associated with higher body weight, BMI and fat mass. In a cross-sectional analysis, the associations of vitamin K status with circulating adiponectin and body composition were investigated in 244 postmenopausal women (study I). The effects of vitamin K treatment on adiponectin, body weight and BMI were investigated in archived samples from forty-two young men and women who received varying doses of menaquinone-7 during 12 weeks (study II) and from a cohort of 164 postmenopausal women who participated in a 3-year placebo-controlled trial on 45 mg menaquinone-4 (MK-4) (study III). No association was found between vitamin K status and circulating adiponectin before or after vitamin K supplementation. A higher carboxylation of OC was significantly correlated with lower body weight, BMI and fat mass of the trunk. Women taking MK-4 maintained their baseline body weight and BMI, whereas women taking placebo showed significant increases in both indices. These findings demonstrate that a high vitamin K status of bone has no effect on circulating adiponectin in healthy people and long-term vitamin K supplementation does not increase weight in healthy postmenopausal women.

Vitamin K deficiency inhibits mineralization and enhances deformity in vertebrae of haddock (Melanogrammus aeglefinus L.).

Vitamin K has been known to regulate bone formation through osteocalcin synthesis by osteoblasts, which is important for mineralization and bone structure. The mechanism underlying the relationship of vitamin K with the changes of microanatomy is not fully understood, and our goal is to test whether bone deformities develop in association with vitamin K deficiency. Fish were fed a semi-purified diet containing either devoid (0.00 mg/kg diet) or adequate (40.0 mg/kg diet supplemented but 20.8 mg/kg analyzed) levels of vitamin K (menadione sodium bisulphite) for 20 weeks. At the end of 8 and 20 weeks, fish were subjected to gross examination and X-ray, and mineral content of the vertebrae was measured. The vertebrae were also subjected to histological, histomorphometric and enzyme histochemical examinations to determine the bone formation and resorption. Vitamin K deficiency primarily decreased bone mineralization and subsequently a decrease in bone mass thus resulted in an increased susceptibility to bone deformity. The occurrence of bone deformities coincided with an increased amount of osteoid tissue and decreased bone mineral content. Number of osteoblasts and osteoclasts were not affected by dietary vitamin K. In conclusion, vitamin K deficiency can impair bone mineralization and enhances bone deformities.

Vitamin K deficiency in severely disabled children.

Vitamin K status was examined in 21 severely disabled children in our hospital from September 2001 to August 2002, and 9 children were found to have a vitamin K deficiency. The 21 patients were divided into two groups: group A, 9 patients with vitamin K deficiency, and group B, 12 patients without vitamin K deficiency. The laboratory data and background factors in the two groups were compared statistically. In group A, all patients received enteral nutrition and anticonvulsants. The protein induced by vitamin K absence-II values were elevated in eight patients. Seven exhibited a bleeding tendency. Six developed vitamin K deficiency in association with infection and four were treated with antibiotics. All showed a good response to the administration of vitamin K. The patients in group A had factors such as use of antibiotics, infection, and elemental nutrition at significantly higher rates than those in group B. Data indicating nutrition factors such as body weight, caloric intake, total protein level, and hemoglobin level were not significantly different between the two groups. Severely disabled children suffer from deficiencies of various nutritional elements. However, vitamin K deficiency in severely disabled children has not been fully investigated. Infection, use of antibiotics, and elemental nutrition are risk factors for vitamin K deficiency in severely disabled children. In severely disabled children, there might be marginal vitamin K intake via enteral nutrition, so more vitamin K supplementation is necessary, especially with infection and use of antibiotics.

Avitaminosis K and the lack of heart lesions in poultry.

Poultry susceptibility to avitaminosis K-induced granulomatous endocardial lesions was studied in broiler and layer chicks. They were fed either a practical corn-soybean meal diet with and without added vitamin K (vit K), or a 61% raw sugar-isolated soybean protein diet (RS-IS) with no added vit K for 10 weeks. Heart lesions were not found in birds fed any of the experimental diets. Mortality, body weight gain, and prothrombin time did not differ significantly between birds fed the practical diet regardless of vit K supplementation. In contrast, the RS-IS diet significantly increased mortality, prothrombin time, and markedly decreased growth. Furthermore, more than a third of the birds fed the high sugar diet had subcutaneous edema, which resembled exudative diathesis. Compared with swine, poultry are apparently less susceptible to granulomatous endocardial lesions induced by a vit K deficiency.