Purpura Fulminans in a Chinese Boy With Congenital Protein C Deficiency

PEDIATRICS ◽  
1986 ◽  
Vol 77 (5) ◽  
pp. 670-676
Author(s):  
Patrick Yuen ◽  
Alfred Cheung ◽  
Hsiang Ju Lin ◽  
Faith Ho ◽  
Jun Mimuro ◽  
...  
Keyword(s):  
Disseminated Intravascular Coagulation ◽  
Protein C ◽  
Purpura Fulminans ◽  
Fresh Frozen Plasma ◽  
Protein C Deficiency ◽  
Intravascular Coagulation ◽  
The Family ◽  
Fresh Frozen ◽  
Frozen Plasma ◽  
Congenital Protein C Deficiency

Severe and recurrent purpura fulminans developed in a Chinese boy at one day of age. Results of coagulation studies performed on the patient during attacks were compatible with the diagnosis of disseminated intravascular coagulation. Subsequent investigations have revealed that the patient is homozygous and that his parents are heterozygous for protein C deficiency. Cryoprecipitate and fresh frozen plasma induced a remission, and administration of warfarin has been successful in preventing recurrence of attacks for as long as 8 months without infusion of any plasma components. None of the family members who are heterozygous for protein C deficiency have had thrombotic episodes.

Purpura fulminans in congenital protein C deficiency successfully treated with fresh frozen plasma and thrombomodulin

2017 ◽  
Vol 45 (6) ◽  
pp. e165-e166
Author(s):  
Takuma Hayami ◽  
Akihiko Yamaguchi ◽  
Takeshi Kato ◽  
Toshihiro Tanaka ◽  
Yuka Nishizawa ◽  
...  
Keyword(s):  
Protein C ◽  
Purpura Fulminans ◽  
Fresh Frozen Plasma ◽  
Protein C Deficiency ◽  
Fresh Frozen ◽  
Frozen Plasma ◽  
Congenital Protein C Deficiency

Homozygous Protein C Deficiency: Observations on the Nature of the Molecular Abnormality and the Effectiveness of Warfarin Therapy

PEDIATRICS ◽  
1988 ◽  
Vol 81 (2) ◽  
pp. 272-276
Author(s):  
Charles Peters ◽  
James F. Casella ◽  
Richard A. Marlar ◽  
Robert R. Montgomery ◽  
William H. Zinkham
Keyword(s):  
Protein C ◽  
Warfarin Therapy ◽  
Purpura Fulminans ◽  
Fresh Frozen Plasma ◽  
Dietary Vitamin ◽  
Medical Attention ◽  
Protein C Deficiency ◽  
Plasma Therapy ◽  
Fresh Frozen ◽  
Frozen Plasma

An infant with severe homozygous protein C deficiency was brought to medical attention because of purpura fulminans and severe bilateral vitreous hemorrhages in the neonatal period. Infusions of fresh frozen plasma were given for 8 months. On two occasions, attempts to decrease the frequency of fresh frozen plasma infusions to less than twice a day led to episodes of microangiopathic hemolysis, fibrinolysis, and acute renal failure. Infarction of skin and subcutaneous tissues did not recur. Both episodes were controlled after reinstitution of fresh frozen plasma. Complications of therapy with fresh frozen plasma included hyperproteinemia and hypertension. Warfarin therapy was instituted when the baby was 8 months of age, followed by a gradual withdrawal of fresh frozen plasma therapy. The dose of warfarin required to maintain the prothrombin time in a range of 1.8 to 2.2 times normal varied considerably during short periods, a phenomenon that may have been due to several factors: hypercatabolism of the drug with prolonged administration, abnormality of liver function, variation in levels of serum albumin, fluctuations in drug dosage secondary to oral administration, and variations in dietary vitamin K. Protein C determinations by immunologic and functional assays consistently showed detectable but reduced protein C antigen levels with undetectable activity levels, suggesting that a dysproteinemia rather than a deficiency of synthesis is responsible for the child's coagulopathy.

NEONATAL HOMOZYGOUS PROTEIN C DEFICIENCY. PROBLEMS IN DIAGNOSIS AND MANAGEMENT

1987 ◽  
Author(s):  
F Civantos ◽  
J Kent ◽  
C H Pegelow
Keyword(s):  
Protein C ◽  
Purpura Fulminans ◽  
Concomitant Administration ◽  
Skin Lesions ◽  
Fresh Frozen Plasma ◽  
Factor Vii ◽  
Functional Assay ◽  
Protein C Deficiency ◽  
Fresh Frozen ◽  
Frozen Plasma

A newborn with a large rapidly necrotizing hematoma in the right buttock had initial coagulation studies suggestive of disseminated intravascular clotting. Negative cultures, development of other ecchymotic lesions in the scalp, eyelid, and elbows and response to fresh frozen plasma allowed the clinical diagnosis of homozygous protein C deficiency that was confirmed by protein C levels of .00 U/ml immunological and .085 U/ml by coagulation assay. Immunologic.protein C assays in the family showed: .41 U/ml in the mother, .38 U/ml in the father, and .55 U/ml in the paternal grandfather with similar functional assay values. CT scans showed thrombosis of dural venous sinuses with bilateral infarcts and possible subarachnoid hemorrhage resulting in rapidly developing hydrocephalus. Cataracts and synechiae developed in both eyes as a result of hemorrhage at birth. Further episodes of thrombosis and hemorrhage were prevented by administration of fresh frozen plasma every 12 hours. Problems ensued with development of hyper-proteinemia, hypercalcemia and hyperphosphatemia. A shunt to control the hydrocephalus became infected as did the catheter for fresh frozen plasma administration. Coumadin administration concurrent with fresh frozen plasma administration was difficult to regulate; phenobarbital given for subclinical status epilepticus interfered with Coumadin. Factor VII assays were used to regulate the concomitant administration of Coumadin and fresh frozen plasma. At 8 months a new episode of purpura fulminans caused the patient's demise. Skin biopsy of the lesions at birth and autopsy sections of new skin lesions showed thrombosis of subcutaneous adipose tissue veins with surrounding hemorrhage. The pathologic and dermatologic findings were identical to those of Coumadin-induced skin necrosis.

Severe Inherited “Homozygous” Protein C Deficiency in a Newborn Infant

1984 ◽  
Vol 52 (01) ◽  
pp. 053-056 ◽  
Author(s):  
A Estellés ◽  
I Garcia-Plaza ◽  
A Dasí ◽  
J Aznar ◽  
M Duart ◽  
...  
Keyword(s):  
Newborn Infant ◽  
Protein C ◽  
Skin Lesions ◽  
Fresh Frozen Plasma ◽  
Clinical Syndrome ◽  
Assay Method ◽  
Enzyme Linked Immunosorbent Assay ◽  
Protein C Deficiency ◽  
Fresh Frozen ◽  
Frozen Plasma

SummaryA relapsing clinical syndrome of skin lesions and disseminated intravascular coagulation (DIC) that showed remission with the infusion of fresh frozen plasma is described in a newborn infant with homozygous deficiency of protein C antigen.This patient presented since birth a recurrent clinical picture of DIC and ecchymotic skin lesions that resembled typical ecchymosis except for the fact that they showed immediate improvement with the administration of fresh frozen plasma. Using an enzyme linked immunosorbent assay method, the determination of protein C antigen levels in the patient, without ingestion of coumarin drugs, showed very low values (<1%).No other deficiencies in the vitamin-K-dependent factors or in anti thrombin III, antiplasmin, and plasminogen were found. Seven relatives of the infant had heterozygous deficiency in protein C antigen (values between 40-55%), without clinical history of venous thrombosis. The pedigree analysis of this family suggests an autosomal recessive pattern of inheritance for the clinical phenotype, although an autosomal dominant pattern has been postulated until now in other reported families.We conclude that our patient has a homozygous deficiency in protein C and this homozygous state may be compatible with survival beyond the neonatal period.

The bleeding patient

2020 ◽  
pp. 403-428
Author(s):  
Anne Craig ◽  
Anthea Hatfield
Keyword(s):  
Blood Transfusion ◽  
Blood Loss ◽  
Disseminated Intravascular Coagulation ◽  
Oxygen Supply ◽  
Fresh Frozen Plasma ◽  
Blood Transfusions ◽  
Massive Blood Transfusion ◽  
Intravascular Coagulation ◽  
Fresh Frozen ◽  
Frozen Plasma

Part one of this chapter tells you about the physiology of blood and oxygen supply, about anaemia and tissue hypoxia, and the physiology of coagulation. Drugs that interfere with clotting are discussed. Bleeding, coagulation, and platelet disorders are covered as well as disseminated intravascular coagulation. Part two is concerned with bleeding in the recovery room: how to cope with rapid blood loss, managing ongoing blood loss, and how to use clotting profiles to guide treatment. There is also a section covering blood transfusion, blood groups and typing. Massive blood transfusion is clearly described, there are guidelines about when to use fresh frozen plasma, when to use platelets, and when to use cryoprecipitate. The final section of the chapter is about problems with blood transfusions.

scholarly journals Pathogenesis, diagnosis, prevention and treatment of disseminated intravascular coagulation syndrome in COVID-19 infection

2020 ◽  
Vol 92 (11) ◽  
pp. 51-56
Author(s):  
P. A. Vorobyev ◽  
A. P. Momot ◽  
L. S. Krasnova ◽  
A. P. Vorobiev ◽  
A. K. Talipov
Keyword(s):  
Disseminated Intravascular Coagulation ◽  
Oral Anticoagulants ◽  
Direct Oral Anticoagulants ◽  
Fresh Frozen Plasma ◽  
Clotting Factors ◽  
Intravascular Coagulation ◽  
Prevention And Treatment ◽  
Fresh Frozen ◽  
Direct Anticoagulants ◽  
Frozen Plasma

Aim. Clinical characteristics of disseminated intravascular coagulation (DIC) in COVID-19 infection and assessment of the effectiveness of complex therapy for this syndrome at the stages of prevention and treatment of various complications. Materials and methods. The study of publications was carried out through search engines on the Internet using keywords. To diagnose the infection, the COVID-19 program was used on the MeDiCase platform, which is publicly available on www.medicase.pro, which suggests a diagnosis with a sensitivity of 89.47%. The study included 85 patients with acute COVID-19 with mild to moderate disease, aged 11 to 81 years. The presence of the pathogen was confirmed immunologically in 12% of patients; in other cases, the diagnosis was based on the results of an automated survey in the MeDiCase system. All patients, according to the MGNOT recommendations, were prescribed one of the oral direct anticoagulants - Eliquis at a dose of 5 mg 2 times a day, Ksarelto at a dose of 10 mg 2 times a day or Pradax at a dose of 110 mg 2 times a day for at least 2 weeks. All other drugs with antiviral, immunomodulatory effects, antibiotics were canceled. Results. The presence of DIC is substantiated by the morphological picture of changes in organs and tissues, clinical (hematoma-petechial type of bleeding in combination with thromboembolic syndrome and the presence of thrombovasculitis) and laboratory changes: an increase in the level of soluble fibrin-monomer complexes, D-dimer, hyperfibrinogenaemia, less often - thrombocytopenia, violation of fibrinolytic activity. The phenomenon of consumption of clotting factors and profuse bleeding are rare. Direct anticoagulants, fresh frozen plasma transfusions and plasmapheresis are used in the treatment of disseminated intravascular coagulation. The paper presents its own positive results of early prescription at the outpatient stage of direct oral anticoagulants in prophylactic doses (no case of disease progression), individual cases of the use of fresh frozen plasma and plasapheresis. Conclusion. DIC syndrome with the development of thrombovasculitis is the most important pathogenetic mechanism for the development of microthrombotic and hemorrhagic disorders in organs during infection with COVID-19, leading to dysfunction of the lungs, brain and other nerve tissues, kidneys, thromboembolic complications, etc. Many symptoms of the disease may be associated with a violation of the nervous regulation of the functions of organs and systems. Prevention of thrombovasculitis is effective already at the stage of the first manifestation of the disease with the outpatient use of direct anticoagulants (oral, low molecular weight heparins). In case of more severe manifestations (complications) of the disease, additional use of freshly frozen plasma and plasmapheresis is effective.

scholarly journals A rare case of protein C mutation causing neonatal purpura fulminans

2021 ◽  
Author(s):  
Abdul Tawab ◽  
Madhu George ◽  
Jino Joseph ◽  
Ann Mary Zacharias
Keyword(s):  
Protein C ◽  
Autosomal Recessive ◽  
Purpura Fulminans ◽  
Rare Condition ◽  
Autosomal Recessive Inheritance ◽  
Fresh Frozen Plasma ◽  
Compound Heterozygous ◽  
Protein C Deficiency ◽  
Fresh Frozen ◽  
Proc Gene

Congenital protein C deficiency presenting as purpura fulminans is a rare condition in neonates. It is a disorder with autosomal recessive inheritance and is caused by homozygous or compound heterozygous mutations in PROC gene. The authors report a case of autosomal homozygous PROC gene transversion mutation in a newborn baby born to third degree consanguineous parents who presented as purpura fulminans at birth. She had almost undetectable protein C levels. As protein C concentrate was not readily available, she was managed with low molecular weight heparin along with fresh frozen plasma. Despite our best efforts, baby succumbed to her illness on day 21 of life.  Autosomal recessive protein C deficiency should always be sought as an explanation for thrombotic disorders in the newborn with manifestations of disseminated intravascular coagulation.

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