Mutacja czynnika v leiden
Objawy
Mutacja czynnika V Leiden jest genetycznym zaburzeniem zwiększającym ryzyko zakrzepicy żylnej, zwłaszcza zakrzepicy żył głębokich (DVT) kończyn dolnych oraz zatorowości płucnej (PE). Ryzyko to jest zależne od genotypu: heterozygoty wykazują 3-8-krotnie, a homozygoty 9-80-krotnie zwiększone ryzyko zakrzepicy w porównaniu do populacji ogólnej. U kobiet w ciąży ryzyko zakrzepicy wzrasta odpowiednio do 7x (heterozygoty) i 17-34x (homozygoty), a stosowanie antykoncepcji estrogenowej u heterozygot zwiększa ryzyko nawet 35-krotnie. Zakrzepy mogą pojawiać się także w nietypowych lokalizacjach, takich jak naczynia mózgowe, żyły wątrobowe czy siatkówki, powodując objawy zależne od miejsca zakrzepu. Objawy kliniczne DVT obejmują ból, obrzęk, zaczerwienienie i uczucie ciepła kończyny, natomiast PE manifestuje się nagłą dusznością, bólem w klatce piersiowej, kaszlem z krwiopluciem oraz tachykardią. Wystąpienie pierwszego epizodu zakrzepicy przed 50. rokiem życia jest charakterystyczne dla pacjentów z mutacją.
Objawy mutacji czynnika V Leiden
Mutacja czynnika V Leiden sama w sobie nie wywołuje żadnych objawów. Jest to zaburzenie genetyczne, które zwiększa ryzyko wystąpienia nieprawidłowych zakrzepów krwi, szczególnie w żyłach głębokich kończyn dolnych oraz w płucach. Pierwszy sygnał, że pacjent ma to zaburzenie, to najczęściej wystąpienie nieprawidłowego zakrzepu krwi12. Warto podkreślić, że większość osób z mutacją czynnika V Leiden nigdy nie rozwinie zakrzepicy3.
Zakrzepica żył głębokich (ZŻG)
Najczęstszym powikłaniem związanym z mutacją czynnika V Leiden jest zakrzepica żył głębokich (deep vein thrombosis – DVT), która zwykle występuje w nogach. ZŻG może przebiegać bezobjawowo, jednak gdy objawy wystąpią, mogą obejmować14:
- Ból lub tkliwość kończyny, szczególnie podczas stania lub chodzenia
- Obrzęk jednej kończyny (rzadko obu)
- Zaczerwienienie lub przebarwienie skóry
- Uczucie ciepła w obszarze dotkniętym zakrzepicą
- Widoczne powiększenie żył powierzchownych
- Uczucie ciężkości lub napięcia
Zatorowość płucna (ZP)
Zatorowość płucna (pulmonary embolism – PE) występuje, gdy fragment zakrzepu oderwie się i przemieści przez prawą stronę serca do płuc, blokując przepływ krwi. Jest to stan zagrażający życiu, który wymaga natychmiastowej pomocy medycznej. Objawy zatorowości płucnej obejmują12:
- Nagłą duszność
- Ból w klatce piersiowej, nasilający się podczas wdechu
- Kaszel, który może prowadzić do odkrztuszania krwi lub plwociny z domieszką krwi
- Przyspieszone bicie serca (tachykardia)
- Uczucie niepokoju
- Zawroty głowy lub omdlenia
Zakrzepica w nietypowych lokalizacjach
U osób z mutacją czynnika V Leiden zakrzepy mogą również wystąpić w nietypowych miejscach, takich jak910:
- Naczynia mózgowe
- Żyły wątrobowe
- Żyły siatkówki
- Żyły krezkowe
- Żyły ramienia (szczególnie u młodszych pacjentów)
Zakrzepica w tych nietypowych lokalizacjach może wywołać specyficzne objawy zależne od miejsca wystąpienia. Na przykład, zakrzepica żył mózgowych może objawiać się silnymi bólami głowy, drgawkami lub objawami udaru, podczas gdy zakrzepica żył wątrobowych może powodować ból brzucha i powiększenie wątroby12.
Powikłania ciążowe związane z mutacją czynnika V Leiden
Kobiety z mutacją czynnika V Leiden mają zwiększone ryzyko powikłań zakrzepowych podczas ciąży. Ryzyko zakrzepicy żylnej podczas ciąży jest około siedmiokrotnie wyższe u kobiet z pojedynczą mutacją czynnika V Leiden (heterozygoty) w porównaniu do kobiet bez tej mutacji1310.
Możliwe powikłania ciążowe związane z mutacją czynnika V Leiden obejmują914:
- Zwiększone ryzyko poronień, szczególnie w drugim i trzecim trymestrze (2-3-krotnie wyższe)
- Niewyjaśnione utraty ciąży
- Stan przedrzucawkowy (preeklampsja)
- Przedwczesne oddzielenie łożyska
- Opóźnienie wzrostu płodu
- Zakrzepica podczas ciąży lub bezpośrednio po porodzie
Warto podkreślić, że większość kobiet z mutacją czynnika V Leiden przechodzi ciążę bez powikłań. Jednakże kobiety z tą mutacją, które planują ciążę, powinny omówić to ze swoim położnikiem i/lub hematologiem, aby ustalić odpowiedni plan opieki medycznej10.
Progresja choroby i czynniki ryzyka
Heterozygoty vs homozygoty
Ryzyko rozwoju zakrzepicy żylnej zależy od liczby zmutowanych genów czynnika V Leiden16:
- Heterozygoty (jedna kopia zmutowanego genu) – około 3-8-krotnie zwiększone ryzyko zakrzepicy żylnej13
- Homozygoty (dwie kopie zmutowanego genu) – 9-80-krotnie zwiększone ryzyko1317
Osoby homozygotyczne pod względem mutacji czynnika V Leiden mają znacznie wyższe ryzyko zakrzepowe i zazwyczaj rozwijają zakrzepicę w młodszym wieku w porównaniu do heterozygot1318.
Wpływ dodatkowych czynników ryzyka
Wystąpienie objawów i powikłań u osób z mutacją czynnika V Leiden jest często zależne od obecności dodatkowych czynników ryzyka, takich jak917:
- Stosowanie doustnych środków antykoncepcyjnych zawierających estrogeny (zwiększa ryzyko 35-krotnie u heterozygot)17
- Hormonalna terapia zastępcza (zwiększa ryzyko 15-krotnie u heterozygot)17
- Ciąża i okres poporodowy
- Operacje chirurgiczne
- Długotrwałe unieruchomienie (np. długie loty)
- Otyłość
- Palenie tytoniu
- Obecność innych zaburzeń krzepnięcia
Ryzyko zakrzepicy mnoży się przy współistnieniu kilku czynników ryzyka. Na przykład, względne ryzyko żylnej choroby zakrzepowo-zatorowej dla kobiet heterozygotycznych dla czynnika V Leiden wynosi 3-8, jednak wzrasta do 35-50 przy jednoczesnym stosowaniu antykoncepcji zawierającej estrogeny19.
Wiek wystąpienia objawów
Objawy zakrzepicy związanej z mutacją czynnika V Leiden często pojawiają się w młodszym wieku w porównaniu do zakrzepicy niezwiązanej z tą mutacją20:
- Pierwszy epizod zakrzepowy przed 50 rokiem życia jest charakterystyczny dla osób z mutacją czynnika V Leiden910
- U homozygot zakrzepica często rozwija się w młodszym wieku niż u heterozygot13
- Początek zakrzepicy w grupie z mutacją czynnika V Leiden występuje najczęściej w przedziale wiekowym 20-50 lat20
Rokowanie i wpływ na długość życia
Mutacja czynnika V Leiden generalnie nie wpływa na oczekiwaną długość życia u większości osób21. Nawet u osób z historią żylnej choroby zakrzepowo-zatorowej, heterozygotyczność dla mutacji czynnika V Leiden nie jest związana ze zwiększoną śmiertelnością lub skróceniem normalnej oczekiwanej długości życia13.
Jednakże powikłania zakrzepowe związane z mutacją czynnika V Leiden, takie jak zatorowość płucna, mogą stanowić zagrożenie życia, jeśli nie zostaną szybko rozpoznane i leczone1. Dlatego też ważne jest, aby osoby z rozpoznaną mutacją czynnika V Leiden były świadome objawów zakrzepicy i zatorowości płucnej oraz szukały natychmiastowej pomocy medycznej w przypadku ich wystąpienia2.
Częstotliwość występowania powikłań
Mimo zwiększonego ryzyka zakrzepicy, tylko około 10% osób z mutacją czynnika V Leiden kiedykolwiek rozwinie nieprawidłowe zakrzepy14. Roczne ryzyko rozwoju zakrzepicy żył głębokich lub zatorowości płucnej w populacji ogólnej wynosi około 1 na 10 000 osób i wzrasta z wiekiem22.
U osób z mutacją czynnika V Leiden ryzyko nawrotu zakrzepicy jest zwiększone, szczególnie u homozygot9. Osoby, które doświadczyły już jednego epizodu zakrzepowego, są bardziej narażone na kolejne epizody, zwłaszcza jeśli współistnieją inne czynniki ryzyka17.
| Genotyp | Ryzyko względne zakrzepicy żylnej | Ryzyko w czasie ciąży | Ryzyko przy stosowaniu antykoncepcji estrogenowej |
|---|---|---|---|
| Populacja ogólna (bez mutacji) | 1x | 1x | 3-4x |
| Heterozygoty FVL | 3-8x | 7x | 35x |
| Homozygoty FVL | 9-80x | 17-34x | Kilkaset razy |
Nietypowe objawy i powiązane dolegliwości
Oprócz klasycznych objawów zakrzepicy, u niektórych pacjentów z mutacją czynnika V Leiden mogą wystąpić inne, mniej typowe dolegliwości2323:
- Zmęczenie (zgłaszane przez 90% pacjentów z różnym nasileniem)
- Ból o różnym nasileniu (zgłaszany przez 86% pacjentów)
- Stres (zgłaszany przez 94% pacjentów)
- Nastrój lękowy (zgłaszany przez 78% pacjentów)
- Obniżony nastrój (zgłaszany przez 72% pacjentów)
Należy jednak zauważyć, że powyższe objawy są niespecyficzne i mogą być związane z wieloma innymi stanami, a także mogą wynikać z psychologicznego wpływu diagnozy zaburzenia genetycznego i związanego z nim ryzyka24.
Objawy u dzieci
U dzieci z mutacją czynnika V Leiden objawy są podobne jak u dorosłych, ale występują rzadziej. Dzieci mają niewielkie ryzyko rozwoju zakrzepów krwi25. Zakrzepy u dzieci często tworzą się w miejscach, gdzie znajdują się cewniki dożylne lub centralne26. Wczesne objawy zakrzepu u dzieci obejmują2527:
- Ból kończyny (ręki lub nogi)
- Obrzęk kończyny
- Duszność
- Ból w klatce piersiowej
W przypadku wystąpienia tych objawów u dziecka z rozpoznaną mutacją czynnika V Leiden, należy natychmiast skontaktować się z lekarzem25.
Podsumowanie kluczowych objawów
Podstawowe objawy, które mogą wskazywać na powikłania związane z mutacją czynnika V Leiden, to91028:
- Pierwszy epizod zakrzepicy żył głębokich lub zatorowości płucnej przed 50 rokiem życia
- Nawracające epizody zakrzepicy żył głębokich lub zatorowości płucnej
- Zakrzepica żylna w nietypowych miejscach (mózg, wątroba, siatkówka)
- Zakrzepica żylna podczas ciąży lub bezpośrednio po porodzie
- Historia niewyjaśnionych utrat ciąży w drugim lub trzecim trymestrze
- Zakrzepica żylna przy silnej rodzinnej historii żylnej choroby zakrzepowo-zatorowej
Ważne jest, aby pamiętać, że mutacja czynnika V Leiden sama w sobie nie powoduje żadnych objawów, a jedynie zwiększa ryzyko rozwoju zakrzepicy. Większość osób z tą mutacją nigdy nie doświadczy powikłań zakrzepowych3. Jednakże, w przypadku wystąpienia objawów zakrzepicy żył głębokich lub zatorowości płucnej, należy natychmiast szukać pomocy medycznej, ponieważ te stany mogą zagrażać życiu29.
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Materiały źródłowe
- #1 Factor V Leidenhttps://johnsonmemorial.org/jmh-health/disease-conditions/con-20372408
The factor V Leiden mutation does not itself cause any symptoms. Since factor V Leiden is a risk for developing blood clots in the leg or lungs, the first indication that you have the disorder may be the development of an abnormal blood clot. […] Symptoms of a blood clot depend on what part of your body is affected. […] A DVT may not cause any symptoms. If signs and symptoms do occur, they can include: Pain, Swelling, Redness, Warmth. […] Known as a pulmonary embolism, this occurs when a portion of a DVT breaks free and travels through the right side of your heart to your lung, where it blocks blood flow. This can be a life-threatening situation. Signs and symptoms may include: Sudden shortness of breath, Chest pain when breathing in, A cough that produces bloody or blood-streaked sputum, Rapid heartbeat. […] Factor V Leiden can cause blood clots in the legs (deep vein thrombosis) and lungs (pulmonary embolism). These blood clots can be life-threatening.
- #2 Factor V Leiden | UM Health-Sparrowhttps://www.uofmhealthsparrow.org/departments-conditions/conditions/factor-v-leiden
The factor V Leiden mutation does not itself cause any symptoms. Since factor V Leiden is a risk for developing blood clots in the leg or lungs, the first indication that you have the disorder may be the development of an abnormal blood clot. […] Symptoms of a blood clot depend on what part of your body is affected. […] A DVT may not cause any symptoms. If signs and symptoms do occur, they can include: Pain, Swelling, Redness, Warmth. […] Known as a pulmonary embolism, this occurs when a portion of a DVT breaks free and travels through the right side of your heart to your lung, where it blocks blood flow. This can be a life-threatening situation. Signs and symptoms may include: Sudden shortness of breath, Chest pain when breathing in, A cough that produces bloody or blood-streaked sputum, Rapid heartbeat. […] Seek medical attention immediately if you have signs or symptoms of either a DVT or a pulmonary embolism. […] Factor V Leiden can cause blood clots in the legs (deep vein thrombosis) and lungs (pulmonary embolism). These blood clots can be life-threatening.
- #3 Factor V Leiden Mutation – StatPearls – NCBI Bookshelfhttps://www.ncbi.nlm.nih.gov/books/NBK534802/
Factor V Leiden is a point mutation of factor V, resulting in an elimination of the cleavage site in factor V and factor Va. This genetic defect leads to an increased risk of thrombosis, especially in homozygous or pseudo-homozygous factor V Leiden mutations. Many individuals with the mutation will never develop a venous thrombotic event (VTE). […] The primary clinical manifestation of the factor V Leiden mutation is the risk for venous thromboembolism (VTE). However, the most common finding in individuals with factor V Leiden is a laboratory-only abnormality. Only a small percentage of individuals with factor V Leiden will develop VTE in their lifetime, with an approximate risk of 5% for factor V Leiden heterozygotes in the general population and up to 20% in thrombophilic families. […] A proportion of the population with factor V Leiden will suffer from venous thrombosis. Thromboembolism, including pulmonary embolism, carries significant morbidity and mortality. However, despite the increase in the risk of VTE, there is no evidence that heterozygosity to factor V Leiden increases overall mortality.
- #4 Factor V Leiden | The Foundation to Advance Vascular Cureshttps://www.vascularcures.org/factor-v-leiden
Factor V Leiden is the name of the genetic variation that increases the tendency for the body to form large blood clots (also known as thrombophilia). […] While factor V Leiden increases the risk for blood clots, only a small percentage of the people who have it develop abnormal clotting. […] Blood clots can block normal blood flow in veins and arteries. Sometimes clots can break free and travel to the legs and lungs. If you have Factor V Leiden thrombophilia, these are some conditions and symptoms to look out for: A deep vein thrombosis (DVT) is a clot that blocks blood flow in the legs. Symptoms may include: Pain, throbbing, or a persistent cramp-like feeling, Feeling of warmth on the leg, Redness or discoloration, Swelling in the affected leg (it is rare that both legs are swollen). A pulmonary embolism (PE) is a clot that travels and blocks blood flow in the lungs. Symptoms may include: Sudden shortness of breath, Sharp chest pain when inhaling or breathing in, Coughing up blood or blood-tinged saliva, Fast heartbeat. […] If you suspect you have a DVT or a PE, call 911 right away.
- #5 Factor V Leiden: Symptoms, Cause, Diagnosis, and Treatmenthttps://www.webmd.com/dvt/factor-v-leiden
Factor V Leiden makes it harder for your clots to break up. If the clots don’t go away, you’re more likely to have them in the veins in your legs. This is called deep vein thrombosis (DVT). […] Symptoms of DVT include: Changes in skin color, such as more red or purple than usual, Heaviness, tenderness, or throbbing, Pain that feels like a cramp or charley horse, Skin that’s warm to the touch, Swelling, Veins that look larger than usual. […] Women who have factor V Leiden are two to three times more likely to lose a baby in the second or third trimester. This can happen more than once. It can also make you more likely to get high blood pressure during pregnancy (called preeclampsia) or early separation of the placenta from your uterine wall (called placental abruption). Factor V Leiden can also make your baby grow more slowly.
- #6 Factor V Leiden Thrombophilia: Genetics, Symptoms, and Treatmenthttps://www.healthline.com/health/factor-v-leiden-thrombophilia
Factor V Leiden mutation primarily increases the risk of venous thromboembolism (VTE), a condition in which blood clots form in veins. […] The most common manifestations of VTE in individuals with Factor V Leiden are deep vein thrombosis (DVT) and pulmonary embolism (PE). […] Here are the symptoms of each: […] Deep vein thrombosis (DVT): swelling in one leg, pain or tenderness in the leg, especially when standing or walking, red or discolored skin on the leg, warmth in the affected area. […] Pulmonary Embolism (PE): sudden shortness of breath, sharp chest pain or discomfort, rapid or irregular heartbeat, coughing up blood. […] While Factor V Leidens role in arterial thromboembolism, such as heart attacks and strokes, is debated, studies suggest a slight increase in risk. This risk may be more pronounced in females, smokers, and younger individuals.
- #7 Factor V Leiden Mutation – Anatolia Geneworkshttps://www.anatoliageneworks.com/diseases/factor-v-leiden-mutation/
The factor V Leiden mutation usually doesnt cause any symptoms, and many people who inherit it never develop abnormal blood clots or even realize they have the disorder. […] However, some people with this disorder may develop deep vein thrombosis (DVT) or pulmonary embolism (PE), and its crucial to recognize the symptoms so that immediate medical attention can be sought. […] Symptoms of DVT include swelling in the leg or arm, tenderness or pain in the limb, larger than normal veins near the skins surface, and pain in the belly or flank if blood clots affect veins in that area. Symptoms of PE include sudden shortness of breath, sharp chest pain that worsens when breathing deeply or coughing/sneezing, cough that may produce blood, wheezing, fast heartbeat, feeling anxious, and feeling light-headed or fainting.
- #8 Factor V Leiden: Causes, Symptoms And Treatmenthttps://www.netmeds.com/health-library/post/factor-v-leiden-causes-symptoms-and-treatment?srsltid=AfmBOoqFkqiwkQzog3T8vDzvIhnDN0TJMXPaD0Rk0paoi93o2BM50jxP
Factor V Leiden disorder itself does not show any characteristic symptom, but since some of the abnormal blood clots happen in the deep vein or gets dislodged and settles within the lungs, it leads to some common symptoms. These include: […] In case of DVT: Swelling, Pain and tenderness, Heaviness of the affected part, Warmth of the skin, Vivid red discoloration, Purple or bluish discoloration of the skin, Veins that look large than usual. […] In case of P.E: Sudden shortness of breath, Coughing up blood or blood-streaked sputum, Sharp chest pain, Rapid heartbeat and palpitations (i.e., tachycardia), Fainting or dizziness, Very low blood pressure.
- #9 Factor V Leiden – Wikipediahttps://en.wikipedia.org/wiki/Factor_V_Leiden
The symptoms of factor V Leiden vary among individuals. There are some individuals who have the F5 gene and who never develop thrombosis, while others have recurring thrombosis before the age of 30 years. This variability is influenced by the number of F5 gene (chromosome 1) mutations a person has, the presence of other gene alterations related to blood clotting, and circumstantial risk factors, such as surgery, use of oral contraceptives and pregnancy. […] Symptoms of factor V Leiden include: Having a first DVT (deep vein thrombosis) or PE (pulmonary embolism) before age 50. Having recurring DVT or PE. Having venous thrombosis in unusual sites in the body such as the brain or the liver. Having a DVT or PE during or right after pregnancy. Having a history of unexplained pregnancy loss in the second or third trimester. Having a DVT or PE and a strong family history of venous thromboembolism.
- #9 Factor V Leiden – Wikipediahttps://en.wikipedia.org/wiki/Factor_V_Leiden
The excessive clotting that occurs in this disorder is almost always restricted to the veins, where the clotting may cause a deep vein thrombosis (DVT). If the venous clots break off, these clots can travel through the right side of the heart to the lung where they block a pulmonary blood vessel and cause a pulmonary embolism. It is extremely rare for this disorder to cause the formation of clots in arteries that can lead to stroke or heart attack, though a „mini-stroke”, known as a transient ischemic attack, is more common. Given that this disease displays incomplete dominance, those who are homozygous for the mutated allele are at a heightened risk for the events detailed above versus those who are heterozygous for the mutation. […] Women with factor V Leiden have a substantially increased risk of clotting in pregnancy (and on estrogen-containing birth control pills or hormone replacement) in the form of deep vein thrombosis and pulmonary embolism. They also may have a small increased risk of preeclampsia, may have a small increased risk of low birth weight babies, may have a small increased risk of miscarriage and stillbirth due to either clotting in the placenta, umbilical cord, or the fetus (fetal clotting may depend on whether the baby has inherited the gene) or influences the clotting system may have on placental development. Note that many of these women go through one or more pregnancies with no difficulties, while others may repeatedly have pregnancy complications, and still others may develop clots within weeks of becoming pregnant.
- #10 About Factor V Leiden Thrombophiliahttps://www.genome.gov/Genetic-Disorders/Factor-V-Leiden-Thrombophilia
The symptoms of factor V Leiden vary among individuals. There are some individuals who have the F5 gene and who never develop thrombosis, while others have recurring thrombosis before the age of 30 years. This variability is influenced by the number of F5 gene mutations a person has, the presence of other gene alterations related to blood clotting, and circumstantial risk factors, such as surgery, use of oral contraceptives and pregnancy. […] Symptoms of Factor V Leiden include: Having a first DVT or PE before 50 years of age. […] Having recurring DVT or PE. […] Having venous thrombosis in unusual sites in the body such as the brain or the liver. […] Having a DVT or PE during or right after pregnancy. […] Having a history of unexplained pregnancy loss in the second or third trimester.
- #10 About Factor V Leiden Thrombophiliahttps://www.genome.gov/Genetic-Disorders/Factor-V-Leiden-Thrombophilia
Having a DVT or PE and a strong family history of venous thromboembolism. […] Factor V Leiden increases the risk of developing a DVT during pregnancy by about seven-fold. Women with factor V Leiden who are planning pregnancy should discuss this with their obstetrician and/or hematologist. Most women with factor V Leiden have normal pregnancies and only require close follow-up during pregnancy. For those with a history of DVT or PE, treatment with an anticoagulant during a subsequent pregnancy can prevent recurrent problems.
- #11 Arm Swelling From Subclavian Vein Thrombosis: Factor V Leiden Mutation | Wen | International Journal of Clinical Pediatricshttps://www.theijcp.org/index.php/ijcp/article/view/343/302
Factor V Leiden is a genetic condition that can decrease natural anticoagulant effect in response to activated protein C, increasing thromboembolic risk. […] We present a 17-year-old man who had sudden onset arm stiffness, pain and swelling caused by a deep vein thrombosis in the subclavian vein. […] A previously healthy 17-year-old man presented to his pediatrician with a 1-day history of arm stiffness, swelling and redness. […] He was a competitive athlete who while stretching at early morning practice noticed stiffness of the left shoulder which was followed by swelling and redness of the left upper limb. […] His left arm was dark purple in color and moderately swollen compared to the right. […] Thrombophilia screening identified the patient to be homozygous for FVL mutation and heterozygote for the methylene tetrahydrofolate reductase variant with normal homocysteine level.
- #12 Acute Simultaneous Renal and Ovarian Vein Thrombosis Mimicking Renal Colic and Associated with Factor V Leiden: Case Report and Review of Literaturehttps://clinmedjournals.org/articles/cmrcr/clinical-medical-reviews-and-case-reports-cmrcr-7-297.php?jid=cmrcr
Severe flank pain is a frequent complaint at the emergency department (ED). […] We discuss the case of a young previously healthy lady that was presented for intractable left flank pain without any other associated symptoms and was found to have left renal and ovarian venous thrombosis probably due to a heterozygous mutation in factor V. […] The presentation of renal vein thrombosis is usually variable and vary by the rapidity of the venous occlusion; patients may be asymptomatic or having symptoms related only to the underlying etiology. Acute renal vein thrombosis usually presents with symptoms of renal infarction, including flank pain, flank tenderness, rapid deterioration of renal function and worsening proteinuria, micro or macroscopic hematuria. […] Our patient has had most probably an acute rather than chronic venous thrombosis since the pain had rapid onset and was only associated to a recent microscopic hematuria without evidence of a chronic urinary or gynecologic manifestations.
- #13 Factor V Leiden Thrombophilia – GeneReviews® – NCBI Bookshelfhttps://www.ncbi.nlm.nih.gov/books/NBK1368/
Factor V Leiden thrombophilia is characterized by venous thromboembolism (VTE) manifesting most commonly in adults as deep vein thrombosis (DVT) in the legs or pulmonary embolism. […] The relative risk for VTE is increased approximately three- to eightfold in factor V Leiden variant heterozygotes. […] Individuals heterozygous for the factor V Leiden variant have a sixfold increased risk for primary upper-extremity thrombosis (not related to malignancy or a venous catheter). […] Women heterozygous for the factor V Leiden variant have a five- to eightfold greater risk of pregnancy-related VTE than women without the variant. […] Compared to heterozygotes, homozygotes have a higher thrombotic risk and tend to develop thrombosis at a younger age. […] The risk for VTE in homozygotes is reported to be nine- to 80-fold.
- #13 Factor V Leiden Thrombophilia – GeneReviews® – NCBI Bookshelfhttps://www.ncbi.nlm.nih.gov/books/NBK1368/
In women homozygous for the factor V Leiden variant, the relative risk of VTE during pregnancy is increased 17- to 34-fold. […] Heterozygosity for the factor V Leiden variant is not associated with an increase in mortality or reduction in normal life expectancy even in the presence of a history of VTE.
- #14 Factor V Leiden thrombophilia: MedlinePlus GeneticsLockhttps://medlineplus.gov/genetics/condition/factor-v-leiden-thrombophilia/
Factor V Leiden thrombophilia is an inherited disorder of blood clotting. People with factor V Leiden thrombophilia have a higher than average risk of developing a type of blood clot called a deep venous thrombosis (DVT). DVTs occur most often in the legs, although they can also occur in other parts of the body, including the brain, eyes, liver, and kidneys. Factor V Leiden thrombophilia also increases the risk that clots will break away from their original site and travel through the bloodstream. These clots can lodge in the lungs, where they are known as pulmonary emboli. Although factor V Leiden thrombophilia increases the risk of blood clots, only about 10 percent of individuals with the factor V Leiden mutation ever develop abnormal clots. […] The factor V Leiden mutation is associated with a slightly increased risk of pregnancy loss (miscarriage). Women with this mutation are two to three times more likely to have multiple (recurrent) miscarriages or a pregnancy loss during the second or third trimester. Some research suggests that the factor V Leiden mutation may also increase the risk of other complications during pregnancy, including pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). However, the association between the factor V Leiden mutation and these complications has not been confirmed. Most women with factor V Leiden thrombophilia have normal pregnancies.
- #15 Factor V Leiden | Encyclopedia MDPIhttps://encyclopedia.pub/entry/33344
Women with factor V Leiden have a substantially increased risk of clotting in pregnancy (and on estrogen-containing birth control pills or hormone replacement) in the form of deep vein thrombosis and pulmonary embolism. They also may have a small increased risk of preeclampsia, may have a small increased risk of low birth weight babies, may have a small increased risk of miscarriage and stillbirth due to either clotting in the placenta, umbilical cord, or the fetus (fetal clotting may depend on whether the baby has inherited the gene) or influences the clotting system may have on placental development. […] Note that many of these women go through one or more pregnancies with no difficulties, while others may repeatedly have pregnancy complications, and still others may develop clots within weeks of becoming pregnant.
- #15 Factor V Leiden | Encyclopedia MDPIhttps://encyclopedia.pub/entry/33344
Factor V Leiden (rs6025 or F5 p.R506Q) is a variant (mutated form) of human factor V (one of several substances that helps blood clot), which causes an increase in blood clotting (hypercoagulability). […] The symptoms of factor V Leiden vary among individuals. There are some individuals who have the F5 gene and who never develop thrombosis, while others have recurring thrombosis before the age of 30 years. This variability is influenced by the number of F5 gene mutations a person has, the presence of other gene alterations related to blood clotting, and circumstantial risk factors, such as surgery, use of oral contraceptives and pregnancy. […] Symptoms of factor V Leiden include: Having a first DVT or PE before 50 years of age. Having recurring DVT or PE. Having venous thrombosis in unusual sites in the body such as the brain or the liver. Having a DVT or PE during or right after pregnancy. Having a history of unexplained pregnancy loss in the second or third trimester. Having a DVT or PE and a strong family history of venous thromboembolism.
- #16 Factor V Leiden Information – Milton Keynes University Hospitalhttps://www.mkuh.nhs.uk/patient-information-leaflet/factor-v-leiden-information
There are no signs, unless you have a blood clot in the veins. […] The most common problem is a blood clot in the veins of the leg (Deep Vein Thrombosis). Symptoms of this include the leg becoming swollen, tense and painful. […] Rarely a blood clot in the lungs can develop (Pulmonary Embolism). Depending on the size of the blood clot symptoms range from being barely noticeable to severe difficulty in breathing and chest pain on breathing in. […] Most people with factor V Leiden have additional risk factors for developing a blood clot but having one Factor V Leiden gene will increase your risk of developing blood clots by 5 times and having two genes increases your risk 80 times.
- #17 Factor V (Five) Leiden Mutation | Fact Sheetshttps://www.melbournehaematology.com.au/fact-sheets/factor-v-five-leiden-mutation.html
Factor V Leiden mutation is a common change in a gene that controls a protein called Factor V. […] The main problem with having Factor V Leiden mutation is having an increased risk of developing blood clots. Blood clots can occur in blood vessels and can sometimes travel to different parts of the body including the lungs. Having Factor V Leiden increases your risk of having a blood clot. […] If you have one copy of the Factor V Leiden mutation (also called being a heterozygote for this gene), you are at around 8 times more at risk of developing a blood clot compared to someone your age who does not have this gene change. If you have two copies of the Factor V Leiden mutation (called homozygote), you have approximately 80 times the risk of developing a blood clot. […] Most people with one copy of the Factor V Leiden mutation DO NOT develop blood clots. Blood clots usually only develop when there are other risk factors for blood clots.
- #17 Factor V (Five) Leiden Mutation | Fact Sheetshttps://www.melbournehaematology.com.au/fact-sheets/factor-v-five-leiden-mutation.html
Both pregnancy and the use of the pill or hormone replacement therapy (HRT) after menopause can increase the risk of developing a blood clot. Women on the pill have around a 3-4 fold increased risk of getting a blood clot compared to other women who are not on the pill. Women who are on HRT have around a 2-3 fold increased risk in getting a blood clot. If women also have one copy of the Factor V Leiden mutation, these risks increase to around 35 times the risk of having a clot on the pill and 15 times the risk of having a clot on HRT. […] Sometimes people with the Factor V Leiden mutation may need to go on blood thinning medication to reduce the risk of developing blood clots. This will depend on lots of other factors including a past medical history of clots or a family history of blood clots. […] Maintaining a healthy weight, stopping smoking, staying active and keeping any other medical conditions under control should also help you protect against getting any blood clots.
- #18 Factor V Leiden: all the answers – Breda Genetics srlhttps://bredagenetics.com/factor-v-leiden-all-the-answers/
The factor V Leiden has been extensively studied in recent years. […] It should be noted immediately that the G1691A variant, although predisposing, is not predictive of thrombosis in all cases (some patients, in fact, remain asymptomatic). […] Thrombophilia due to factor V Leiden deficiency is characterized by an increased risk of venous thromboembolism, especially deep vein thrombosis, most commonly in the legs. […] Homozygous individuals have instead a much higher thrombotic risk. […] Regarding pregnancy, it is now clear that the factor V Leiden, both heterozygous and homozygous, does not actually represent a substantial risk factor for miscarriage or other adverse events of pregnancy (such as preeclampsia, reduced fetal growth or placental abruption). […] The clinical manifestation of thrombophilia due to factor V Leiden deficiency is influenced by the following factors: Genotype: heterozygotes for the Leiden variant have only a slightly increased risk of venous thrombosis, while homozygotes have a much higher thrombotic risk.
- #19 Thrombophilia: Symptoms and Treatment | Doctorhttps://patient.info/doctor/thrombophilia-pro
Factor V Leiden thrombophilia is the most common inherited form of thrombophilia. The prevalence in the US and European general populations is 3-8% for one copy of the factor V Leiden mutation, and about 1:5000 people have two copies of the mutation. […] Possible symptoms of thrombophilia are: A strong family history of VTE. VTE which is spontaneous or with minimal provoking factors. VTE at a young age. Thrombosis in an unusual site (eg, mesenteric, portal vein, sagittal sinus thrombosis) or in multiple sites. Recurrent VTE. Recurrent miscarriage. Neonatal thrombosis (eg, neonatal purpura fulminans – rare). Warfarin-induced skin necrosis (rare). […] VTE risks multiply; for example, the relative risk of VTE for women heterozygous for factor V Leiden is 3-8; however, this increases to 35-50 when taking oestrogen-containing contraception and then to several hundred for homozygous factor V Leiden women taking such contraceptives.
- #20 A case-control study on factor V Leiden: an independent, gender-dependent risk factor for venous thromboembolism | Thrombosis Journal | Full Texthttps://thrombosisjournal.biomedcentral.com/articles/10.1186/s12959-021-00328-0
Despite the higher frequency of women, the second thrombotic symptom was miscarriage (22%) along with pregnancy complications (5%), accounting together for 27% of all symptoms. […] All thrombotic symptoms were also compared in sex subgroups when gynecological symptoms were omitted. […] The incidence of symptoms at age intervals was assessed in both normal and APCR groups. All symptoms in APCR patients occurred at a young age. […] The onset of thrombosis in the APCR group occurred at a young age, with a narrower range of 20-50 years, than the control group.
- #21 Factor V Leiden: Symptoms, Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/17896-factor-v-leiden
Most people who have this disorder never develop blood clots or have pregnancy complications. But you should talk to your provider about what you can expect in your individual situation. […] Factor V Leiden doesn’t affect life expectancy in most people. Even if you develop a blood clot, prompt treatment can prevent a fatal outcome. It’s important to talk to your provider about any concerns you have related to life expectancy or future complications.
- #22 Factor V Leiden – Blood Clotshttps://www.stoptheclot.org/learn_more/factor-v-leiden-2/
Factor V Leiden is a blood clotting disorder. It is not a disease. […] The factor V Leiden protein is harder to turn off than the normal factor V protein. This makes blood clots more likely to form, a condition called thrombophilia. […] If you have factor V Leiden, you have a greater chance of developing blood clots. Blood clots in the deep veins in your legs (called deep vein thrombosis or DVT) or in your lungs (called pulmonary embolism or PE) can be dangerous. […] Having factor V Leiden means that you have a greater chance of developing a dangerous blood clot in your legs (DVT) or lungs (PE). […] About 1 out of 10,000 people will develop a DVT or PE each year. The risk increases with age: […] Having one factor V Leiden gene (heterozygous type) slightly increases the chance of developing a blood clot. Having two factor V Leiden genes (homozygous type) makes the risk much greater.
- #23 Factor V Leiden symptoms, treatments & forums | PatientsLikeMehttps://www.patientslikeme.com/conditions/factor-v-leiden
Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels. […] Common symptom Fatigue […] 61 factor V Leiden patients report severe fatigue (32%) […] 66 factor V Leiden patients report moderate fatigue (35%) […] 42 factor V Leiden patients report mild fatigue (22%) […] 19 factor V Leiden patients report no fatigue (10%) […] Common symptom Stress […] 13 factor V Leiden patients report severe stress (22%) […] 21 factor V Leiden patients report moderate stress (36%) […] 20 factor V Leiden patients report mild stress (34%) […] 4 factor V Leiden patients report no stress (6%) […] Common symptom Pain
- #23 Factor V Leiden symptoms, treatments & forums | PatientsLikeMehttps://www.patientslikeme.com/conditions/factor-v-leiden
35 factor V Leiden patients report severe pain (19%) […] 72 factor V Leiden patients report moderate pain (39%) […] 50 factor V Leiden patients report mild pain (27%) […] 26 factor V Leiden patients report no pain (14%) […] Common symptom Anxious mood […] 17 factor V Leiden patients report severe anxious mood (9%) […] 62 factor V Leiden patients report moderate anxious mood (33%) […] 64 factor V Leiden patients report mild anxious mood (34%) […] 42 factor V Leiden patients report no anxious mood (22%) […] Common symptom Depressed mood […] 13 factor V Leiden patients report severe depressed mood (7%) […] 49 factor V Leiden patients report moderate depressed mood (26%) […] 70 factor V Leiden patients report mild depressed mood (37%) […] 53 factor V Leiden patients report no depressed mood (28%).
- #24 Thick blood: Causes, risk factors, symptoms, and treatmenthttps://www.medicalnewstoday.com/articles/319842
Thick blood often produces no symptoms. The first sign may be a blood clot, or a person may experience symptoms related to the underlying health condition. […] Various symptoms may appear over time, including: fatigue, headaches, dizziness, weakness, sweating, especially at night, itchy skin, blurred vision and ringing in the ears, abdominal fullness or bloating, due to an enlarged spleen. […] In most people, a protein called activated protein C regulates the activity of the clotting factor called factor V. In people with this condition, protein C cannot regulate factor V’s activity, resulting in thick blood and a risk of clotting. […] Unregulated factor V activity leads to excessive clotting and thickened blood.
- #25 Factor V Leiden: Signs, Symptoms and Treatmenthttps://www.nationwidechildrens.org/conditions/factor-v-leiden-2
Children who have Factor V Leiden have a slight risk for developing blood clots. […] Call your childs doctor right away if your child has any symptoms of a blood clot. […] Early signs of blood clot are: Leg or arm pain, Leg or arm swelling, Shortness of breath, Chest pain. […] Most people with Factor V Leiden do not develop blood clots and do not need treatment. […] If blood clots become an issue, „blood-thinning” medicines (like Enoxaparin) can be used. This will halt growth of the clot and reduce the risk of future clots.
- #26 Factor V Leiden: Symptoms, Diagnosis and Treatmenthttps://www.nationwidechildrens.org/conditions/factor-v-leiden
Factor V Leiden is a genetic disorder. An abnormality in the affected individual’s DNA results in the production of an abnormal form of Factor V. The vast majority of those affected with Factor V Leiden will never encounter a problem and most will never be aware they are affected. However, when abnormal clots do form, the symptoms can be severe. The exact set of symptoms depends on the location of the abnormal clot. Common locations include leg veins (especially in adults) and at the site of indwelling plastic catheters (IVs, central lines), which are common in children with underlying chronic health conditions. Clots at these locations may cause dysfunction of the associated catheter and painful swelling of the affected extremity. If a piece of this abnormal clot breaks off, it can float downstream and ultimately become trapped in the lung. This is called a pulmonary embolism. If the piece of clot is small, it may not cause a problem. However, if the clot piece is large, a pulmonary embolism may be life-threatening. Abnormal clots in the brain can also cause significant and potentially life-threatening problems.
- #27 Factor V Leiden mutationhttps://www.aboutkidshealth.ca/factor-v-leiden-mutation
The FVL gene mutation itself does not cause any signs and symptoms. However, if your child develops a blood clot, they will have symptoms related to the clot. Signs and symptoms will depend on where in the body the blood clot is. […] Deep vein thrombosis (DVT) is a blood clot in the deep veins of the arms or legs. Signs and symptoms of DVT include: Pain, Limb swelling, Redness, Warmth. […] A pulmonary embolism (PE) is a blood clot that has broken off from a larger blood clot and travelled to the lung. Signs and symptoms of PE include: Chest pain, Shortness of breath, Blood while coughing, Fainting.
- #28 Azthena logo with the word Azthenahttps://www.news-medical.net/health/What-is-Factor-V-Leiden.aspx
Symptoms of Factor V Leiden can vary. Some people with the factor V Leiden mutation have multiple thrombotic episodes before the age of 30 years, while others never develop thrombosis. This variability is ascribed to the differences in the number of gene mutations in different individuals. […] The common symptoms of Factor V Leiden include: Having DVT or PE before the age of 50, Having recurring DVT or PE, Having venous thrombosis in the brain or the liver, Having DVT or PE during or immediately after pregnancy, A history of unexplained pregnancy loss in the second or third trimester, Family history of venous thromboembolism.
- #29 Factor V Leiden: Care Instructions | Kaiser Permanentehttps://healthy.kaiserpermanente.org/health-wellness/health-encyclopedia/he.factor-v-leiden-care-instructions.uf8198
Factor V Leiden is the most common inherited condition that causes an increase in blood clotting. It increases the chances that your blood will form abnormal blood clots that can be dangerous. Clots can form in the veins near your bones that carry a lot of blood (deep veins), a condition called deep vein thrombosis. A clot can travel through the blood to a lung and cause a serious problem called a pulmonary embolism. […] Call your doctor now or seek immediate medical care if: […] You have signs of a blood clot in your arm or leg. These may include: Pain in your arm, calf, back of the knee, thigh, or groin. Redness and swelling in your arm, leg, or groin. […] Call 911 anytime you think you may need emergency care. For example, call if: You have symptoms of a blood clot in your lung (called a pulmonary embolism). These include: Sudden chest pain. Trouble breathing. Coughing up blood.