|Year : 2012 | Volume
| Issue : 2 | Page : 83-85
Hereditary angioedema with recurrent lip swelling associated with hypothyrodism, rectal polyp, multiple apthous ulcer in sigmoid, and ascending colon
Dillip Kumar Dash, Mamata D Mohanty, Rath Birakishore
Department of Paediatrics, IMS and SUM Hospital, Bhubaneswar, India
|Date of Web Publication||27-May-2013|
Dillip Kumar Dash
Department of Paediatrics, IMS and SUM Hospital, Kalinga Nagar, Bhubaneswar - 751 003
Source of Support: None, Conflict of Interest: None
Hereditary angioedema (HAE) is an autosomal dominant condition having congenital deficiency of C1 inhibitor and is characterized by sub mucosal and subcutaneous edema of skin, larynx, and abdomen. The disease manifests itself primarily in the extremities, face, airway, and abdominal viscera. Occasional reports have appeared linking HAE with autoimmune diseases. We report a case of HAE presenting recurrent lip swelling, bleeding from lip, hypothyroidism, and rectal polyp with multiple aphthous in sigmoid and ascending colon. Serologic tests for rheumatologic and autoimmune diseases were negative. Proper diagnosis and treatment are essential as this condition sometimes becoming life-threatening due to potential airway obstruction. This case report demonstrates the complexity of diagnosing and treating HAE with unique combination features of recurrent bleeding from lip, hypothyroidism, and rectal polyp with multiple colonic aphthous ulcers.
Keywords: Angioedema, hypothyroidism, rectal polyp, urticaria
|How to cite this article:|
Dash DK, Mohanty MD, Birakishore R. Hereditary angioedema with recurrent lip swelling associated with hypothyrodism, rectal polyp, multiple apthous ulcer in sigmoid, and ascending colon. Indian J Allergy Asthma Immunol 2012;26:83-5
|How to cite this URL:|
Dash DK, Mohanty MD, Birakishore R. Hereditary angioedema with recurrent lip swelling associated with hypothyrodism, rectal polyp, multiple apthous ulcer in sigmoid, and ascending colon. Indian J Allergy Asthma Immunol [serial online] 2012 [cited 2022 Nov 30];26:83-5. Available from: https://www.ijaai.in/text.asp?2012/26/2/83/112553
| Introduction|| |
Hereditary angioedema (HAE), first described by Quincke in 1882,  is characterized by episodes of well circumscribed, no pitting sub-epithelial edema that primarily involves the extremities, larynx, face, and abdomen. , The condition is inherited as an autosomal dominant trait. The prevalence of HAE is around 1/100,000, involves almost all races.  We report a case of type 1 HAE who had recurrent lip swelling up to several times in a day with bleeding from it. HAE accounts for only 0.4% of angioedema cases; however, the specific diagnostic tests and high mortality rate associated with HAE deserve special attention. Many reports are there in the literature about the divorce manifestation of acute angioedema like acute laryngeal edema with severe respiratory obstruction, intestinal mucosal swelling presenting as acute abdomen. However, there are no reports of acute angioedema with recurrent lip swelling and bleeding, rectal polyp [Figure 1], aphthous ulcer of sigmoid, and ascending colon with hypothyroidism.
|Figure 1: Sigmoidoscopy showing multiple aphthous ulcer (above) and rectal polyp (below)|
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| Case Report|| |
A 13-year-old boy was admitted to SUM hospital with recurrent swelling of lip with bleeding from it [Figure 2]. There was a history of bleeding per-annum for which he was evaluated earlier having rectal polyp [Figure 1] by gastroenterologist. Interestingly, there were also multiple aphthous ulcer both in rectum and sigmoid colon [Figure 1]. The lip swelling, which was no pruritic and painless, up to several times in a day lasted for one to three days and gradually cleared. At 12 years of age, he had developed first lip swelling for which he had taken anti-histaminic and anti-allergic medication by local physician. The family history was unremarkable. On examination, anthropometry was normal for the age. Routine laboratory investigations were within normal limits. The patient was found to have normal antigenic C1 inhibitor (0.17 g/l, normal 0.15-0.35 g/l) and C4 (0.210 g/l, normal 0.10-0.40 mg/dl). The C1 inhibitor levels of these parents were within normal range (mother 0.28 g/l and father 0.32 g/l). Thyroid function test shows the features of hypothyroidism (free triiodothyronine (FT3) 3.81, normal 2.02-4.4, free tetraiodothyronine (FT4) 1.34, normal 0.93-1.7, thyroid stimulating hormone (TSH) 14.28, normal 0.270-4.20). Bleeding profile was within normal limit. Physical examination, echocardiogram, and laboratory investigations including, complete blood count, urinalysis, blood biochemistry, sedimentation rate were reported to be within normal limits. The present patient was admitted to the hospital because of concurrent or isolated severe lip swelling followed by bleeding from it [Figure 2]. The cause of bleeding may be due to swollen, dry, and cracked lip. In the present case, an acquired angioedema was less likely because of the age of the patient and the symptoms persisting since last 2 years. We did not find any symptom, physical or laboratory finding of autoimmune, lymph proliferative or neoplastic diseases during the 6 months follow-up. After proper evaluation as a case of recurrent HAE we have started hydroxychloroquine, methylprednisolone, rabeprasole, antihistaminic, and thyroid hormone. Despite all above combination of treatment recurrent attacks lip swelling and bleeding occurs frequently. Finally, he was treated successfully with dapsone and antihistaminic.
| Discussion|| |
Early diagnosis of angioedema is highly justified because morbidity may develop if the diagnosis is delayed. The diagnosis is augmented by a detailed past and family history, history of allergy to food, drug, and environmental factors. HAE is inherited as an autosomal dominant condition, which is two types. One form is manifested by the absence of C1 esterase inhibitor and the other by normal levels however, the enzyme is dysfunctional. The absence of or dysfunction of C1 esterase inhibitor allows uncontrolled activation of complement cascade, resulting in angioedema. Recently, an X-linked inherited angioedema has been described and named as type 3 HAE.  The acquired and hereditary forms can be differentiated from each other by quantification of C1q levels. The c1q level in the hereditary form is normal and the level is low in the acquired form. Initial investigations for urticaria and angioedema should include screening test for hematological abnormalities, infections, rheumatologic conditions, thyroid dysfunction, hepatic, and renal dysfunction. Other investigation may be carried out, depending on the patient's history and initial laboratory tests. Tests for thyroid antibodies should be considered. Despite a complete examination and extensive laboratory studies cause of chronic urticaria/angioedema is remains inconclusive. Angioedema generally lasts 6-48 h and occurs around 40% patients with urticaria.  It commonly involves the lips, eye lids, face, extremities, and genitalia in an asymmetrical manner. , Specific physical stimuli such as cold, exercise, heat or sweating may produce physical urticaria. Angioedema without urticaria occur in underlying complement disorder and laryngeal edema is common and a major cause of death. Food allergy and insect sting reactions can trigger acute angioedema. Importantly, a complete review of systems should be done to find out possible auto immune, connective tissue or lymphoproliferative disorders that may be associated with urticaria. Angiotensin converting enzyme (ACE) inhibitors sometimes associated with angioedema that typically involve the tongue.  Chronic urticaria has been associated with a number of diseases, especially auto-immune diseases particularly thyroid disorders are common. Thyroid auto-antibodies (anti-thyroglobulins and anti-microsomal anti-bodies) are found in 24% cases and thyroid dysfunction is found in 19%.  Systemic vasculitis, connective tissue disorders, mastocytosis, malignancy (gastrointestinal cancer, lung cancer, and lymphoma) and infections sometimes associated with angioedema.
The case described here presented with unique combination of manifestation with angioedema in resistance form that responds to dapsone.
| Acknowledgment|| |
The authors are thankful to Central Research Laboratory, IMS, and SUM Hospital for the help for drafting of the manuscript. The author would like to thank the patient for providing consent to use his photograph in this article.
| References|| |
|1.||Quincke H. About acute circumscribed skin edema Monatsh Prakt Dermatol 1882;1:29-31. |
|2.||Fabiani JE, Paulin P, Simkin G, Leoni J, Palombarani S, Squiquera L. Hereditary angioedema: Therapeutic effect of danazol on C4 and C1 esterase inhibitors. Ann Allergy 1990;64:388-92. |
|3.||Witschi A, Krähenbühl L, Frei E, Saltzman J, Späth PJ, Müller UR. Colorectal intussusception: An unusual gastrointestinal complication of hereditary angioedema. Int Arch Allergy Immunol 1996;111:96-8. |
|4.||Zuraw BL. C1 inhibitor deficiency and autoimmunity. Immunol Allergy Clin North Am 1993;13:441-57. |
|5.||Nzeako UC, Frigas E, Tremaine WJ. Hereditary angioedema: A broad review for clinicians. Arch Intern Med 2001;161:2417-29. |
|6.||Kaplan AP. Urticaria and angioedema. In: Middleton E Jr, Reed CE, Ellis EF, editors. Allergy: Principles and Practice. 6 th ed., Vol. 2. St. Louis: Mosby-Year Book; 2002. p. 1537-58. |
|7.||Kaplan AP. Chronic urticaria: Pathogenesis and treatment. J Allergy Clin Immunol 2004;114:465-74. |
|8.||Mastalerz L, Setkowicz M, Sanak M, Szczeklik A. Hypersensitivity to aspirin: Common eicosanoid alterations in urticaria and asthma. J Allergy Clin Immunol 2004;113:771-5. |
|9.||Cicardi M, Zingale LC, Bergamaschini L, Agostoni A. Angioedema associated with angiotensin-converting enzyme inhibitor use: Outcome after switching to a different treatment. Arch Intern Med 2004;164:910-3. |
|10.||Kaplan AP. Clinical practice. Chronic urticaria and angioedema. N Engl J Med 2002;346:175-9. |
[Figure 1], [Figure 2]