A 63 year‐old Female presented with a one day history of shortness of breath and pleuritic chest discomfort associated with a throbbing headache, hearing loss, rhinorrhea and nasal congestion. Of note, the patient returned from a trip to Greece 10 days prior to admission and had been treated with antibiotics for sinusitis and a urinary tract infection.
PMH was significant for hypertension diagnosed approximately six months prior to admission and former tobacco use. Medications included benazepril and metoprolol. Family history was significant for a sister and two nieces diagnosed with Factor V Leiden.
Physical examination was remarkable for labored breathing, bilateral scleral injection, sinus congestion and bilateral lower extremity pitting edema. Laboratory results showed WBC of 15.5; pro‐BNP of 1478. Urinalysis demonstrated >50 RBC, small leukocyte esterase, and moderate blood.
Chest CT angiography demonstrated scattered nodules within both lungs and a pulmonary embolism in the lateral sub‐segmental branch of the RLL pulmonary artery. Due to the severe headache and complaints of auditory impairment, a brain CAT scan was performed revealing sinus inflammatory changes with complete opacification of the right ethmoid/sphenoid sinuses. The patient was found to be heterozygous for Factor V Leiden mutation. Despite the diagnosis of Factor V Leiden, the clinical picture of sinusitis, rhinorrhea, bilateral sclera injection, recently diagnosed hypertension, microscopic hematuria and scattered lung nodules yielded a strong suspicion for GPA. Further testing revealed positive rheumatoid factor, positive c‐ANCA and positive proteinase 3 antibodies, compatible with GPA. VATS/wedge lung biopsy showed focal vasculitis of arteries and veins with ill‐defined granulomas and multinucleated giant cells; the cytology was negative for malignant cells. Renal function and hypertension worsened and the creatinine reached 4.48 before gradually improving. Renal ultrasound revealed increased cortical echogenicity along with hydronephrosis. The patient was treated with steroids and ultimately with cyclophosphamide; improved and was discharged with outpatient rheumatology follow‐up.
The WeCLOT Study reported a significant increase in the rate of VTEs in patients with GPA. A retrospective study by Allenbach et al found that VTEs occurred mainly during the active phases of the vasculitides. It has been theorized that GPA causes disruption of venous endothelium creating a microenvironment conducive to thrombosis formation. Santana et al demonstrated that GPA patients had a higher prevalence of in situ thrombosis and concluded that it might be a consequence of endothelial damage caused by ANCA and proteinase 3, which correlates with disease activity and causes apoptosis of endothelial cells yielding an increase in tissue factor levels and a decrease in thrombomodulin levels on the endothelial surface possibly contributing to the pro‐thrombotic state. Sebastian et al studied the frequency of Factor V Leiden in GPA patient and found that even though GPA patients had an increased frequency, these findings did not correlate well with increases in thrombotic events.
While there is established data to support a higher incidence of VTE among patients with Factor V Leiden and GPA independently and while there is literature illustrating a higher frequency of Factor V Leiden in patients with GPA, the association has yet to be fully understood and further research is warranted.
To cite this abstract:Amirian J, Agrawal M, Kainth M, Babalola O. Newly Diagnosed Granulomatosis with Polyangiitis and Factor V Leiden in a Patient Presenting with a Pulmonary Embolism. Abstract published at Hospital Medicine 2014, March 24-27, Las Vegas, Nev. Abstract 316. Journal of Hospital Medicine. 2014; 9 (suppl 2). https://www.shmabstracts.com/abstract/newly-diagnosed-granulomatosis-with-polyangiitis-and-factor-v-leiden-in-a-patient-presenting-with-a-pulmonary-embolism/. Accessed March 28, 2020.