#thrombophilia
Clinical, Molecular and Bioinformatic Study of Common Thrombophilia Mutation Factor V Leiden https://pubmed.ncbi.nlm.nih.gov/41479070/
January 3, 2026 at 2:39 PM
CVST occurred in 5.6% of cryptococcal meningitis (CM) patients🧠. No thrombophilia genes found, but 44 thrombosis genes were elevated🧬. MRI/MRV aids diagnosis🩻.##idsky
Cerebral Venous Thrombosis in Previously Healthy Patients with Cryptococcal Meningitis
Cryptococcal meningitis (CM) is a leading cause of fungal meningitis globally. Cerebral venous sinus thrombosis (CVST), though a recognized complication, has been rarely reported in both HIV-positive and HIV-negative individuals. This study investigates the incidence, clinical course, genetic factors, and neuroimaging features of CVST in a retrospective cohort of previously healthy, non-HIV CM patients.MethodsWe reviewed medical records of 89 immunocompetent CM patients admitted to the NIH Clinical Center between January 2005 and April 2024. CVST incidence, clinical course, neuroimaging, and laboratory data were analyzed. Genetic analysis was performed to detect any thrombophilia-associated variants. To explore thrombosis-related gene expression during neuroinflammation, cerebrospinal fluid (CSF) cells collected at the time of cryptococcal post-infectious inflammatory response syndrome (cPIIRS) diagnosis were subjected to single-cell RNA sequencing.ResultsCVST occurred in 5.6% (CI 1.9% - 12.6%) of CM patients, a rate comparable to bacterial CNS infections. No known pathogenic or likely pathogenic variants in known thrombophilia-associated genes were identified. However, 44 genes previously linked to thrombosis showed elevated expression—defined as ≥150 single-cell sequencing reads—in a cPIIRS patient.ConclusionCVST is a clinically significant and potentially treatable complication of CM, even in individuals without prior clotting abnormalities. MRI and MRV of the brain are valuable diagnostic tools. The absence of identifiable thrombophilia mutations suggests that neurologic infection itself contributes to thrombotic risk. Notably, CSF gene expression patterns may serve as biomarkers for CVST susceptibility. Future case-control studies may validate these findings and uncover genetic risk factors contributing to this severe complication.
academic.oup.com
December 25, 2025 at 11:30 AM
#Medsky🧪 #pedsky @thjournal.bsky.social
Routine thrombophilia testing in pediatric VTE is increasingly discouraged for provoked events due to limited clinical utility & lack of impact on outcomes
www.sciencedirect.com/science/arti...

link.springer.com/article/10.1...
Rethinking thrombophilia testing in pediatric VTE: A decade of real-world evidence
The clinical utility of routine thrombophilia testing to guide management in pediatric venous thromboembolism (VTE) is debated. This study sought to e…
www.sciencedirect.com
December 14, 2025 at 5:36 AM
Thrombophilia In Pregnancy: How To Manage Blood Clot Risks For A Healthy Future

With pregnancy comes huge life changes, both emotional and physical. One of the body’s natural changes is increased clotting of blood to minimize bleeding risks during childbirth. For most women, this change is…
Thrombophilia In Pregnancy: How To Manage Blood Clot Risks For A Healthy Future
With pregnancy comes huge life changes, both emotional and physical. One of the body’s natural changes is increased clotting of blood to minimize bleeding risks during childbirth. For most women, this change is beneficial. But for women with thrombophilia, a condition where the blood is more likely to clot, the risk can touch a danger zone, necessitating early detection and mindful clinical management of the condition.  Understanding Thrombophilia and Its Impact  Thrombophilia can be inherited through genetic traits or acquired later in life because of certain medical conditions. Often, it remains unnoticed in the absence of pregnancy, its effects can get more noticeable after a woman has conceived.  
10bmnews.com
November 30, 2025 at 11:25 AM
We’re back in the lab this week for more on thrombophilia testing! Don’t mind the loose snakes, they’re mostly friendly and Nick will have them rounded up shortly #hemesky #thrombophilia #theresnoplacelikelab

www.bloodyminded.com.au/allepisodes/...
Episode 70 - The Wizard of Clots | In the Lab: Thrombophilia Testing I — Bloody Minded
Lions and tigers and… thrombosis? Oh my! Join the Bloody Minded Crew on the yellow brick road to visit the emerald laboratory and see the wonderful wizard of clots - your friendly laboratory coagulati...
www.bloodyminded.com.au
November 26, 2025 at 7:50 PM
Clinical, Molecular, and Bioinformatic Study of Common Thrombophilia Mutation Factor V Leiden https://pubmed.ncbi.nlm.nih.gov/41273552/
November 24, 2025 at 11:03 AM
Clinical, Molecular, and Bioinformatic Study of Common Thrombophilia Mutation Factor V Leiden https://pubmed.ncbi.nlm.nih.gov/41273552/
November 23, 2025 at 8:44 AM
Genetic mutation you ask?

Yes.

If you've ever done the 23andMe DNA test, find the hereditary thrombophilia category in your results to see if any variants were detected.

I discovered this category AFTER I had already developed a blood clot in the hepatic vein in my liver.
November 21, 2025 at 8:52 PM
We’ve got tears, we’ve got a giant soapbox, we’ve got another episode out now! Have a listen to our evidence based feelings on thrombophilia testing wherever you get your podcasts! #hemesky #meded #thrombophilia #crying

www.bloodyminded.com.au/allepisodes/...
Episode 69 - I Have No Brain And I Must Test | Thrombophilia Testing — Bloody Minded
“HATE. LET ME TELL YOU HOW MUCH I'VE COME TO HATE YOU SINCE I BEGAN AS A HAEM REG. IF THE WORD HATE WAS ENGRAVED ON EACH NANO-ANGSTROM OF THE HUNDREDS OF MILLIONS OF CONSULT NOTES I HAVE WRITTEN IT WO...
www.bloodyminded.com.au
November 19, 2025 at 5:50 AM
ICYMI: Early clot recurrence or progression is not increased in children with genetic thrombophilia Preliminary results from the regional thrombophilia registry eight and ten
Early clot recurrence or progression is not increased in children with genetic thrombophilia Preliminary results from the regional thrombophilia registry eight and ten
Single or multiple trait thrombophilia are frequently determined in children with DVT. In these pediatric patients, detection of genetic thrombophilia did not predict early recurrence or progression of thrombus while on adequate anticoagula...
eurekamag.com
November 16, 2025 at 7:19 AM
Early clot recurrence or progression is not increased in children with genetic thrombophilia Preliminary results from the regional thrombophilia registry eight and ten
Early clot recurrence or progression is not increased in children with genetic thrombophilia Preliminary results from the regional thrombophilia registry eight and ten
Single or multiple trait thrombophilia are frequently determined in children with DVT. In these pediatric patients, detection of genetic thrombophilia did not predict early recurrence or progression of thrombus while on adequate anticoagula...
eurekamag.com
November 15, 2025 at 7:18 AM
People with severe allergies, dysautonomia, Ehlers-Danlos syndrome, thrombophilia, autoimmune diseases under treatment, low immunity, whether congenital or acquired, chronic cancer, etc. cannot participate in maintaining a body according to aesthetic standards without serious health risks.
November 2, 2025 at 11:04 PM
🤔 Wondering if you should get tested for thrombophilia while on a blood thinner? You’re not alone.

Join our November PEP Talk with Dr. Dana Angelini of Cleveland Clinic on Nov. 11 at 7 p.m. ET to learn when testing makes sense and what results mean for your care. Register: bit.ly/Nov2025PEPTalk
October 28, 2025 at 8:16 PM
Two-Stage Machine Learning Based Prediction of Thrombophilia Management https://www.medrxiv.org/content/10.1101/2025.10.22.25338547v1
October 23, 2025 at 5:41 PM
🎉 Congratulations to the 2025 World Thrombosis Day Award winners, whose leadership & creativity continue to elevate global awareness of thrombosis prevention! Read more about their impactful work: bit.ly/46GDftG

Don't forget to register for a WTD webinar on Thrombophilia Screening
bit.ly/4316Ifn
October 10, 2025 at 1:30 PM
⏰Pre-register for a pre-recorded @worldthrombosisday.bsky.social webinar on #thrombophilia screening & its appropriate use in global #thrombosis care w/speakers
🎙️Lana Castellucci 🇨🇦
🎙️@cihanaymd.bsky.social 🇦🇹
Registrants will receive the webinar via email on Oct. 12.
bit.ly/3KGSeLu
#WTDay25
October 9, 2025 at 2:15 PM
I'm risk factor 5.
(Factor V Leiden thrombophilia, a genetic disorder that increases the risk of forming abnormal blood clots, particularly deep vein thrombosis (DVT) in the legs and pulmonary embolism )

I can only take Tylenol ( acidaminophen)
September 23, 2025 at 11:18 AM
Factor V Leiden. Prothrombin mutation. Protein C/S deficiency. These inherited conditions can all increase clot risk, yet awareness remains low. 📉

Help us change that. Fill out the WTD Thrombophilia Survey today ➡️bit.ly/3VqPmEy
August 30, 2025 at 1:43 AM
Factor V Leiden. Prothrombin mutation. Protein C/S deficiency. These inherited conditions can all increase clot risk, yet awareness remains low. 📉

Help us change that. Fill out the WTD Thrombophilia Survey today ➡️bit.ly/3VqPmEy
August 30, 2025 at 1:42 AM
Testing for thrombophilia prior to starting HRT is not routinely required but if a woman has a strong/recurring personal history or family history of VTE, then this should be considered.
pubmed.ncbi.nlm.nih.gov/36573625/
Hormone replacement therapy in women with history of thrombosis or a thrombophilia - PubMed
Findings from the Women's Health Initiative (WHI) randomised placebo-controlled trial (RCT) were published at the beginning of this century. They suggested that hormone replacement therapy (HRT) use i...
pubmed.ncbi.nlm.nih.gov
August 26, 2025 at 9:01 PM
Proof positive of my shitty genetics
August 5, 2025 at 5:12 PM
Poll question for haematologists

Is there still a role for Activated Protein C Resistance testing in the assessment for thrombophilia, when FVL PCR is readily available?

1️⃣ YES
2️⃣ NO

Reply with number below.

#hemesky
August 1, 2025 at 10:14 PM
#PubSaludMurcia Hidden antithrombin defects: time to change and improve our thrombophilia diagnostic approach @Area6VegaMedia @DonarSangreMU
Redirecting
doi.org
August 1, 2025 at 10:02 AM
Patent Foramen Ovale (PFO) Closure in Thrombophilia as Primary Prevention in Patients Without Prior PFO-Associated Thromboembolic Events - Cureus: Patent Foramen Ovale (PFO) Closure in Thrombophilia as Primary Prevention in Patients Without Prior PFO-Associated Thromboembolic Events  Cureus
Patent Foramen Ovale (PFO) Closure in Thrombophilia as Primary Prevention in Patients Without Prior PFO-Associated Thromboembolic Events - Cureus
Patent Foramen Ovale (PFO) Closure in Thrombophilia as Primary Prevention in Patients Without Prior PFO-Associated Thromboembolic Events  Cureus
news.google.com
July 22, 2025 at 3:22 PM
Patent Foramen Ovale (PFO) Closure in Thrombophilia as Primary Prevention in Patients Without Prior PFO-Associated Thromboembolic Events - Cureus: Patent Foramen Ovale (PFO) Closure in Thrombophilia as Primary Prevention in Patients Without Prior PFO-Associated Thromboembolic Events  Cureus
Patent Foramen Ovale (PFO) Closure in Thrombophilia as Primary Prevention in Patients Without Prior PFO-Associated Thromboembolic Events - Cureus
Patent Foramen Ovale (PFO) Closure in Thrombophilia as Primary Prevention in Patients Without Prior PFO-Associated Thromboembolic Events  Cureus
news.google.com
July 22, 2025 at 9:23 AM