Case Report

Splenic Flexure Aneurysm Secondary to Granulomatosis with Polyangiitis and Mayhegglin Anomaly

by Jessica Cox1, Devin B Haney2*, Varalaxmi Nannaka2

1School of Medicine, University of Texas Medical Branch, Galveston, TX, US

2Department of Internal Medicine, University of Texas Health Tyler, Tyler, TX, US

*Corresponding author: Devin B Haney, Department of Internal Medicine, University of Texas Health Tyler, Tyler, TX, US.

Received Date: 24 April 2024

Accepted Date: 29 April 2024

Published Date: 01 May 2024

Citation: Cox J, Haney DB, Nannaka V (2024) Splenic Flexure Aneurysm Secondary to Granulomatosis with Polyangiitis and Mayhegglin Anomaly. Ann Case Report 9: 1781. https://doi.org/10.29011/2574-7754.101781

Abstract

This case details a 64-year-old white male diagnosed with Granulomatosis with polyangiitis, complicated by the May-Hegglin anomaly and presenting with a severe gastrointestinal bleed. Hypotension and anemia prompted packed red blood cell and fresh frozen plasma administration, culminating in ICU admission for intubation and norepinephrine support. Despite spontaneous resolution at the splenic flexure, ongoing bleeding necessitated 11 units of packed red blood cells and an endovascular intervention. The patient's unique combination of Granulomatosis with polyangiitis and May-Hegglin anomaly, accentuated by a splenic artery aneurysm, represents a rare clinical entity. Granulomatosis with polyangiitis typically targets lungs and kidneys, with aneurysms seldom documented. This case is the first to report a splenic artery aneurysm in Granulomatosis with polyangiitis, further complicated by May-Hegglin anomaly.

The success of the endovascular approach, involving coiling the splenic artery aneurysm and a selective region of the inferior mesenteric artery, underscores its viability as a primary treatment for associated aneurysms in Granulomatosis with polyangiitis. This case emphasizes the importance of tailored interventions in managing complex medical scenarios, shedding light on the intricate interplay between May-Hegglin anomaly, Granulomatosis with polyangiitis, and splenic artery aneurysm.

Keywords: Granulomatosis with polyangiitis; May-Hegglin Anomaly; Splenic Flexure Aneurysm

Introduction

Granulomatosis with polyangiitis (GPA) is a rare and debilitating disease requiring immediate intervention, characterized by an immunologically mediated systemic small vessel vasculitis. [1] GPA exhibits an inflammatory reaction pattern presenting with necrosis, granulomatosis inflammation, and vasculitis, typically localized to the lower respiratory tract and kidneys. [1] The prevalence of GPA in the United States is estimated to be 3 cases per 100,000 people with 70-100% of cases involving the upper respiratory tract. [2] The exact etiology of GPA is unknown. Current hypotheses include: 1) environmental exposures to dust inhalation or silica (10% of cases); 2) autoimmunity via molecular mimicry; and 3) genetic predispositions. [3]

GPA is a clinical diagnosis made from clinical presentation with anti-neutrophil cytoplasmic antibody (ANCA) serology, necrotizing vasculitis, and granulomatous inflammation on histology providing support. [1] Other manifestations include oral ulcers, purulent or bloody nasal discharge, pulmonary nodules, fixed pulmonary infiltrates, pulmonary cavitary lesions, and microscopic hematuria with or without RBC casts.[1] The classic triad of vasculitis, necrosis and granulomatous inflammation can be observed in up to 16% of cases.[1]

Nonspecific constitutional symptoms of fever, weakness, and weight loss are observed in 50% of the population. [3] Other manifestations occur in various systems including ear, nose, and throat (ENT) with 70% of cases presenting with rhinorrhea, sinusitis, otitis media, or damage to facial cartilage. [3] Lung involvement can be observed in 50-90% of the cases with alveolar hemorrhage or parenchymal nodules. Common renal manifestations include focal segmental necrotizing glomerulonephritis associated with pauci-immune crescent formation observed in 40% of the cases. [3] Other systemic manifestations include ocular involvement (60%), the peripheral nervous system (33%), cardiac involvement (less than 10%), and gastrointestinal involvement (5-10%). [3] Gastrointestinal involvement typically presents with ulcerative lesions. [3]  

Early diagnosis is vital as 10-year survival rate is estimated to be 60-70% but can be as low as 40% with renal involvement. If left untreated, GPA has an 82% mortality rate at 1 year. [1] Treatment for GPA can be subdivided into induction and maintenance phases, with the induction phase involving systemic corticosteroids, cyclophosphamide, and glucocorticoids for 3-6 months followed by a maintenance phase with oral corticosteroids, azathioprine or methotrexate, and cotrimoxazole for 18-24 months. [3]

 May-Hegglin anomaly is a rare autosomal dominant disease due to a MYH9 gene mutation which is characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets, and variable thrombocytopenia. [4] The mutation occurs on chromosome 22q12-13 and encodes the non-muscle myosin heavy chain class IIA, a cytoplasmic protein present on many tissues including platelets. [4] This can cause macrothrombocytopenia secondary to defective megakaryocyte maturation and fragmentation.[4] Most patients are asymptomatic and do not experience bleeding complications. In rare cases, severe bleeding may be present and require platelet transfusion. [4] There are less than 100 cases reported in literature, and the exact etiology of this mutation is unknown. [4] Here, we present a case where granulomatosis with polyangiitis and May-Hegglin anomaly occur simultaneously leading to significant, uncontrollable blood loss.

We present the case of a 64-year-old white male diagnosed one month prior with granulomatosis with polyangiitis in the setting of May-Hegglin anomaly. The patient presents after experiencing four episodes of frank hematochezia. Vital signs on arrival showed a blood pressure of 73/61 mmHg and a pulse of 96 bpm with no other disturbances. Laboratory evaluation revealed a serum BUN of 49, serum creatinine of 1.6, normocytic, normochromic anemia with a hemoglobin of 7.4 mg/dl, and coagulation studies revealing PT of 12.8 and INR of 1.2. While in the emergency department, the patient had voluminous bowel movements consisting of clots and blood. He then received 3 units of packed red blood cells (PRBC) which raised his Hgb to 7.8. Due to resistant hypotension, intensive care was consulted for admission. Diagnosis on admission was hypovolemic shock secondary to gastrointestinal hemorrhage in the setting of Wegener’s granulomatosis with May-Hegglin anomaly. Upon arrival to ICU, patient was started on norepinephrine for pressure support. The patient then passed two more voluminous, bloody stools and was given 2 more units of PRBC, 1 unit of platelets, and 2 units of fresh frozen plasma. The patient’s blood pressure was poorly controlled despite continuous norepinephrine. DDAVP (desmopressin) was given upon admission, after which vasopressin was added as a secondary pressure agent. There was continued difficulty managing the patient’s bleeding and the patient was intubated in an elective fashion due to impending respiratory failure. Gastroenterology and interventional radiology were consulted and recommended a bleeding scan.

The nuclear bleeding scan revealed aneurysmal changes to the distal splenic artery with evidence of bleeding requiring coil embolization (figure 1,2). Selective catheterization of the branches of the superior mesenteric artery and inferior mesenteric artery revealed a bleeding diverticulum supplied by a distal branch of the inferior mesenteric artery which was subsequently embolized (figure 3,4). Post-procedural hemoglobin stabilized at 10.2, as did blood pressure. At this point in the hospital course, hematology was consulted to help manage this patient. The patient was then successfully extubated and blood pressure stabilized, holding vasopressin at time of extubation. Upon extubating, the patient had episodes of bloody bowel movements requiring an additional 2 units of PRBC and 1 unit of platelets; DDAVP was not given due to his factor VIII depletion.

 

Figure 1: Nuclear medicine imaging: Abnormal uptake which appears to begin within LUQ on/about foramen to progress in more distal LUQ, finally centering over region of iliac bifurcation.