Rare bleeding disorder meets clotting gene in unusual case
Case report details how two opposing blood conditions combined in one person
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The rare coexistence of von Willebrand disease (VWD) type 3 and factor V Leiden (FVL) can put patients at risk for two opposite problems — severe bleeding and abnormal blood clots — requiring highly individualized management care, as shown in the case of a man in the U.S.
“These patients require special considerations in treatment that have not been well documented,” researchers wrote in “Left Renal Artery Thrombosis in a Patient With von Willebrand Disease Type 3 and Factor V Leiden Heterozygosity,” which was published in the Cureus Journal of Medical Sciences.
In VWD, the body cannot form blood clots properly, leading to abnormally heavy and prolonged bleeding. VWD type 3, its rarest and most severe type, results from mutations that leave patients with very little — or no — von Willebrand factor (VWF), a key protein needed for clotting.
It’s uncommon, but bleeding and clotting diseases can occur at the same time. For instance, FVL — a genetic disease that increases the risk of thrombosis (blood clots) — has been reported alongside VWD type 1. VWD type 3 has also been reported alongside deficiency in a natural anticoagulant called antithrombin III.
In this report, the researchers describe the case of a 41-year-old man with VWD type 3 who developed a blood clot in his left renal (kidney) artery. Having very low VWF usually protects against artery clots, making arterial thrombosis unusual in these patients. He was later found to have FVL.
Unusual blood clot in kidney sparks deeper investigation
The man went to the hospital with pain in his left side. He had been diagnosed with VWD type 3 as a child after frequent nosebleeds and elbow pain. He also had a large hematoma (a collection of blood inside the body, such as bruises) in his thigh as an adolescent. He had not received treatment for VWD in more than 10 years and reported recent heavy alcohol use.
CT scans revealed a renal infarct (where the blood supply to a part of the kidney was blocked). Doctors prescribed pain medication and advised him to stop drinking alcohol.
Blood tests for clotting came back mostly normal at first — an unusual result for VWD type 3, which typically prolongs clotting time. Later tests showed mild prolongation, prompting doctors to order additional testing for clotting diseases, including FVL. Genetic testing confirmed he had FVL.
Despite treatment, his kidney infarct worsened due to a blocked artery. He developed high blood pressure and a fast heart rate. Blood tests showed high numbers of white cells — which can happen due to inflammation, infection, cancer, or hereditary disorders — along with signs of acute kidney injury and very low VWF activity, consistent with VWD type 3.
He received VWF replacement therapy — which supplies the body with a functional version of the protein — along with the anticoagulant heparin and later apixaban (marketed under the brand name Eliquis and also available as generics). He experienced no bleeding complications while hospitalized.
However, during his hospital stay he developed a Pseudomonas bacterial infection and was treated with antibiotics. He also continued on VWF replacement and apixaban. After discharge, he developed pneumonia (an inflammation of the lungs caused by infection) and coughed up of blood on separate occasions during three weeks. He also has been experiencing weekly nosebleeds but has continued to work.
“This case highlights a rare but clinically significant intersection of severe bleeding and thrombophilic disorders [prone to form blood clots],” the scientists concluded.
