(Chest. 2007; 131:592-594)
© 2007 American College of Chest Physicians
Familial Churg-Strauss Syndrome in Two Sisters*
Naomi Tsurikisawa, MD;
Sonoko Morita, MD;
Takahiro Tsuburai, MD;
Chiyako Oshikata, MD;
Emiko Ono, MD;
Masami Taniguchi, MD;
Hiroshi Saito, PhD;
Yukiyoshi Yanagihara, PhD and
Kazuo Akiyama, MD
* From the Clinical Research Center for Allergy and Rheumatology, National Hospital Organization Sagamihara National Hospital, Sagamihara, Kanagawa, Japan.
Correspondence to: Naomi Tsurikisawa, MD, Clinical Research Center for Allergy and Rheumatology, National Hospital Organization Sagamihara National Hospital, 18-1 Sakuradai, Sagamihara, Kanagawa, Japan 228-8522; e-mail: n-tsurikisawa{at}sagamihara-hosp.gr.jp
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Abstract
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Churg-Strauss syndrome (CSS) is an uncommon systemic vasculitis with an increase in the number of eosinophils in the peripheral blood and tissues. Its pathogenesis is unknown, and there is no evidence that genetic factors influence susceptibility to this disease. We present a case of familial CSS in two sisters with atopic-type bronchial asthma and negative perinuclear anti-neutrophil cytoplasmic antibody results. We investigated the human leukocyte antigen typing of the sisters and their six living siblings but found no evidence for heritability of CSS. To our knowledge, this is the first report of familial CSS.
Key Words: asthma • Churg-Strauss syndrome • familial case • heredity • human leukocyte antigen
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Introduction
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Churg-Strauss syndrome (CSS) is a rare systemic vasculitis with an annual incidence of approximately 1.8 to 4.0 per 1 million people.123 The pathogenesis of CSS is unknown, and there is no evidence that genetic factors influence susceptibility to this disease. Moreover, until now no familial cases of CSS have been reported. We demonstrate here a rare familial case of CSS in sisters. We investigated the human leukocyte antigen (HLA) typing of the patients and their six living siblings to elucidate the heritability of CSS.
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Case Reports
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Case 1: The Eldest Sister
A 69-year-old woman had acquired moderate bronchial asthma at age 62 years that was complicated by sinusitis. She was atopic, with a positive IgE radioallergosorbent test result for house dust mite. At age 67 years, the patient’s asthma deteriorated and she was treated with systemic corticosteroids for several months. By age 68 years, her asthma was under control and she discontinued systemic corticosteroids. In May 2001, at age 69 years, she complained of slight fever, weight loss of approximately 8 kg within 4 months, paresthesia and paralysis of the lower legs and both hands, palpitations, dyspnea, and skin eruption. She had severe motor and sensorimotor neuropathy on both sides of feet and hands (manual muscle test [MMT] score 1 to 3), sinus tachycardia, pulmonary infiltration, purpura, and cardiac tamponade on echocardiography. Laboratory tests revealed a leukocytosis of 20,900/µL, 89.1% of which was eosinophils, and a negative perinuclear anti-neutrophilic cytoplasmic antibody (p-ANCA) result. Cardiac shock developed due to the cardiac tamponade. After she was treated with mechanical ventilation, we examined pericardial biopsies and samples of the pericardial effusion, which revealed extravascular eosinophilic inflammation. CSS was diagnosed in accordance with the criteria of the American College of Rheumatology4: asthma, eosinophilia (> 10%), paranasal sinusitis, pulmonary infiltrates on chest radiography (may be transient), extravascular eosinophils on biopsy, and mononeuritis multiplex or polyneuropathy. The presence of any four or more of these criteria yields a sensitivity of 85% and a specificity of 99.7% for distinguishing CSS from other vasculitic syndromes. After treatment with corticosteroids and cyclophosphamide, the pericardial effusion decreased and the pulmonary infiltration and skin eruption improved, but the severe motor and sensory neuropathy did not. The patient was treated several times with IV high-dose Ig,5 and the neuropathy improved remarkably to MMT score of 4 to 5.
Case 2: The Younger Sister
A 62-year-old woman had acquired severe asthma with sinusitis at age 43 years. At the time of diagnosis of the asthma, she was atopic, with a positive IgE radioallergosorbent test result for house dust mite. She was treated with systemic corticosteroids and frequently visited the emergency department. After therapy with fluticasone propionate was added, the patient had no exacerbations and was able to decrease her corticosteroids on alternate days. In April 2000, at age 60 years, 2 months after her corticosteroids had been decreased, the patient complained of paresthesia and paralysis (MMT score of 4) under both feet. She had a leukocytosis of 13,510/µL, 58.2% of which was eosinophils, and her p-ANCA result was negative. CSS was diagnosed in light of the presence of four of the six American College of Rheumatology criteria. She was treated with increased corticosteroids, and her neuropathy and eosinophilia improved.
Additional Family Studies
The two sisters had seven siblings, making a total of four females and five males. Eight siblings were still alive, but both parents were dead. The parents had had no known history of atopy; of the siblings, only one sister, the oldest, also had bronchial asthma and atopy. We analyzed HLA-A, HLA-B, HLA-DRB1, HLA-DQA1, HLA-DQB1, and HLA-DPB1 in the two CSS sisters and their six siblings (Table 1
). The two patients and their siblings gave written informed consent (a description of the study and informed consent forms are provided as on-line supplementary material). 
2 testing revealed no significant differences in the frequencies of any of the HLAs (p = 0.102 to 0.67).
In summary, we have demonstrated a rare case of familial CSS. It was not possible to explain the heritability of the disease from HLA typing. Further studies are needed to understand the etiology and pathogenesis of CSS.
Received for publication May 12, 2006.
Accepted for publication June 29, 2006.
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Abstract
Introduction
