To our knowledge, this is the youngest cf patient reported, presenting with severe bleeding diathesis, due to vitamin k deficiency. It typically presents as a large lytic mass at the end of the epiphysis of long bones. Hemorrhagic diathesis and cystic fibrosis in infancy. As universal screening for cf is not undertaken in the uk, asymptomatic cf patients can be missed and a bleeding diathesis may be the presenting symptom. Borowitz d, robinson ka, rosenfeld m, davis sd, sabadosa ka, spear sl, manifestaciones clnicas michel sh, et al. Albinism and lung fibrosis in a young man the first case. It is a genetic condition characterised by albinism, bleeding diathesis and multisystem disorder observed in individuals of particular descents. Cystic fibrosis cf is a disease of exocrine gland dysfunction caused by genetic mutation on chromosome 7, which results in abnormalities in the production andor function of protein called. Four infants, 1 to 4 months of age, with cystic fibrosis, had severe bleeding caused by vitamin k deficiency and hypoprothrombinemia. Viral hemorrhagic fevers include dengue hemorrhagic fever and dengue shock syndrome. Novel genetic variant of hps1 gene in hermanskypudlak.
Coagulation abnormalities in cystic fibrosis diane ai. Although gastrointestinal bleeding was frequently associated with hypoprothrombinemia, gastrointestinal ulceration and hemoptysis due to bronchiectasis were more common than bleeding due to a coagulation defect. Bleeding diathesis due to vitamin k deficiency in an infant with cystic fibrosis article in respiratory medicine cme 33. If the blood is passed through the biliary tree into the gut, hematemesis or passage of melena may also occur, or blood oozing from the ampulla of vater, known as hemobilia, may be seen at endoscopy 1. The hermanskypudlak syndrome hps is an autosomal recessive rare disorder characterized by oculocutaneous albinism, bleeding diathesis, chronic granulomatous colitis andor pulmonary fibrosis. Furthermore, cystic fibrosis has been known to cause bleeding diathesis, especially in undiagnosed infants, due to malabsorption of fat soluble vitamins like vitamin k. Three more xltt families have subsequently been described 47. Management of crms in first 2 years and beyond clinical care guidelines. Although cystic fibrosis cf is a predominantly pediatric genetic disease, the increase in life expectancy and diagnosis in adulthood should be considered. Coagulation abnormalities in cystic fibrosis chest. Fibrosis quistica diagnostico, evaluacion y tratamiento. Pulmonary fibrosis develops in adults with hps1, hps2, and hps4 as well as in children with hps2 2, 15. Vitamin k deficient bleeding in cystic fibrosis archives.
The presenting features may mimic non hemorrhagic acute cholecystitis, with right upper quadrant pain being a dominant feature. Bleeding assessment in female patients with the hermansky. Following investigations, he was diagnosed with hermanskypudlak syndrome hps. Fibrosis quistica genetic and rare diseases information.
A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Clinical manifestations of hps include oculocutaneous albinism, a bleeding diathesis, and colitis 2, 3. Four cases of albinism with haemorrhagic diathesis hermansky pudlak syndrome are presented. Coagulation disorder as a presentation of cystic fibrosis article in journal of emergency medicine 383. Coagulation status of patients with cystic fibrosis was investigated because of the major problems of hemoptysis and gastrointestinal hemorrhage. We report a case of an infant with cf who presented to our hospital with bruising, occult gastrointestinal bleeding, and anemia secondary to vitamin k deficiency. It is uncommon, since vitamin k is given to all newborns in the uk. Hematoma blood tumor hemorrhage with formation of a cavity filled with blood. In this patient, routine intramuscular vitamin k administration at birth failed to prevent vitamin k deficient bleeding diathesis. Oo coagulation status of patients with cystic fibrosis was investigated because of the major problems of hemoptysis and gastrointestinal hemorrhage. Pulmonary fibrosis is a major cause of mortality in adults with hps1. Please use one of the following formats to cite this article in your essay, paper or report. Hemorrhagic cholecystitis radiology reference article.
The median survival and the quality of life of cystic fibrosis patients has increased remarkably in the last decades, changing from a lethal disease to a chronic disease, with a majority of patients in adult age, due to better knowledge of the pathology, precocious diagnosis, and preventive and aggressive management of the respiratory and nutritional complications, realised in specialized and. Giant cell tumor of bone gctb is a benign but locally aggressive bone tumor of young adults. Article pdf available in american journal of respiratory and critical care medicine 1822. Grossly it is comprised of cystic and hemorrhagic areas with little or no periosteal reaction.
Summary the median survival of cystic fibrosis patients has increased remarkably in the last decade, due to precocious and aggressive respiratory and nutritional intervention, and the. The decreased prothrombin activity was attributed to poor dietary intake, malabsorption caused by pancreatic disease, and decreased synthesis following the administration of antibiotics. Medlineplus en espanol tambien contiene enlaces a sitios web no gubernamentales. Autoimmune causes of acquired coagulation disorders.
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