Concurrent Takayasu Arteritis With Common Variable Immunodeficiency and Moyamoya Disease

doi:10.1016/j.avsg.2012.09.003

Annals of Vascular Surgery

Volume 27, Issue 2, February 2013, Pages 240.e13-240.e18

https://doi.org/10.1016/j.avsg.2012.09.003 Get rights and content

Takayasu arteritis is a rare, chronic form of large vessel vasculitis that characteristically involves the aorta and its branches. Its origin and disease process are currently unknown, although T lymphocytes and, most recently, B cells are thought to play a role. Common variable immunodeficiency (CVID) is a collection of heterogeneous disorders resulting in an antibody deficiency and recurrent infections, and is the most common symptomatic primary immunodeficiency disorder. This report presents a unique case of possible Takayasu arteritis with a history of CVID in a young man admitted with multiple cerebrovascular accidents. Takayasu arteritis may serve as the main cause of this presentation. The rarity of this case is further accentuated by the presence of moyamoya disease. Finally, the possible disease process and novel treatment of Takayasu arteritis is discussed briefly.

Section snippets

Case Report

A 29-year-old Caucasian man with a history of childhood seizures and common variable immunodeficiency disorder (CVID), who was taking intravenous gamma globulin, was admitted for short-term memory impairment, difficulty talking and understanding, intermittent right eye blurry vision, right-sided facial droop, and upper extremity weakness. Vital signs revealed a left arm blood pressure (BP) of 159/63 mm Hg, a right arm BP of 92/50 mm Hg, a heart rate of 115 beats per minute, and a temperature of

Discussion

Takayasu arteritis is a rare, chronic large vessel vasculitis of unknown origin that typically affects women younger than 40 years.1, 2 The estimated incidence of Takayasu arteritis in the United States and Europe is 1 to 3 new cases per 1 million persons per year.² The disease is approximately 8.5 times more prevalent in women¹ and is more common in Asian populations.³ It typically involves the large vessels, including the aorta and its branches.⁴ Arterial calcification has been reported in

Conclusions

This case shows a rare and complicated presentation of possible Takayasu arteritis. The disease is approximately 8.5 times more prevalent in women¹ and primarily affects Asian populations.³ Arterial biopsy usually shows granulomatous and giant cell infiltration; however, both histology findings were absent.²⁰ Moreover, the presence of possible moyamoya disease further differentiates this case. Finally, this patient's history of CVID complicates the case, not only because of its possible

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Intra cranial granulomatous disease in common variable immunodeficiency: Case series and review of the literature
2018, Seminars in Arthritis and Rheumatism
Citation Excerpt :
On the other hand, in 50% of our patients the CNS granuloma was angiocentric and few patient did have a necrotizing vasculitis on histopathologic examination. To our knowledge, vasculitis in concordance with CVID is extremely rare with only few reports in the literature [12,31–33]. Whether the aberrant immune response in CVID predisposes to CNS vasculitis is possible giving the association of immunosuppression and other lymphoproliferative diseases such as Hodgkin's and non-Hodgkin's lymphoma and angio-immunolymphoproliferative lesions with primary CNS vasculitis [34].
Common variable immunodeficiency (CVID) is typically characterized by hypogammaglobulinemia and often but not always recurrent infections. Paradoxically, 8–22% of patients with CVID develop granulomatous disease. Granulomata have been described in many organs including the lungs, skin, liver, spleen, kidneys, eyes, lymph nodes, and intestines. Data about central nervous system (CNS) involvement in CVID are extremely rare. We aim to describe a case series and include an extensive literature review of CNS involvement in CVID to understand the different features and patterns of the disease.
We searched the English Pubmed database for relevant articles between 1950 and 2014 using the Key Words “common variable immunodeficiency”, “granulomatous disease”, “brain”, “sarcoidosis”, and “sarcoid-like syndrome”. Data from all case series, surveys, systematic reviews, and individual case reports, as well as retrospective studies were extracted. A total of 15 patients were reported in the literature. We combined our experience with four additional patients from The Cleveland Clinic between 2009 and 2014. Demographics, clinical features, laboratory and imaging findings, treatment and follow-up were extracted for the 19 patients and summarized descriptively.
Female sex and Caucasian race represented 63.2% (12/19), and 80% of the patients, respectively. The mean age of CVID diagnosis was 24 years; mean age when the CNS disease was diagnosed was 21.5 years. 68.4% of the patients (13/19) had granulomas involving ≥2 organs including the central nervous system, 31.6% (6/19) had CNS granulomas only. Associated granulomatous diseases occurred in lungs (72.7%), lymph nodes (27.2%), spleen (27.2%), eyes (18.1%), liver (18.1%), parotid glands (9%), and skin (9%).
Fifty-three percent (10/19) of the patients had documented recurrent infections, all of them being upper respiratory tract infections.
CNS manifestations included seizures (31.6%), headaches (21%), vision loss (15.7%), decreased cognition (10.5%), focal weakness (5.2%), nystagmus (5.2%), ataxia (5.2%), coma (5.2%), polyuria, and polydipsia (5.2%).
Brain mass was the most common radiologic finding (70%) followed by leptomeningeal enhancement (10%), non-specific white matter lesions (10%) and absence of normal signal of the neurohypophysis (10%).
Brain pathology was available in 12 patients: findings included granulomatous disease in 83.3%, angiocentric granulomas in 50%, vasculitis without granulomas in 8.3%, and lymphocytic infiltrate of the meninges with diffuse non-caseating granulomas in 8.3%. Cerebrospinal fluid analysis revealed elevated total proteins with/or without lymphocytic pleocytosis in 80%.
CNS disease is a rare challenging complication of CVID. Patients with brain involvement are generally female, Caucasian, and likely have lung involvement. Although immunoglobulin and steroids remain the first line of treatment, other immunosuppressive agents have shown some promise with regards to recurrent relapsing presentations.
Unique Case of Takayasu Arteritis with Severe Distal Aortic Stenosis and Iliac Thrombosis
2016, Annals of Vascular Surgery
Citation Excerpt :
Because of improvement in clinical presentation, laboratory, and imaging findings, prednisone continued to be slowly tapered. Takayasu arteritis is a rare, chronic large vessel vasculitis of undetermined etiology that primarily affects the aorta, aortic arch, and large vessels.1,2 Typical manifestation of this disease occurs before age 40,3 and it is approximately 8.5 times more common among females than males.4
Takayasu arteritis is a rare, chronic large vessel vasculitis of unknown etiology which predominantly affects women younger than 40 years of age. Symptoms are highly variable based on the location and extent of the stenosis, arterial occlusion, aneurysm, and thrombosis. Diagnosis is based on clinical presentation, relevant laboratory work-up, and imaging findings of wall thickening and stenosis of medium and large vessels. Management includes glucocorticoid therapy, frequently paired with adjunctive immunosuppressants, and sometimes surgical intervention in severe cases. Here, we present a unique case of Takayasu arteritis with critical distal aortic stenosis with very severe wall thickening involving the bilateral common iliac artery and leading to left iliac artery thrombosis. Based on our literature review, our article represents a very rare presentation of Takayasu arteritis with severe iliac artery thrombosis.
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Case ReportConcurrent Takayasu Arteritis With Common Variable Immunodeficiency and Moyamoya Disease

Section snippets

Case Report

Discussion

Conclusions

Am Heart J

Int J Cardiol

Adv Immunol

Clin Immunol

Ann Allergy Asthma Immunol

J Autoimmun

The American College of Rheumatology 1990 criteria for the classification of Takayasu arteritis

Arthritis Rheum

Takayasu arteritis in Japan

Heart Vessels Suppl

Aortic aneurysms in patients with Takayasu's arteritis: CT evaluation

AJR

Perforin-secreting killer cell infiltration and expression of a 65-kD heat-shock protein in aortic tissue of patients with Takayasu's arteritis

J Clin Invest

Case Report
Concurrent Takayasu Arteritis With Common Variable Immunodeficiency and Moyamoya Disease