Hypoprothrombinemia
Hypoprothrombinemia | |
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Other names | Congenital factor II deficiency[1] |
This condition is inherited in an autosomal recessive manner. | |
Specialty | Hematology |
Hypoprothrombinemia is a rare blood disorder in which a deficiency in immunoreactive
Signs and symptoms
There are various symptoms that are presented and are typically associated to a specific site that they appear at. Hypoprothrombinemia is characterized by a poor blood
The most common symptoms include:
- Easy bruising[2]
- Oral mucosal bleeding - Bleeding of the membrane mucus lining inside of the mouth.
- Soft tissue bleeding.
- Hemarthrosis - Bleeding in joint spaces.
- nasopharynx.
- Women with this deficiency experience menorrhagia: prolonged, abnormal heavy menstrual bleeding.[3]This is typically a symptom of the disorder when severe blood loss occurs.
Other reported symptoms that are related to the condition:
- Prolonged periods of bleeding due to surgery, injury, or post birth.
- Melena - Associated with acute gastrointestinal bleeding, dark black, tarry feces.
- Hematochezia - Lower gastrointestinal bleeding, passage of fresh, bright red blood through the anus secreted in or with stools. If associated with upper gastrointestinal bleeding, suggestive of a more life-threatening issue.
Type I: Severe
Type II: Symptoms are usually more capricious, but can include a variety of the symptoms described previously. Less severe cases of the disorder typically do not involve spontaneous bleeding.[2]
Causes
Hypoprothrombinemia can be the result of a
Inheritance
Autosomal recessive condition in which both parents must carry the recessive gene in order to pass the disease on to offspring. If both parents have the
Non-inheritance and other factors
There are two types of prothrombin deficiencies that occur depending on the mutation:[5]
Type I (true deficiency), includes a missense or nonsense mutation, essentially decreasing prothrombin production. This is associated with bleeding from birth. Here, plasma levels of prothrombin are typically less than 10% of normal levels.[citation needed]
Type II, known as
Acquired underlying causes of this condition include severe liver disease, warfarin overdose, platelet disorders, and disseminated intravascular coagulation (DIC).
It may also be a rare adverse effect to ceftriaxone.[6]
Mechanism
Hypoprothrombinemia is found to present itself as either inherited or acquired, and is a decrease in the synthesis of
The mechanism specific to prothrombin (factor II) includes the proteolytically cleaving, breakdown of proteins into smaller polypeptides or amino acids, of this coagulation factor in order to form thrombin at the beginning of the cascade, leading to stemming of blood loss. A
Areas where the disease has been shown to present itself at include the liver, since the glycoprotein is stored in this area.
Acquired cases are results from an isolated factor II deficiency. Specific cases include:
- coagulation factor consumption involved in the process.[11]
Diagnosis
Diagnosis of inherited hypoprothrombinemia, relies heavily on a patient's medical history, family history of bleeding issues, and lab exams performed by a
Lab tests that are performed to determine diagnosis:
- Factor assays: To observe the performance of specific factors (II) to identify missing/poorly performing factors. These lab tests are typically performed first in order to determine the status of the factor.
- Prothrombin blood test: Determines if a patient has deficient or low levels of Factor II.[citation needed]
- Vitamin K1 test: Performed to evaluate bleeding of unknown causes, nosebleeds, and identified bruising. To accomplish this, a band is wrapped around the patient's arm, 4 inches above the superficial vein site in the elbow pit. The vein is penetrated with the needle and amount of blood required for testing is obtained. Decreased vitamin K levels are suggestive of hypoprothrombinemia. However, this exam is rarely used as a prothrombin blood test is performed beforehand.[13]
Treatment
Treatment is almost always aimed to control
Hypoprothrombinemia can be treated with periodic infusions of purified prothrombin complexes.[14] These are typically used as treatment methods for severe bleeding cases in order to boost clotting ability and increasing levels of vitamin K-dependent coagulation factors.
- A known treatment for hypoprothrombinemia is menadoxime.[15]
- Menatetrenone was also listed as an antihemorrhagic vitamin.
- 4-Amino-2-methyl-1-naphthol (Vitamin K5) is another treatment for hypoprothrombinemia.
- Vitamin K forms are administered orally or intravenously.
- Vitamin K forms are administered orally or
- Other concentrates include Proplex T, Konyne 80, and Bebulin VH.
Fresh frozen plasma infusion (FFP) is a method used for continuous bleeding episodes, every 3–5 weeks for mention.[2]
- Used to treat various conditions related to low blood clotting factors.
- Administered by intravenous injection and typically at a 15-20 ml/kg/dose.
- Can be used to treat acute bleeding.
Invasive options, such as surgery or clotting factor infusions, are required if previous methods do not suffice. Surgery is to be avoided, as it causes significant bleeding in patients with hypoprothrombinemia.
Prognosis
Prognosis for patients varies and is dependent on severity of the condition and how early the treatment is managed.
- With proper treatment and care, most people go on to live a normal and healthy life.
- With more severe cases, a hematologistwill need to be seen throughout the patient's life in order to deal with bleeding and continued risks.
References
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Congenital factor II deficiency". www.orpha.net. Retrieved 5 June 2019.
{{cite web}}
: CS1 maint: numeric names: authors list (link) - ^ a b c "Hypoprothrombinemia Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Retrieved 2017-12-12.
- ^ a b "Factor II Deficiency". DoveMed. Retrieved 2017-12-12.
- PMID 6403077.
- ^ a b c "Hypoprothrombinemia Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Retrieved 2017-12-12.
- ^ [ http://www.gene.com/download/pdf/rocephin_prescribing.pdf Archived 2013-08-16 at the Wayback Machine Rocephin proscribing information]. Accessed October 24, 2013.
- ^ "hypoprothrombinemia | pathology". Encyclopedia Britannica. Retrieved 2017-12-12.
- ^ a b "Hypoprothrombinemia: Background, Pathophysiology, Epidemiology". 2017-03-30.
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: Cite journal requires|journal=
(help) - ^ "ortholog_gene_2147[group] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-12-12.
- ^ a b "nutritional disease - Vitamin K". Encyclopedia Britannica. Retrieved 2017-12-13.
- ^ "Disseminated Intravascular Coagulation (DIC) - Hematology and Oncology - Merck Manuals Professional Edition". Merck Manuals Professional Edition. Retrieved 2017-12-12.
- PMID 6403077.
- ^ "Vitamin K Deficiency". labtestsonline.org. Retrieved 2017-12-12.
- PMID 10499908.
- ^ J. Elks, C. R. Ganellin · DoDs page 765.