2,084 results match your criteria Protein C Deficiency


A Case of Treatment With Dabigatran for Cerebral Venous Thrombosis Caused by Hereditary Protein C Deficiency.

Cureus 2021 Jun 6;13(6):e15473. Epub 2021 Jun 6.

Neurology, Anjo Kosei Hospital, Anjo, JPN.

A 37-year-old woman was admitted to our hospital with involuntary movements. She had no medical or family history of thromboembolism, nor was she on any medication. She showed no impaired consciousness, cranial nerve abnormalities, abnormal breathing, stiff neck or paralysis. Read More

View Article and Full-Text PDF

Two heterozygous mutations associated with type I protein C deficiency in two Chinese independent families.

Blood Coagul Fibrinolysis 2021 Jul 13. Epub 2021 Jul 13.

Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.

To explore the pathogenesis of protein C (PC) deficiency in two independent families by mutations detection and bioinformatics analysis. The PC activity (PC:A) and PC antigen (PC:Ag) were detected by chromogenic substrate and ELISA, respectively. The PROC sequencing was performed to identify the mutational sites. Read More

View Article and Full-Text PDF

Treatment of Growth Hormone Deficiency via Daily Intravascular Injections in a Child with Bleeding Disorder.

Case Rep Endocrinol 2021 17;2021:7865398. Epub 2021 Jun 17.

Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

Objectives: The standard of treatment for pediatric growth hormone deficiency (GHD) is daily subcutaneous recombinant human growth hormone (rhGH) injections. The efficacy of rhGH treatment given as daily intravenous (IV) boluses is not known. . Read More

View Article and Full-Text PDF

An Unusual Occurrence of Protein C Deficiency and Cytomegalovirus Infection in a Case of Purpura Fulminans.

Indian J Dermatol 2021 Mar-Apr;66(2):201-203

Division of Genetics and Metabolism, Department of Pediatrics, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India. E-mail:

View Article and Full-Text PDF

Clinical guidance for peripartum management of patients with hereditary thrombophilia.

J Obstet Gynaecol Res 2021 Jun 24. Epub 2021 Jun 24.

The Study Group for Hereditary Thrombophilia, Research on Blood Coagulation Abnormalities, Research Program on Rare and Intractable Diseases, The Ministry of Health, Labour and Welfare Science Research Grants, Tokyo, Japan.

Hereditary thrombophilia is a condition in which individuals are susceptible to the formation of thrombi due to a hereditary deficiency in anticoagulant factors, antithrombin (AT), protein C (PC), or protein S (PS). Many Japanese thrombophilia patients have PS deficiency, especially PS p.K196E (also called as PS Tokushima), which is exclusive to the Japanese population, and thrombosis sometimes occurs during pregnancy. Read More

View Article and Full-Text PDF

A study of hyperhomocysteinemia in cerebral venous sinus thrombosis.

Indian J Med Res 2020 Dec;152(6):584-594

Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Background & Objectives: Vegetarianism may result in low vitamin B12 and acquired hyperhomocysteinemia leading to thrombotic conditions such as cerebral venous sinus thrombosis (CVST). The clinico-radiological presentation and outcome of patients with hyperhomocysteinemia may be different from those without, but there is a paucity of information. This study was undertaken to find out the relationship of homocysteine (Hcy) with vitamin B12, folic acid and methyltetrahydrofolate reductase (MTHFR) mutation in the patients with CVST, and compare clinico-radiological severity and outcome of patients with and without hyperhomocysteinemia. Read More

View Article and Full-Text PDF
December 2020

Chronic Liver Disease Presenting as Immune Hemolytic Anemia: The Challenges of Diagnosis in the Critically Ill in a Resource-Limited Health Care Setting.

Cureus 2021 May 6;13(5):e14880. Epub 2021 May 6.

Department of Medicine, Lady Hardinge Medical College, Delhi, IND.

Immune hemolytic anemia is very rarely associated with chronic liver disease. Diagnosis is often complicated in critically ill patients, where an etiological diagnosis can be elusive, especially in routine health care settings. A 48-year-old man presented with jaundice for three months. Read More

View Article and Full-Text PDF

Protein C Gene Mutation in an Older Adult Patient with Septicemia-Related Visceral Vein Thrombosis.

TH Open 2021 Apr 26;5(2):e171-e173. Epub 2021 May 26.

Department of Laboratory Medicine, Uji-Tokushukai Medical Center, Uji, Japan.

A 78-year-old Japanese male with septicemia and cholecystitis was found to have thrombosis in the left branch of intrahepatic portal vein as well as superior mesenteric vein. Visceral vein thrombosis (VVT) in this case was associated with protein C deficiency, due to a heterozygous mutation, p. Arg185Met. Read More

View Article and Full-Text PDF

Management of a rare case of extra hepatic portal vein obstruction with temporomandibular joint ankylosis and review of literature.

Ann Hepatobiliary Pancreat Surg 2021 May;25(2):283-286

Department of General Surgery, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Extrahepatic portal venous obstruction (EHPVO) and temporomandibular joint (TMJ) ankylosisis are significant problems in Asian countries. Both EHPVO and bilateral TMJ ankylosis may have rare association due to protein C and S deficiency which may cause hypercoagulability as well as reduced fibrinolytic activity. Ankylosis arising in early childhood is associated with facial asymmetry, feeding difficulty and speech development alterations. Read More

View Article and Full-Text PDF

Maxillofacial and oral surgery in patients with thrombophilia: safe territory for the oral surgeon? A single-center retrospective study.

Oral Surg Oral Med Oral Pathol Oral Radiol 2021 Mar 6. Epub 2021 Mar 6.

Department of Oral and Maxillofacial Surgery, University Hospitals Leuven, Leuven, Belgium.

Objective: The aim of this study was to analyze patients with thrombophilia who underwent oral and/or maxillofacial surgery at our center.

Study Design: We performed a retrospective analysis of patients with hereditary or acquired thrombophilia who had undergone oral/maxillofacial surgery between January 1, 2000 and December 31, 2019. Data regarding demographic and patient characteristics, surgical treatment modalities, antithrombotic therapies, and complications were analyzed. Read More

View Article and Full-Text PDF

Two Consecutive Invasive Surgeries Utilizing Zymogen Protein C (ZPC) That Enhanced Patient Safety and Reduced Costs.

Adv Exp Med Biol 2021 ;1269:45-49

Synthesizer, Inc., Ellicott City, MD, USA.

This case report describes a major surgical procedure for a protein C-deficient, hypercoagulable patient who underwent two back-to-back invasive surgeries, hip replacement, and spinal stenosis correction. The patient, an 84-year-old male with a history of deep vein thromboses (DVT) and pulmonary emboli (PE), was treated pre-, peri-, and postoperatively with zymogen protein C (ZPC-Baxter, International) and recovered without clotting or increased bleeding. During the procedure, the patient was not administered any other anticoagulants. Read More

View Article and Full-Text PDF

Protein C Deficiency in a Patient with Anomalous Hemiazygous Vein and Portal Vein Thrombosis.

West Afr J Med 2021 Apr;38(4):387-390

Department of Medicine, University College Hospital, Ibadan, Oyo State, Nigeria.

Protein C deficiency increases the risk of an individual to develop thromboembolism and its complications. Clinical presentation of the complication of thrombosis in an unusual site may becloud clinical judgment resulting in missed diagnosis. We present an unusual case of protein C deficiency presenting with symptoms referable to the gastrointestinal system. Read More

View Article and Full-Text PDF

Recurrent Fetal Cerebellar Hemorrhage: Think Homozygous Protein C Deficiency.

J Pediatr Hematol Oncol 2021 Apr 26. Epub 2021 Apr 26.

Ultrasound Department, The Sixth Affiliated Hospital of Sun Yat-sen University Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Guangdong, China.

View Article and Full-Text PDF

Multiple arterial and venous thromboembolism in a male patient with hereditary protein C deficiency: A case report.

Medicine (Baltimore) 2021 Apr;100(15):e25575

Department of Vascular Surgery, The Second Xiangya Hospital of Central South University.

Rationale: Hereditary protein C deficiency has a high prevalence in Asian populations, being the important risk factor associated with thrombophilia. Traditionally, conservative medication is the first choice for patients with hereditary protein C deficiency. However, there are few reports on whether aggressive surgical treatment can be performed when patients continue to develop life-threatening ischemic symptoms after adequate anticoagulant and thrombolytic therapy. Read More

View Article and Full-Text PDF

Living donor liver transplantation for small infants aged less than 6 months: The experience of a single institute.

J Pediatr Surg 2021 Jul 24;56(7):1157-1161. Epub 2021 Mar 24.

Division of Transplantation Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, Taiwan.

Purpose: Liver transplantation (LT) for small infants < 6 months old is rare but becoming common as perioperative care improves. In Taiwan, living donor LT (LDLT) has expanded indications but is rarely performed for this age group because of unfavorable outcomes in the literature. We evaluated LDLT outcomes of patients <6 months old. Read More

View Article and Full-Text PDF

[Thrombosis of the inferior vena cava and right atrium in a neonate with thrombophilia: diagnosis, treatment, result].

Angiol Sosud Khir 2021 ;27(1):169-174

Cardiosurgical Department, Research Institute for Complex Problems of Cardiovascular Diseases, Kemerovo, Russia.

Hereditary thrombophilia is rare pathology giving rise to a ninefold increase in the risk for the development of thromboembolism in infants. The problem is multifactorial and characterized by high mortality, especially in neonates. Infants who develop thrombosis, particularly those with no family history, are often subjected to testing for hereditary thrombophilia. Read More

View Article and Full-Text PDF

Pathogenic variants of PROC gene caused type II activity deficiency in a Chinese family: A case report.

Medicine (Baltimore) 2021 Mar;100(12):e25160

Department of Neurology, The First Hospital, Jilin University, Changchun, China.

Rationale: Hereditary Protein C (PC) deficiency is a rare genetic disorder caused by PROC gene mutation. In this article, we report a case of PC deficiency in a Chinese family due to a novel PROC gene mutation.

Study Subject: The proband presented with recurrent cerebral infarction over the course of the previous 3 years. Read More

View Article and Full-Text PDF

Systemic lupus erythematosus combined with primary hyperfibrinolysis and protein C and protein S deficiency: A case report.

World J Clin Cases 2021 Mar;9(8):2008-2014

Department of Hematology, Beijing Hospital, National Center of Gerontology; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China.

Background: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by systemic involvement and multiple autoantibodies in the serum. Patients with protein C (PC) and protein S (PS) deficiency are prone to thrombosis. In contrast, patients with primary hyperfibrino-lysis tend to bleed. Read More

View Article and Full-Text PDF

A Nationwide Analysis of Budd-Chiari Syndrome in the United States.

J Clin Exp Hepatol 2021 Mar-Apr;11(2):181-187. Epub 2020 Aug 15.

Institute of Digestive Health & Liver Diseases, Mercy Medical Center, Baltimore, MD, USA.

Objective: The Budd-Chiari Syndrome (BCS) is a rare disorder characterized by hepatic venous outflow obstruction. The primary objectives of our study were to assess temporal trends in the prevalence of BCS among hospitalized patients in the United States using the National Inpatient Sample (NIS) database and to evaluate demographics, risk factors, and common presentation of BCS.

Methods: Data were extracted from the NIS to identify patients >18 years of age using all listed diagnosis of BCS from 1998 to 2017 and analyzed. Read More

View Article and Full-Text PDF

A pilot study on the impact of congenital thrombophilia in COVID-19.

Eur J Clin Invest 2021 May 25;51(5):e13546. Epub 2021 Mar 25.

Servicio de Hematología y Oncología Médica, Centro Regional de Hemodonación, Hospital Universitario Morales Meseguer, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.

View Article and Full-Text PDF

Liver transplantation for congenital protein C deficiency with initial poor graft function: a case report with literature review.

Int J Hematol 2021 Jul 26;114(1):141-145. Epub 2021 Feb 26.

Organ Transplantation Center, NCCHD, Tokyo, Japan.

Congenital deficiency of protein C (PC) is a rare disease that causes thrombophilia during the neonatal and infantile periods. Despite anticoagulative treatments, purpura fulminans and major vessel thrombosis often occur. We report a 7-year-old girl with congenital PC deficiency who underwent deceased donor liver transplantation (LT) and experienced complications accompanied by initial poor graft function (IPGF). Read More

View Article and Full-Text PDF

Patent Foramen Ovale Closure among Patients with Hypercoagulable States Maintained on Antithrombotic Therapy.

Cardiology 2021;146(3):375-383. Epub 2021 Feb 12.

Department of Family Medicine, Clalit Health Services, Tel-Aviv, Israel.

Background: Percutaneous device closure was shown to effectively prevent recurrent strokes in patients with patent foramen ovale (PFO). Whether this protective effect is relevant for patients with hypercoagulable states (HCSs) is unknown as they were not represented in prior studies.

Methods: Data on 136 consecutive patients with a PFO and clinically significant HCS were retrospectively collected. Read More

View Article and Full-Text PDF
February 2021

Relevance of Inherited Thrombophilia Screening in Adult Kidney Transplant Recipients.

Exp Clin Transplant 2021 Mar 1;19(3):212-216. Epub 2021 Feb 1.

From the Hematology Department, La Rabta Hospital, Tunis, Tunisia.

Objectives: Thrombophilia has been implicated in posttransplant thrombosis. Data concerning the impact of thrombophilia on thrombotic risk in renal graft recipients are inconclusive. We evaluated whether identification of thrombophilia in patients during pretransplant laboratory screening was a predictor of posttransplant outcomes. Read More

View Article and Full-Text PDF

Acute intestinal infarction caused by initially unexplained splanchnic venous thromboses in a patient with protein C deficiency: A thought-provoking emergency case.

Int J Surg Case Rep 2021 Feb 22;79:390-393. Epub 2021 Jan 22.

Department of Surgery, Shiga General Hospital, 5-4-30 Moriyama, Moriyama, Shiga, 524-8524, Japan. Electronic address:

Introduction And Importance: Splanchnic venous thrombosis (SVT) originating in the superior mesenteric vein (SMV) is rare and may cause acute intestinal infarction (AII). Protein C deficiency (PCD) results in thrombophilia.

Presentation Of Case: Acute unexplained SVT originating in the SMV and portal vein was detected in 68-year-old man. Read More

View Article and Full-Text PDF
February 2021

Thrombophilic alterations, migraine, and vascular disease: results from a case-control study.

Neurol Sci 2021 Jan 20. Epub 2021 Jan 20.

Institute of Neurology, Department of Applied Clinical Sciences and Biotechnology, University of L'Aquila, L'Aquila, Italy.

Background: The association between thrombophilic alterations, migraine, and vascular events has been broadly investigated but not been completely clarified.

Methods: In this cross-sectional, case-control study, we included consecutive outpatients diagnosed with migraine referring to a tertiary headache center. Migraine patients were matched to headache-free control subjects. Read More

View Article and Full-Text PDF
January 2021

Epidemiological Characteristics and Etiology of Budd-Chiari Syndrome in Upper Egypt.

J Blood Med 2020 30;11:515-524. Epub 2020 Dec 30.

Department of Internal Medicine, Helwan University, Helwan, Egypt.

Background And Objectives: Budd-Chiari syndrome (BCS) is a rare disorder caused by obstruction to hepatic venous outflow. It affects all races, usually during the third or fourth decade of life. Higher prevalence had being evident in developing countries. Read More

View Article and Full-Text PDF
December 2020

Living Donor Liver Transplant in Patients With Budd-Chiari Syndrome: A Single-Center Experience at Our University Hospital.

Exp Clin Transplant 2020 12;18(7):796-802

From the Hepatology, Gastroenterology, and Hepatobiliary/Transplant Unit Jordan Hospital, Amman, Jordan.

Objectives: Budd-Chiari syndrome is an infrequent, but potentially fatal, hepatic condition with the clinical manifestation of obstructed venous drainage. This may lead to progressive hepatic congestion, portal hypertension, and, ultimately, liver failure. If medical, interventional, and surgical approaches are not effective, liver transplant offers a rescue modality. Read More

View Article and Full-Text PDF
December 2020

Prothrombotic Factors Have Significant Association with Arterial and Venous Strokes in Indian Tamilians.

J Appl Lab Med 2021 Jan;6(1):101-112

Department of Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.

Background: Prothrombotic factors have been correlated with vascular events in young patients, with recurrent strokes, and with venous thromboembolisms. However, their prevalence in adult strokes, in healthy populations, and in specific ethnic groups is not well defined. We investigated the association of prothrombotic factors with strokes in a South Indian Tamil population. Read More

View Article and Full-Text PDF
January 2021

Association between congenital thrombophilia and outcomes in pulmonary embolism patients.

Blood Adv 2020 12;4(23):5958-5965

State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital.

The prevalence and distribution of congenital thrombophilia is still unclear in patients with pulmonary embolism (PE). We aimed to determine the prevalence and clinical characteristics of congenital thrombophilia in PE patients and their subsequent outcomes. A prospective observational study was conducted from May 2013 to June 2018. Read More

View Article and Full-Text PDF
December 2020

Acute subdural haemorrhage complicating cerebral venous thrombosis in a patient with protein C deficiency.

BMJ Case Rep 2020 Nov 30;13(11). Epub 2020 Nov 30.

Neuroradiology, National Neuroscience Institute, Singapore

Cerebral venous thrombosis (CVT) directly causing subdural haemorrhage (SDH) is a rare entity. We present a case of an 18-year-old female patient who presented with severe occipital headache. Neuroimaging showed acute SDH and CVT. Read More

View Article and Full-Text PDF
November 2020