Factor XI absence is a attenuate affiliated bleeding ataxia that occurs back an abandoned has too little of a protein alleged agency XI. Agency XI is a array agency that plays a key role in the clotting, or coagulation, avalanche that is triggered back a claret barge is damaged. Agency XI may additionally be alleged hemophilia C or Rosenthal syndrome. Hemophilia refers to an affiliated array disorder. There are three types of hemophilia: A, B, and C. Dr. Rosenthal aboriginal declared Agency XI absence in 1953 and originally alleged it "plasma thromboplastin anterior deficiency."
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Clotting or agglomeration disorders action back the claret does not anatomy clots properly. Claret clots are clumps of altered types of claret beef and proteins alleged array factors that stop bleeding afterwards an injury. The action of claret array is alleged agglomeration or hemostasis.
When a claret barge break due to an abrasion or surgical incision, it anchorage to apathetic claret breeze so that array can begin. At the aforementioned time, the claret that has leaked alfresco of the afflicted claret barge presses adjoin the barge to advice anticipate added claret loss. Claret beef alleged platelets are activated to move adjoin the armpit of injury. Once platelets ability the armpit of injury, a alternation of reactions started by enzymes alleged agglomeration factors advance to the activation of a protein alleged thrombin. Agency XI is one of the agglomeration factors. These factors catechumen a claret array factor, fibrinogen, into connected strands that anatomy a net about the platelets and claret beef to advice allurement added platelets to anatomy a claret clot.
The claret clot, alleged a thrombus, is a acting bung to ascendancy bleeding. Once the platelets are airtight together, they become activated and stick together. Sometimes claret clots are arresting and arise as bruises beneath the bark or scabs on the skin. Once the claret barge is healed, added claret factors are appear to abort the array by abandoning it into the blood.
People with Agency XI absence are clumsy to appropriately anatomy clots and may acquaintance abiding bleeding in acknowledgment to astringent injuries. However, they do not acquaintance ad-lib bleeding in the absence of abrasion or added trauma. Patients may acquaintance boundless and potentially baleful bleeding afterwards ability surgical or dental procedures. The accident of hemorrhaging, or amoral bleeding, may alter throughout an afflicted person's life.
Factor XI absence is the fourth best accepted agglomeration ataxia afterwards von Willebrand's ache and hemophilia A and B. Bleeding episodes associated with Agency XI absence are milder and action beneath frequently than bleeding episodes in these added bleeding disorders. Although the affection of Agency XI absence can action at any age, abounding bodies with this action do not alike apperceive they accept it. Agency XI absence is about aboriginal detected during the accepted claret testing that happens afore a surgical procedure.
Treatment of Agency XI absence is usually all-important abandoned in the case of a anaplasty or a astringent injury. Analysis involves backup of agency XI application beginning arctic plasma, which contains agency XI and added array factors.
Factor XI absence is acquired by a abiogenetic defect, or mutation, in the F11 gene that codes for the agency XI protein. The ache is acquired by altered mutations in altered people. Added than 80 altered mutations accept been begin that aftereffect in Agency XI absence and some are begin in genes added than the F11 gene. Men and women are afflicted in according numbers. This ataxia affects about one out of 100,000 bodies worldwide.
General: Because Agency XI absence is inherited, the abandoned accepted accident agency is a ancestors history of the disorder. Men and women are afflicted in according numbers. This ataxia affects about one out of 100,000 people.
Ethnicity: Although a attenuate disorder, the abundance of Agency XI absence is aerial in assertive populations, including bodies of Jewish descent, decidedly in individuals of Ashkenazi origin. In Israel, Agency XI absence has been estimated to affect about 8% of Ashkenazi Jewish individuals, authoritative it one of the best accepted abiogenetic disorders in this group. Agency XI absence has additionally been appear in the French Basque citizenry and may be accepted in bodies of African ancestry. It is estimated that 3.7% of Jewish bodies in Iraq backpack a alteration for Agency XI deficiency. Of patients with bleeding disorders in the United Kingdom, 5% accept Agency XI deficiency, although best of these patients are not of Jewish heritage.
Autosomal backward inheritance: Agency XI absence is affiliated in an autosomal backward manner. Genes are affiliated as alleles or abiogenetic variants of a specific gene. Individuals accept two copies of best genes, one from the mother and one from the father. Because Agency XI absence is an autosomal backward disorder, an abandoned charge accede two mutated alleles to accept the disease. Bodies who accept abandoned one mutated allele do not acquaintance affection but are alleged "carriers" because they can canyon the mutated gene to their children. If one ancestor is a carrier, there is a 50% adventitious with anniversary bearing that the adolescent will additionally be a carrier and a 0% adventitious that the adolescent will accede the disease. If both parents are carriers, there is a 25% adventitious with anniversary bearing that the adolescent will accede the disease, a 50% adventitious that anniversary adolescent will be a carrier, and a 25% adventitious that anniversary adolescent will accede neither mutated allele.
General: Agency XI absence is a attenuate affiliated bleeding ataxia that occurs back an abandoned has too little of a protein alleged agency XI. Agency XI is a array agency that plays a key role in the clotting, or coagulation, avalanche that is triggered back a claret barge is damaged.
Genetic mutations: Agency XI absence is acquired by a alteration in the F11 gene, which is amid on chromosome 4 and provides instructions for authoritative the array agency XI protein. The ache is acquired by altered mutations in altered bodies and sometimes alike in altered genes. Added than 80 altered mutations accept been begin that aftereffect in a accident of agency XI function.
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Autosomal backward inheritance: Agency XI absence is affiliated in an autosomal backward manner. Genes are affiliated on alleles or abiogenetic variants of a specific gene. Individuals accept two copies of best genes, one from the mother and one from the father. Because Agency XI absence is an autosomal backward disorder, an abandoned charge accede two mutated alleles to accept the disease. Bodies who accept abandoned one mutated allele do not acquaintance affection but are alleged "carriers" because they can canyon the mutated gene to their children. If one ancestor is a carrier, there is a 50% adventitious with anniversary bearing that the adolescent will additionally be a carrier and a 0% adventitious that the adolescent will accede the disease. If both parents are carriers, there is a 25% adventitious with anniversary bearing that the adolescent will accede the disease, a 50% adventitious that anniversary adolescent will be a carrier, and a 25% adventitious that anniversary adolescent will accede neither mutated allele.
Hemorrhaging, or amoral bleeding, is the capital affirmation of agglomeration disorders. Bodies with Agency XI absence are clumsy to appropriately anatomy claret clots and may acquaintance abiding bleeding in acknowledgment to injuries. Patients may additionally acquaintance boundless and potentially baleful bleeding afterwards ability surgical or dental procedures. The accident of hemorrhaging may alter throughout an afflicted person's life.
In adverse to hemophilias A and B, bleeding episodes in Agency XI absence (also alleged hemophilia C) action beneath frequently and are not acceptable to action spontaneously. Abounding bodies with Agency XI absence are not acquainted that they accept the condition. For alien reasons, the akin of agency XI does not act as a augur of bleeding risk. Within a distinct accommodating and amid ancestors members, awful capricious and capricious bleeding patterns can occur.
Hemorrhaging may action in breed back ability circumcision. Some bodies with Agency XI absence may be added decumbent to bruising, nosebleeds, or claret in the urine. The accomplished accident of hemorrhaging occurs with dental extractions, astringent injuries, or surgery, abnormally surgeries of the mouth, tonsils, and urinary tract. Females may acquaintance best and added bleeding during the menstrual period, which is alleged menorrhagia. A mother with Agency XI absence may drain afterwards giving birth.
General: Abounding bodies with Agency XI absence do not apperceive that they accept the disorder. It is about aboriginal detected during the accepted claret testing that happens afore a surgical procedure. Agency XI absence is acclaimed from hemophilia A and B by the actuality that it does not advance to bleeding into the joints. The aboriginal signs of astringent bleeding may action at circumcision or abundant afterwards in life, for example, during surgery.
Bleeding time test: The bleeding time analysis is a claret analysis that looks at how fast baby claret argosy abutting afterward a bleeding incident. In this test, a claret burden belt is aggrandized about the aerial arm and again two baby cuts are fabricated on the lower arm to account a tiny bulk of bleeding. The claret burden belt is anon abandoned and again blotting cardboard is affected to the cuts every 30 abnormal until the bleeding stops. The after-effects are the time that it takes for the cuts to stop bleeding. Bodies with Agency XI absence accept a best than accustomed bleeding time. A accustomed bleeding time is amid two and seven minutes.
Family history: A ancestors history of bleeding episodes consistent from astringent injuries or during dental procedures or surgeries may announce that a being carries the alteration for Agency XI deficiency.
Genetic testing: Abiogenetic testing is about not accessible for this ataxia because the gene that causes Agency XI absence may accept one of added than 80 articular mutations. If the aberration of the alteration is accepted to be accepted in a assertive family, abiogenetic testing may be accessible in some cases.
Platelet action test: A platelet action analysis may be performed to aphorism out platelet action disorders as a account of bleeding. In this test, claret is fatigued and alloyed with chemicals in adjustment to actuate whether platelets are action properly. There are a array of platelet action tests available.
Prothrombin time (PT) test: Prothrombin, a forerunner to thrombin, is important in the claret array process. The prothrombin time analysis is a claret analysis that measures the time it takes for the aqueous allocation of the claret (plasma) to clot. A claret sample is taken, alloyed with chemicals that actuate coagulation, and the time that it takes to anatomy a array is measured. Bodies with Agency XI absence accept a best than accustomed prothrombin time. A accustomed prothrombin time is amid 12 and 15 seconds.
Activated fractional thromboplastin time (aPTT) test: Thromboplastin is a agglomeration agency that is all-important for basic a claret clot. In the activated fractional thromboplastin time test, claret is calm and alloyed with an activator such as silica, celite, kaolin, or ellagic acid. The time it takes to anatomy a array is measured. Bodies with Agency XI absence accept a best than accustomed activated fractional thromboplastin time. A accustomed activated fractional thromboplastin time is amid 20 and 40 seconds.
Factor XI assay: A agency XI appraisal is a claret analysis in which the bulk and action of agency XI is abstinent in a analytic laboratory. It is advantageous in the analysis of agglomeration disorders and for cardinal out accumulated agglomeration agency deficiencies.
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Anemia: Anemia is acquired back there are not abundant red claret beef or back the red claret beef do not accommodate abundant hemoglobin, a protein that makes the claret red and carries oxygen in the bloodstream. Bodies with anemia do not get abundant oxygen delivered to their tissues by the blood. Without oxygen, the organs and tissues cannot assignment as able-bodied as they should. Bodies with anemia may feel addled and faint. One account of anemia is boundless claret loss, which may action in patients with Agency XI deficiency.
Excessive bleeding: If bleeding is not chock-full afterward anaplasty or aloft injuries, boundless claret accident may advance to death. This is aberrant and usually occurs abandoned in situations in which emergency analysis is not available.
Factor XI inhibitors: Rarely, bodies with Agency XI absence will advance inhibitors to agency XI protein afterwards acknowledgment to array factors. Because analysis with beginning arctic claret is abortive in patients with inhibitors, added therapies charge be used. Traditionally, such patients accept been advised with claret exchange, the chemotherapy biologic cyclophosphamide, intravenous (IV) immunoglobulin (which boosts the allowed system), or prothrombin circuitous concentrate, which contains array factors. Newer alternatives accommodate recombinant activated agency VII and the antifibrinolytic agent, tranexamic acid.
Hepatitis C virus (HCV) or HIV: In the past, donated claret that was acclimated to access backup array factors was not commonly screened, and the claret was frequently attenuated with the hepatitis C virus (HCV) or HIV. Therefore, abounding patients who accustomed backup array agency analysis were at accident for HCV or HIV infection. Although this accident is lower today, affliction should consistently be taken to ensure that claret is buried for HCV, HIV, and added blood-borne infections afore a claret admixture begins.
Surgery: Assertive procedures backpack an added accident of bleeding, such as dental extractions, tonsil removal, anaplasty in the urinary and animal tracts, and nasal surgery.
Thrombosis: Occlusion is the accumulation of a array or array central a claret barge that obstructs the breeze of blood. Occlusion may action afterward abiding analysis with array factors, abnormally in patients with alarmist disease. If abiding beginning arctic claret beverage is necessary, a baby bulk of heparin (a claret thinner) may be added to abatement the accident of boundless clotting.
General: Currently there is no accepted cure for Agency XI deficiency. Analysis is usually not necessary, except in the case of a dental action or surgery. In these cases, beginning arctic claret or recombinant (artificial) agency XI may be used. Patients with Agency XI absence about do not charge analysis or antitoxin analysis for accepted functions or activities. Patients should acquaint their doctors if they are demography any decree or over-the-counter drugs, herbs, or supplements because they may collaborate with analysis and aggravate ache symptoms.
Aspirin: Aspirin increases the accident of bleeding by inhibiting platelet function. Patients with Agency XI absence should accordingly not booty aspirin or blood-thinning medications such as warfarin or heparin.
Blood transfusions: Patients who ache from astringent bleeding may accept claret transfusions with donated blood. Anyone acceptable to accept claret derivatives as allotment of a analysis should be vaccinated adjoin hepatitis A and B.
Clotting factors: Individuals with added astringent forms of Agency XI absence may crave backup of agency XI application beginning arctic plasma. Acknowledged analysis has been appear during surgeries with the use of plasma, prothrombin circuitous concentrates, and recombinant activated agency VII. Prothrombin circuitous concentrates are fabricated from animal plasma. They accommodate array factors II, VII, IX, and X; C protein; a baby bulk of heparin to assure adjoin occlusion (excessive array formation); and vitamin K. This analysis works by bartering the all-important enzymes to actuate the array cascade. It is important to get beginning arctic claret into the claret during abrupt bleeding episodes or afore surgery.
Because Agency XI is not concentrated in beginning arctic plasma, ample amounts of claret may be appropriate to advance the agency level. In the case of aperture bleeding, drugs that advice with array (antifibrinolytic products), such as Amicar, can be helpful. Currently there are two agency XI concentrates produced in Europe. One is bogus by Bioproducts Laboratories in the UK. The added is produced in France by LFB and is accessible for abandoned bound accommodating use.
Invasive surgical procedures about crave beginning arctic claret replacement, which should be connected for seven to 14 canicule afterwards surgery. Dental procedures accept been performed carefully with the use of agency replacement. Administration of the antifibrinolytic biologic tranexamic acerbic abandoned has been acknowledged as a alertness for dental extraction. The analysis is started afore the action and connected for a anniversary afterward it.
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Childbirth: Abundant women may charge beginning arctic claret if a cesarean commitment is planned, although this convenance is controversial. It is accepted to amusement patients to advance agency XI levels aloft 50% during activity and to abide analysis for three to four canicule afterwards vaginal commitment and seven canicule afterwards cesarean commitment because of the aerial accident of hemorrhage.
Medications: The use of desmopressin, an antidiuretic that reduces aqueous loss, has been advised in a bound cardinal of patients with Agency XI absence to try to abate array time. The accurate account of this analysis is unclear, and it is not recommended for aloft surgical procedures. Antifibrinolytic analysis has been acclimated in the analysis of women with Agency XI absence and menorrhagia (long and abundant menstrual flow).
Note: Currently, there is bereft affirmation accessible on the assurance and capability of commutual therapies for the blockage or analysis of Agency XI deficiency. The therapies listed beneath accept been advised for the blockage or analysis of bleeding or hemorrhaging. They should be acclimated abandoned beneath the administration of a able healthcare provider and should not be acclimated in backup of added accurate therapies or antitoxin measures.
Good accurate evidence:
Rhubarb: Argument has been acclimated in acceptable Chinese anesthetic for abounding disorders associated with the belly and intestine, including aerial gastrointestinal bleeding. Aboriginal studies advance that argument may advice abate aerial gastrointestinal bleeding. Higher affection studies are all-important afore a close advocacy can be made. Abstain in individuals who are allergic or acute to rhubarb. Abstain application argument for added than two weeks because it may abet altruism in the colon, melanosis coli (a colon disorder), laxative dependence, dissection alterations in the colonic bland muscles, and abundant accident of electrolytes. Argument should be abhorred in individuals with atony, colitis, Crohn's disease, aridity with electrolyte depletion, diarrhea, hemorrhoids, bereft alarmist function, abdominal obstruction or ileus, annoyed bowel syndrome, menstruation, pre-eclampsia (high claret burden during pregnancy), branch disorders, ulcerative colitis (colon tumors), and urinary problems. Abstain administration argument leaves, as they may account allergic bark reactions. Abstain use of argument in accouchement beneath age 12 because of the abeyant for baptize depletion. Use carefully with bleeding disorders, cardiac conditions, agglomeration therapy, constipation, history of branch stones, or attenuate or breakable bones. Use carefully if demography antipsychotic drugs or articulate drugs, herbs, or supplements, including calcium, iron, and zinc. Abstain if abundant or breastfeeding.
Unclear or adverse accurate evidence:
Bellis perennis: Bellis perennis is a accepted European breed of daisy. Bellis perennis has been acclimated commonly for alleviative wounds. In homeopathy, Bellis perennis is about acclimated in aggregate with Arnica montana to amusement able-bodied and trauma. Accepted daisy is broadly acclimated in homeopathy but is currently abandoned rarely acclimated in herbal medicine. Although homeopathic dosing is About Recognized as Safe (GRAS) by the U.S. Food and Biologic Administration (FDA), there is a abridgement of well-designed analytic trials to abutment claims for ability accompanying to the use of Bellis perennis. Added analysis is bare in this area. Abstain if allergic or acute to Bellis perennis, its constituents, or added plants of the Asteraceae/Compositae family, such as ragweed, chrysanthemums, marigolds, and dandelion. Use carefully if demography anticoagulants or with bleeding disorders. Use carefully if at accident for agglomeration disorders such as acclamation or claret clots. Use carefully with anemia. Abstain use in accouchement at acceptable herbal doses because of the achievability of bantam growth. Abstain if abundant or breastfeeding because of the achievability of advance amentia in the fetus and infant.
Hypnosis: There is ambiguous affirmation from aboriginal studies of analgesic analysis for hemophilia, a bleeding disorder. Additional abstraction is bare afore a close cessation can be drawn. Use carefully with brainy illnesses such as psychosis or schizophrenia, bipolar disorder, assorted personality disorder, or dissociative disorders. Use carefully with access disorders. Appear ancillary furnishings accommodate changes in bark temperature, affection rate, abdominal secretions and allowed response, decreased claret burden and academician beachcomber patterns, advancing memories, and apocryphal memories.
Vitamin K: Vitamin K is begin in blooming abounding vegetables, such as spinach, broccoli, asparagus, and watercress, as able-bodied as in foods such as cabbage, cauliflower, blooming peas, beans, olives, canola oil, soybeans, meat, cereals, and dairy products. Vitamin K is capital for accustomed claret clotting. Because patients with Agency XI absence cannot anatomy claret clots normally, supplementation with vitamin K may be beneficial. Vitamin K absence in breed may advance to hemorrhagic ache of the newborn, additionally accepted as vitamin K absence bleeding (VKDB). Although about bisected of newborns may accept some amount of vitamin K deficiency, austere hemorrhagic ache is rare. Because vitamin K accustomed by bang has been apparent to anticipate VKBD in newborns and adolescent infants, the American Academy of Pediatrics recommends administering a distinct intramuscular bang of vitamin K1 to all newborns. Articulate dosing is not advised able as prevention, decidedly in breastfeeding infants. Initial apropos of blight accident were never accurate and are about not advised clinically relevant. In cases of accurate VKDB, bleeding may action at bang sites, at the umbilicus, or in the gastrointestinal tract. Life-threatening bleeding into the arch (intracranial) or in the breadth abaft the lower belly (retroperitoneum) may additionally occur. Evaluation by a physician is imperative.
General: Because Agency XI absence is inherited, there is currently no accepted way to anticipate the condition. However, individuals can booty accomplish to abate their accident of boundless bleeding that can be acquired or worsened by assertive affairs or comestible habits. It is important for patients to acquaint their doctor if they are aggravating a new diet or demography any new decree or over-the-counter drugs, herbs, or supplements (e.g., aspirin or accompanying medicines, nonsteroidal anti-inflammatory drugs, such as ibuprofen, or vitamin K) because they may be causing or deepening symptoms. Regular dental affliction is important to advice abstain dental surgeries. Patients should abrasion a MedicAlert© armlet or alternation at all times engraved with the blazon of agglomeration problem.
Aspirin: Aspirin increases the accident of bleeding by inhibiting platelet function. Patients with Agency XI absence should accordingly not booty aspirin or blood-thinning medicines such as warfarin or heparin.
Genetic counseling: Individuals who accept Agency XI absence may accommodated with a abiogenetic advisor afore accepting accouchement to actuate whether they backpack the abnormal F11 gene. Carriers can be bent through abundant ancestors histories. If the aberration of the alteration is accepted to be accepted in a assertive family, abiogenetic testing may be accessible in some cases.
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This advice has been edited and peer-reviewed by contributors to the Natural Standard Analysis Collaboration (www.naturalstandard.com).
Copyright © 2011 Natural Standard (www.naturalstandard.com)
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