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Hereditary Thrombophilia due to Congenital Protein S Deficiency

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Presentation

  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Protein S is also synthesized in endothelial cells and present in platelets.[pediatric.testcatalog.org]
  • Different C4bBP isoforms are present in plasma, but only C4bBP-beta binds protein S. Congenital protein S deficiency is an autosomal dominant disorder that is present in 2% to 6% of patients with venous thrombosis.[mayomedicallaboratories.com]
  • The present study investigates whether large deletions of PROS1 are found in families where mutations in the PROS1 gene have not been found despite sequencing.[diva-portal.org]
Falling
  • MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.[mybiosource.com]
  • Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.[invitae.com]
  • Protein S levels fall progressively during pregnancy and are reduced to a lesser extent in women using oestrogen-containing oral contraceptives or hormone replacement therapy [ 5 ].[patient.info]
  • Lebensjahr: Schätzung der Inzidenz und Fall-Kontroll-Studie zu Risikofaktoren. DFG-Abschlußbericht 1998;Heft 234/1-1 Fabian-Marx T, Rosenbauer J, Herzig P, Giani G.[esped.uni-duesseldorf.de]
Long Arm
  • Other CMT Type I patients (CMT Type IB) exhibit an abnormality (Duffy locus) in the proximal long arm of chromosome number 1 (band 1q21-22). Presently, no test is available for the dominant CMTIB gene on chromosome 1.[aetna.com]
Purpura
  • Clinical description In severe protein S deficiency, the disease manifests several hours to days after birth, with purpura fulminans (see this term) or massive venous thrombosis.[orpha.net]
  • Diagnosis and management of neonatal purpura fulminans, 2011. Purpura fulminans:recognition, diagnosis and management.[flipper.diff.org]
  • […] and other hemorrhagic conditions D69.0 Allergic purpura D69.1 Qualitative platelet defects D69.2 Other nonthrombocytopenic purpura Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes.[icd10data.com]
  • In severe cases of protein S deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth.[ghr.nlm.nih.gov]
Intracranial Hemorrhage
  • Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage. {ECO:0000269 PubMed:20484936}. Note The disease is caused by mutations affecting the gene represented in this entry.[sinobiological.com]
  • Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage.[mybiosource.com]
  • Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage ( Pung-amritt et al., 1999 ; Fischer et al., 2010 ), whereas others have recurrent thromboses later in childhood ( Comp et al., 1984 ).See[mendelian.co]
Excitement
  • Meticulously updated, this exciting full-color set brings together the pathophysiology of disease with detailed clinical guidance to provide you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children.[books.google.com]
  • These researchers reviewed the physiology of the cardiac calcium homeostasis, including the cardiac excitation contraction coupling and myocyte calcium cycling.[aetna.com]

Workup

  • Thrombotic workup included protein C, protein S, antithrombin (AT), APCR, prothrombin mutation, lupus anticoagulant (LA), and anticardiolipin (ACL). Functional assays were carried out in 179 patients.[cags.org.ae]
  • Clinical Testing and Workup Doctors will run blood tests that will determine the activity of protein C in the blood. These tests are called assays and they measure the amount and activity of specific enzymes in the blood.[rarediseases.org]
  • Physicians should also verify that available laboratory workups were appropriately performed and interpreted.[nature.com]
  • Both the Kleihauer-Betke and CA-125 tests are of little clinical value in the workup of patients with placental abruption. 111, 112 Patients with placenta previa often present with a clinical picture similar to abruption.[glowm.com]
Hyperviscosity
  • […] and the approach to anemia -- Anemia of prematurity and indications for erythropoietin therapy -- Hypoplastic anemia -- Hemolytic disease of the fetus and newborn -- Neonatal hemolysis -- Neonatal screening for hemoglobinopathies -- Polycythemia and hyperviscosity[books.google.com]
  • The development of ligneous conjunctivitis, hyperviscosity of tracheobronchial and nasopharyngeal secretions, impaired wound healing, and hydrocephalus soon after birth have been reported in a German patient with homozygous plasminogen deficiency [ 93[thrombosisjournal.biomedcentral.com]

Treatment

  • Management and treatment Administration of fresh frozen plasma may be required for the initial treatment of neonatal purpura fulminans. Surgical procedures may be required for excision of thrombotic lesions.[orpha.net]
  • Share your finds with others. 0 0 Discussions: 0 Messages: 0 TREATMENTS Drugs, supplements, therapies and treatments based on scientific studies. 0 0 Discussions: 0 Messages: 0 Discussions: 0 Messages: 0 SYMPTOMS Hereditary Thrombophilia due to Congenital[diseasemaps.org]
  • Form a definitive diagnosis and create the best treatment plans possible with comprehensive coverage of all pediatric cancers, including less-common tumors, as well as all hematologic disorders, including newly recognized ones.[books.google.com]
  • They usually form after damage to veins or arteries and often resolve without treatment after the wound has healed. The formation of a blood clot is called coagulation.[medicalnewstoday.com]

Prognosis

  • Prognosis Prognosis is severe in homozygous or compound heterozygous patients. Prognosis is good for heterozygous patients. With adequate treatment and monitoring, the risk of thromboembolic disease is markedly reduced.[orpha.net]
  • The prognosis therefore depends on early diagnosis, effective measures to prevent thrombosis and effective management of any thrombosis that does occur.[patient.info]
  • In case of the acquired Protein S deficiency, the prognosis will depend on how cruel the underlying cause is.[inrtracker.com]
  • Other tests that may be done include: * Bleeding time * Partial thromboplastin time * Prothrombin time * Thrombin time Prognosis - Protein S deficiency The outcome is usually good with treatment, but symptoms may return.[checkorphan.org]

Etiology

  • Etiology Protein S deficiency is caused by mutations in the PROS1 gene (3q11-q11.2). Diagnostic methods Diagnosis is based on the measurement of protein S antigen levels (total protein S or free protein S) and anticoagulant activity.[orpha.net]
  • The etiology and risk factors that are associated with recurrent abruptions are unknown.[glowm.com]
  • Etiology of neonatal purpura fulminans Purpura fulminans was first described in a neonate in 1962 and the etiology was presumed an inherited disorder as three siblings had similar skin lesions.[flipper.diff.org]
  • […] affected: cardiovascular; hematologic/immunologic; pulmonary Epidemiology Incidence Mean age of first thrombosis: 2nd decade Predominant sex: male female Prevalence 0.2% of general population Found in 1% of persons with venous thrombosis embolism (VTE) Etiology[unboundmedicine.com]

Epidemiology

  • Summary Epidemiology Prevalence of partial protein S deficiency (heterozygous individuals) is estimated at 0.16-0.21% in the general population.[orpha.net]
  • Protein C Deficiency (2013): A comprehensive discussion of Protein C, including pathophysiology, epidemiology, clinical presentation, diagnosis and treatment.[stoptheclot.org]
  • […] recurrent (pro-S deficiency),types I with reduced level of antigen and activity,type II with normal antigen level,reduced activity but excluding most cases of type III Relevant External Links for PROS1 Genetic Association Database (GAD) PROS1 Human Genome Epidemiology[genecards.org]
  • System(s) affected: cardiovascular; hematologic/immunologic; pulmonary Epidemiology Incidence Mean age of first thrombosis: 2nd decade Predominant sex: male female Prevalence 0.2% of general population Found in 1% of persons with venous thrombosis embolism[unboundmedicine.com]
Sex distribution
Age distribution

Pathophysiology

  • Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children.[books.google.com]
  • Protein C Deficiency (2013): A comprehensive discussion of Protein C, including pathophysiology, epidemiology, clinical presentation, diagnosis and treatment.[stoptheclot.org]
  • […] cardiovascular; hematologic/immunologic; pulmonary Epidemiology Incidence Mean age of first thrombosis: 2nd decade Predominant sex: male female Prevalence 0.2% of general population Found in 1% of persons with venous thrombosis embolism (VTE) Etiology and Pathophysiology[unboundmedicine.com]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Protein S is a vitamin K-dependent plasma glycoprotein and a part of the natural anticoagulant system.[proteinsdeficiency.com]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Protein S is a vitamin K-dependent glycoprotein present in platelets and synthesized within the liver and endothelial cells.[mayomedicallaboratories.com]

Prevention

  • Preventive treatment is indicated in cases with strong positive family history of thrombotic diseases, during the peripartum period or perioperatively. Prognosis Prognosis is severe in homozygous or compound heterozygous patients.[orpha.net]
  • Prevention If your provider diagnoses you with this disorder, you should be careful to prevent clots from forming. This can occur when the blood moves slowly in the veins, such as from prolonged bed rest during an illness, surgery, or hospital stay.[nicklauschildrens.org]
  • Prevention - Protein S deficiency If your health care provider diagnoses you with this disorder, you should be careful to prevent clots from forming.[checkorphan.org]
  • Blood-thinning drugs are used to treat and prevent blood clots. The outcome is usually good with treatment, but symptoms may return, especially if blood-thinning agents are stopped.[medlineplus.gov]

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