A Rare Case of an Abdominal Aneurysm in a Patient with Lymphangioleiomyomatosis: A Case Report

A Rare Case of an Abdominal Aneurysm in a Patient  with Lymphangioleiomyomatosis: A Case Report

 

Iván Chérrez-Ojeda, MD, MSc, PhD(c)1,2; José Espinoza-Plaza, MD1,2;
Vincent Cottin, MD, PhD(c)3; Sofía Chérrez, MD2,4

Perm J 2019;23:18-170 [Full Citation]

https://doi.org/10.7812/TPP/18-170
E-pub: 03/22/2019

ABSTRACT

Introduction: Lymphangioleiomyomatosis (LAM) is a multisystemic disorder characterized by the proliferation, metastasis, and infiltration of smooth muscle cells in the lung and other tissues. Although LAM is rarely seen in men, it is usually detected in women during the third decade of life. Renal microaneurysms have been reported in patients with LAM, but abdominal aneurysms have not. We describe a patient with a diagnosis of LAM who had an unusual aneurysm in the inferior pancreaticoduodenal artery.
Case Presentation: A 47-year-old Ecuadorian woman self-referred for a routine visit to her family physician. She had a history of allergy to nonsteroidal anti-inflammatory drugs, pneumothorax, bilateral pleurodesis, and LAM since 2007. For her annual follow-up, an ultrasonogram was recommended. The abdominal ultrasonographic report described “a mass with blood flow in the midabdomen.” An abdominal computed tomography angiogram was performed and revealed a 2.6-cm aneurysm of the inferior pancreaticoduodenal artery. After diagnosis of arterial aneurysm, she underwent transcatheter arterial embolization and stent placement. She is currently healthy and carries out her activities normally.
Discussion: Lymphangioleiomyomatosis is a rare lung disease of unknown etiology. Extrapulmonary manifestations include abdominal aneurysm. This type of lesion should be added to a search for aneurysms in all patients with LAM.

INTRODUCTION

Lymphangioleiomyomatosis (LAM), a member of a family of neoplasms with perivascular epithelioid differentiation, is a multisystemic disorder characterized by the proliferation, metastasis, and infiltration of smooth muscle cells (SMCs) in the lung and other tissues. The disorder is thought to be caused by the loss of the tuberous sclerosis complex-2 (TSC2) gene heterozygosity in the chromosome 16p13.1 This loss produces an alteration in the function of tuberin, an activation of the mammalian target of rapamycin (mTOR), with the consequent overexpression of several kinases.1

This chronic disease can occur either sporadically or, in 13% to 40% of cases, is associated with tuberous sclerosis (TSC/LAM).1,2 Whereas LAM is rarely seen in men, in women it is usually detected during the third decade of life, with a prevalence ranging between 3 and 7.8 per million women.2 It is characterized by the presence of pulmonary cysts; however, other lesion sites are also identified in the kidneys (angiomyolipoma) and the lymphatic system (lymphangioleiomyoma).1 These findings are frequent in TSC and TSC/LAM, and particularly in these cases, the presence of intracranial,3 renal,4 lung,5 or abdominal aortic6 aneurysms have been reported. Champagnac et al4 have reported renal microaneurysms in patients with LAM; however, to our knowledge, abdominal aneurysms have not been associated with sporadic LAM.

We hereby present a case of isolated LAM that showed an unusual aneurysm in the inferior pancreaticoduodenal artery.

CASE PRESENTATION

Presenting Concerns

A 47-year-old Ecuadorian woman self-referred for a routine visit to her family physician. She had a history of nonsteroidal anti-inflammatory drug allergy, pneumothorax, bilateral pleurodesis, and LAM since 2003 (Table 1). The patient had no respiratory or abdominal symptoms at the time of the visit. Findings of her physical examination were unremarkable. As an annual follow-up, an ultrasonogram had been recommended.

The abdominal ultrasonogram report described “a mass with blood flow in the midabdomen.” Consequently, abdominal computed tomography (CT) angiography (Figures 1 and 2) was performed, and results revealed the following: “2.6 cm-sized inferior pancreaticoduodenal artery aneurysm which is being fed by the superior mesenteric artery and celiac circulation. The pancreas appears normal without evidence of stranding or free fluid.” Laboratory findings demonstrated a slightly increased amylase level (126 U/L [reference range: 25-125 U/L] [2.10 nmol/s L; reference range: 383.33-1416.67 nmol/s L]).
A diagnosis of arterial aneurysm was made.

Therapeutic Intervention and Treatments

The patient underwent transcatheter arterial embolization, with packing of mechanically detachable coils into the aneurysm, and stent placement. The procedure was tolerated without complications.

Follow-up and Outcomes

Stent monitoring, performed by CT angiography (Figures 3 and 4), and ultrasonograms were normal 4 years after the procedure. She is currently healthy and carries out her activities normally.

A Rare Case of an Abdominal Aneurysm in a Patient  with Lymphangioleiomyomatosis: A Case Report

A Rare Case of an Abdominal Aneurysm in a Patient  with Lymphangioleiomyomatosis: A Case Report

A Rare Case of an Abdominal Aneurysm in a Patient  with Lymphangioleiomyomatosis: A Case Report

DISCUSSION

LAM is a rare progressive disease of unknown etiology; it is characterized by cystic destruction of the lung caused by infiltration of SMCs, and it affects predominantly women typically in their reproductive years (average age at diagnosis = 41 years).2 Although, the main characteristic is pulmonary cysts, it is common to find (in more than two-thirds of patients) angiomyolipomas, lymphangioleiomyomas, and/or lymphadenopathy in these patients.7

The typical pathologic characteristics of LAM are hamartomatous proliferation of immature SMCs in the lymph nodes, lymphatic and blood vessels, and small airways. Primarily LAM affects the lungs and mediastinum.2 Therefore, the most frequent manifestations are dyspnea on exertion, pneumothorax, and chylous pleural effusion.1,8 Ansótegui et al8 have reported that pneumothorax appears in 39% to 81% of patients and recurs in 61% to 81%. Our patient had 3 pneumothoraces, without other symptoms, and a previous diagnosis of LAM. According to Oprescu et al,9 patients had an average of 2.2 pneumothoraces before the diagnosis of LAM. This is similar to what was found in our patient.

It is known that LAM is associated with TSC in up to 40% of patients.1,2 An uncommon finding, but which has been reported since 1971, are abdominal aneurysms in patients with TSC. The mean age at diagnosis of abdominal aortic aneurysms in patients with TSC has been 5 years (range = 0.5 months to 24 years).6 To our knowledge, the patient described in this report is the first patient with a pancreaticoduodenal artery aneurysm associated with LAM. We performed a MEDLINE search to identify reports of abdominal aortic aneurysms associated with LAM, and we did not find related articles. Abdominal aortic aneurysm has been reported only in TSC.6,10,11

The pathogenesis of abdominal aortic aneurysms in LAM is unknown to our knowledge, but in TSC they are likely caused by disorders of the connective tissue10,11 as a result of deficiency and fragmentation of elastic fibers associated with SMC proliferation12 and accumulation of mucopolysaccharides in arterial walls.13 Dysplastic features in addition to medial atrophy and focal medial disruption have been identified; furthermore, secondary intimal fibroplasia was more prominent than adventitial fibrosis, and intimal calcification had been described too.6 Also, dysplasia and medial atrophy contributes to the loss of aortic wall strength and aneurysm formation.6 However, all these findings were reported in infants, children, and young adults with TSC.6,12 In 2010, Cao et al12 reported an increase of the SMCs in the aortic media in a patient with a thoracoabdominal aneurysm and TSC2 mutation. Subsequently, they observed in mice that SMCs proliferated faster in the descending aorta than the ascending aorta because of their embryologic origin, a greater number of SMCs in the S/G2/M phase of the cell cycle, and the upregulation of mTOR and other kinases.12,14-16 All these contributed to the development of aortic aneurysms in mice that had an alteration of the TSC2 gene.12

Currently, in women, patients with chronic pulmonary disease, and tobacco users, abdominal aortic aneurysms are associated with growth and rupture risk17 (mortality > 80%18). Ultrasonography is a reliable method to determine the presence of asymptomatic aortic aneurysms (sensitivity ≥ 95% and specificity approximately 100%)19 and CT scans or magnetic resonance images have incidental findings of abdominal aneurysms in nearly two-thirds of patients who underwent these tests for other reasons.18 Abdominal CT or ultrasonography is recommended to evaluate and to follow-up for angiomyolipomas, which are found in about 40% of women with LAM.20 In our patient, timely screening to support abdominal abnormalities allowed us to detect early abnormalities and to use adequate treatment. The current case represents an atypical abdominal aneurysm in an adult patient with LAM.

CONCLUSION

LAM is a rare lung disease of unknown etiology. Extrapulmonary manifestations include abdominal aneurysm. We reported an unusual inferior pancreaticoduodenal artery aneurysm in a patient with LAM. Therefore, this type of lesion can be added in the search for aneurysms in patients with LAM.

Disclosure Statement

The author(s) have no conflicts of interest to disclose.

Acknowledgments

Kathleen Louden, ELS, of Louden Health Communications performed a primary copy edit.

How to Cite this Article

Chérrez-Ojeda I, Espinoza-Plaza J, Cottin V, Chérrez S. A rare case of an abdominal aneurysm in a patient with lymphangioleiomyomatosis: A case report. Perm J 2019;23:18-170. DOI: https://doi.org/10.7812/TPP/18-170

Author Affiliations

1 Universidad Espíritu Santo, Samborondón, Guayas, Ecuador
2 Respiralab, Respiralab Research Group, Guayaquil, Ecuador
3 Department of Pulmonology, University Hospital, Hôpital Louis Pradel, Lyon, France
4 School of Medicine, University of Heidelberg, Heidelberg, Germany

Corresponding Author

Iván Chérrez-Ojeda, MD, MSc, PhD(c) (ivancherrez@gmail.com)

References
1. Harari S, Torre O, Moss J. Lymphangioleiomyomatosis: What do we know and what are we looking for? Eur Respir Rev 2011 Mar;20(119):34-44. DOI: https://doi.org/10.1183/09059180.00011010.
 2. Johnson SR, Cordier JF, Lazor R, et al; Review Panel of the ERS LAM Task Force. European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis. Eur Respir J 2010 Jan;35(1):14-26. DOI: https://doi.org/10.1183/09031936.00076209.
 3. Boronat S, Shaaya EA, Auladell M, Thiele EA, Caruso P. Intracranial arteriopathy in tuberous sclerosis complex. J Child Neurol 2014 Jul;29(7):912-9. DOI: https://doi.org/ 10.1177/0883073813492386.
 4. Champagnac J, Melodelima C, Martinelli T, et al. Microaneurysms in renal angiomyolipomas: Can clinical and computed tomography features predict their presence and size? Diagn Interv Imaging 2016 Mar;97(3):321-6. DOI: https://doi.org/10.1016/j.diii.2015.12.004.
 5. Dunet V, Qanadli SD, Lazor R, Beigelman-Aubry C. Multiple pulmonary artery aneurysms in tuberous sclerosis complex. BMJ Case Rep 2013 Jan 21;2013. DOI: https://doi.org/10.1136/bcr-2012-007911.
 6. Jost CJ, Gloviczki P, Edwards WD, Stanson AW, Joyce JW, Pairolero PC. Aortic aneurysms in children and young adults with tuberous sclerosis: Report of two cases and review of the literature. J Vasc Surg 2001 Mar;33(3):639-42. DOI: https://doi.org/10.1067/mva.2001.111976.
 7. Avila NA, Kelly JA, Chu SC, Dwyer AJ, Moss J. Lymphangioleiomyomatosis: Abdominopelvic CT and US findings. Radiology 2000 Jul;216(1):147-53. DOI: https://doi.org/10.1148/radiology.216.1.r00jl42147.
 8. Ansotegui Barrera E, Mancheno Franch N, Vera-Sempere F, Padilla Alarcon J. Lymphangioleiomyomatosis. Arch Bronconeumol 2011 Feb;47(2):85-93. DOI: https://doi.org/10.1016/j.arbres.2010.08.008.
 9. Oprescu N, McCormack FX, Byrnes S, Kinder BW. Clinical predictors of mortality and cause of death in lymphangioleiomyomatosis: A population-based registry. Lung 2013 Feb;191(1):35-42. DOI: https://doi.org/10.1007/s00408-012-9419-3.
 10 Millar AJ, Gilbert RD, Brown RA, Immelman EJ, Burkimsher DA, Cywes S. Abdominal aortic aneurysms in children. J Pediatr Surg 1996 Dec;31(12):1624-8.
 11. Tamisier D, Goutiere F, Sidi D, et al. Abdominal aortic aneurysm in a child with tuberous sclerosis. Ann Vasc Surg 1997 Nov;11(6):637-9. DOI: https://doi.org/10.1007/s100169900104.
 12. Cao J, Gong L, Guo DC, et al. Thoracic aortic disease in tuberous sclerosis complex: Molecular pathogenesis and potential therapies in Tsc2+/- mice. Hum Mol Genet 2010 May 15;19(10):1908-20. DOI: https://doi.org/10.1093/hmg/ddq066.
 13. Beltramello A, Puppini G, Bricolo A, et al. Does the tuberous sclerosis complex include intracranial aneurysms? A case report with a review of the literature. Pediatr Radiol 1999 Mar;29(3):206-11. DOI: https://doi.org/10.1007/s002470050573.
 14. Eguchi S, Iwasaki H, Ueno H, et al. Intracellular signaling of angiotensin II-induced p70 S6 kinase phosphorylation at Ser(411) in vascular smooth muscle cells. Possible requirement of epidermal growth factor receptor, Ras, extracellular signal-regulated kinase, and Akt. J Biol Chem 1999 Dec 24;274(52):36843-51.
 15. Manning BD, Tee AR, Logsdon MN, Blenis J, Cantley LC. Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway. Mol Cell 2002 Jul;10(1):151-62.
 16. Sandirasegarane L, Kester M. Enhanced stimulation of Akt-3/protein kinase B-gamma in human aortic smooth muscle cells. Biochem Biophys Res Commun 2001 Apr;283(1):158-63.
 17. Schermerhorn M. A 66-year-old man with an abdominal aortic aneurysm: Review of screening and treatment. JAMA 2009 Nov 11;302(18):2015-22. DOI: https://doi.org/10.1001/jama.2009.1502.
 18. Ullery BW, Hallett RL, Fleischmann D. Epidemiology and contemporary management of abdominal aortic aneurysms. Abdom Radiol N Y 2018 May;43(5):1032-43. DOI: https://doi.org/10.1007/s00261-017-1450-7.
 19. LeFevre ML; US Preventive Services Task Force. Screening for abdominal aortic aneurysm: US Preventive Task Force recommendation statement. Ann Intern Med 2014 Aug 19;161(4):281-90.  DOI: https://doi.org/10.7326/M14-1204.
 20. Ryu JH, Moss J, Beck GJ, et al; NHLBI LAM Registry Group. The NHLBI lymphangioleiomyomatosis registry: Characteristics of 230 patients at enrollment. Am J Respir Crit Care Med. 2006 Jan 1;173(1):105-11. DOI: https://doi.org/10.1164/rccm.200409-1298OC.

Keywords: aneurysm, abdominal aneurysm, case report, lymphangioleiomyomatosis

Reprint Permissions

To obtain permission to republish, reprint, or adapt material published in The Permanente Journal, access and complete the Reprint Permission Form available at: https://www.permj.com/.

CME

The Kaiser Permanente National CME Program designates this journal-based CME activity for 4 AMA PRA Category 1 Credits™.

MEDLINE

27,000 print readers per quarter, 15,350 eTOC readers, and in 2018, 2 million page views of TPJ articles in PubMed from a broad international readership.



                                             

 

etoc emailClick here to join the eTOC list or text TPJ to 22828. You will receive an Email notice with the Table of Contents of each issue.

 

ISSN 1552-5767 Copyright © 2019 thepermanentejournal.org.

All Rights Reserved.