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 Table of Contents  
Year : 2016  |  Volume : 11  |  Issue : 4  |  Page : 236-237

A rare case of hereditary angioedema: C1 esterase deficiency syndrome

1 Department of Rheumatology, INHS Asvini, Colaba, Mumbai, Maharashtra, India
2 Department of Medicine and Clinical Immunology, Army HeadQuarters, UB Area, Bareilley, Uttar Pradesh, India
3 Department of Pulmonology, INHS Asvini, Mumbai, Maharashtra, India
4 Department of Medicine, INHS Asvini, Mumbai, Maharashtra, India

Date of Web Publication8-Nov-2016

Correspondence Address:
Dr. Anuj Singhal
INHS Asvini, Colaba, Near RC Church, Mumbai - 400 005, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0973-3698.193588

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How to cite this article:
Singhal A, Bhakuni DS, Tyagi R, Sharma AK. A rare case of hereditary angioedema: C1 esterase deficiency syndrome. Indian J Rheumatol 2016;11:236-7

How to cite this URL:
Singhal A, Bhakuni DS, Tyagi R, Sharma AK. A rare case of hereditary angioedema: C1 esterase deficiency syndrome. Indian J Rheumatol [serial online] 2016 [cited 2021 Apr 14];11:236-7. Available from:

Dear Editor,

Hereditary angioedema (HAE) is a rare autosomal dominant disorder occurring as a result of a deficiency of C1-inhibitor enzyme (C1-INH).[1] Most cases of HAE occur as a result of spontaneous mutations in the C1-INH gene.[2] Nearly 75% of patients with HAE have a family history while the rest may occur due to de novo mutations.[3] It can manifest as cutaneous swelling in nearly three-fourths of patients and as abdominal swelling in the rest. The mortality rate has been found to be as high as 30–40% in undiagnosed cases.[1] Here, we report a rare case of HAE that was diagnosed and managed effectively at our center.

A 22-year-old male presented with complaints of progressive swelling of the eyes, lips, and face for 2 days. The onset of swelling was sudden and associated with difficulty in breathing. There was no history of recurrent abdominal pain, or any preceding infection, trauma (including iatrogenic such as dental procedure), consumption of seafood or eggs, physical exertion, narcotic addiction, or mental stress. The patient reported a history of similar episodes in the past, and his first episode occurred 7 years ago. Those episodes were managed with oral and systemic steroids at different health care centers. He also reported a weight gain of 23 kg over the past 7 years. On examination, the patient appeared to be in respiratory distress. He had edema involving the bilateral eyelids, lips, and face [Figure 1]a. He also had soft-tissue swelling of the lips, tongue, and soft palate, with cyanosis; he was unable to maintain saturation at room air. The systemic examination was essentially normal.
Figure 1: (a) Patient at presentation. (b) Patient after treatment.

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The diagnosis of HAE type I or II should be suspected when a patient reports history of recurrent attacks of angioedema in the absence of wheals.[4] Based on the history of illness and results of blood C1-INH 0.04 g/L (0.21–0.39 g/L) and C4 values 2.29 mg/dL (10–40 mg/dL), our patient was diagnosed with type 1 HAE. He was managed with four subcutaneous adrenaline injections at a dose of 0.5 mL (1:10,000) over a span of 6 h. He was transfused with one unit of fresh frozen plasma every 12 h for 2 days. He also received adrenaline nebulization (1:10,000) and other supportive therapy. The patient was discharged on the 3rd day, with a marked improvement in symptoms [Figure 1]b. The patient refused long-term prophylaxis with androgens. At follow-up after 15 days, he appeared well and showed signs of good recovery; Pneumovax ® 23 was given as part of therapy and hepatitis B vaccine was advised. Repeat levels of c1-INH over 1 year remained low (0.04 g/L).

The management of HAE primarily involves treatment of acute attacks and prevention of future attacks.[1] Management involves three approaches: Acute treatment, short-term prophylaxis, and long-term prophylaxis.[2] It is vital to recognize the symptoms of HAE early and to prevent future attacks to reduce morbidity and improve quality of life of such patients.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent form. In the form the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.


We would like to acknowledge BioQuest Solutions Pvt. Ltd., for their editorial services.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Ghazi A, Grant JA. Hereditary angioedema: Epidemiology, management, and role of icatibant. Biologics 2013;7:103-13.  Back to cited text no. 1
Gower RG, Busse PJ, Aygören-Pürsün E, Barakat AJ, Caballero T, Davis-Lorton M, et al. Hereditary angioedema caused by c1-esterase inhibitor deficiency: A literature-based analysis and clinical commentary on prophylaxis treatment strategies. World Allergy Organ J 2011;4 2 Suppl: S9-21.  Back to cited text no. 2
Henao MP, Kraschnewski JL, Kelbel T, Craig TJ. Diagnosis and screening of patients with hereditary angioedema in primary care. Ther Clin Risk Manag 2016;12:701-11.  Back to cited text no. 3
Craig T, Aygören-Pürsün E, Bork K, Bowen T, Boysen H, Farkas H, et al. WAO guideline for the management of hereditary angioedema. World Allergy Organ J 2012;5:182-99.  Back to cited text no. 4


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