No abstract available.
Angioedema* ; Angioedemas, Hereditary* ; Complement C1 Inhibitor Protein* ; Complement C1s*

Hereditary angioneurotic laryngeal edema (HALE) is an autosomal dominant hereditary disease in which there is a decrease or defect in the C1 inhibitor (C1-INH). The pathophysiology of HALE is characterized by recurrent spontaneous episodes of transient edema of the laryngeal mucose and submucosal tissue with remission at irregular. Patients may die because of a life-threatening acute upper airway obstruction caused by laryngeal edema. HALE was diagnosed on the clinical symptoms, family history, and markedly decreased serum C1-INH activity and C1-INH protein.
Angioedemas, Hereditary ; diagnosis ; Complement C1 Inactivator Proteins ; analysis ; metabolism ; Complement C1 Inhibitor Protein ; Humans ; Laryngeal Edema ; diagnosis ; Recurrence

Hereditary angioedema (HAE) is a rare autosomal dominant disease that usually occurs in adolescence and early adulthood. It is characterized by recurrent non-pitting edema involving the skin and intestinal tract, especially the extremities and face. It is not associated with urticaria and pruritus. The cause is known to be the deficiency of C1 inhibitor. We herein report a 7-year-old girl with HAE who had recurrent episodes of swelling of the extremities and face without urticaria and pruritus. Her great grandmother had suffered from the same symptoms. The level of serum C4 was 8.01 mg/dL (normal: 10-40 mg/dL). The level of C1 inhibitor was 5.0 mg/dL (normal: 18-40 mg/dL). To our knowledge, this is the first pediatric case with typical clinical symptoms of HAE and C1 esterase inhibitor deficiency in Korea.
Adolescent ; Angioedema ; Angioedemas, Hereditary ; Complement C1 Inhibitor Protein ; Edema ; Extremities ; Humans ; Korea ; Pruritus ; Skin ; Urticaria

Angioedemas, Hereditary ; genetics ; Complement C1 Inhibitor Protein ; genetics ; Female ; Humans ; Middle Aged ; Mutation

Adult ; Angioedemas, Hereditary ; therapy ; Complement C1 Inhibitor Protein ; therapeutic use ; Female ; Humans ; Plasma

Angioedema is a well-demarcated localized edema involving the deeper layers of the skin, including the subcutaneous tissue. Angioedema occurs with Cl esterase inhibitor (Cl INH) deficiency that may be inborn as an autosomal dominant characteristic or may be acquired. Acquired angioedema (AAE) is a rare disorder characterized by adult onset and lack of evidence of inheritance of the disease. Two types of AAE are known today: type I in which there are lowering of functional Cl INH, an underlying disease such as a B-cell disease, and no detectable autoantibodies to Cl INH, type II with anti Cl INH autoantibodies in the circulation without detectable underlying disease and with depressed functional Cl INH levels. We experienced a case of angioedema in a 29-year old man. He had no family history of angioedema and laboratory data showed depressed Cl-INH levels. We diagnosed the case as acquired type of angioedema. Even though we could not measure anti-Cl INH auto-antibodies, we identified the case as type II because there was no evidence of underlying disease.
Adult ; Angioedema* ; Angioedemas, Hereditary* ; Autoantibodies ; B-Lymphocytes ; Complement C1 Inhibitor Protein* ; Complement C1s* ; Edema ; Humans ; Skin ; Subcutaneous Tissue ; Wills

We report a case of hereditary angioedema in a 48-year old female patient. She experidenced facial edema and dyspnea 5 to 6 times for a year. Similar episodes developed on some members of her family, especially her sisters and father. We examined her and her sister's serum complement levels. The results showed decreased levels of C1 esterase inhibitor and C4, compared to normal levels. We treated the patient with danazol effectively.
Angioedemas, Hereditary* ; Complement C1 Inhibitor Protein ; Complement System Proteins ; Danazol ; Dyspnea ; Edema ; Fathers ; Female ; Humans ; Middle Aged ; Siblings

OBJECTIVE: The etiology and pathogenesis of moyamoya disease remain unclear. Furthermore, the definitive diagnostic protein-biomarkers for moyamoya disease are still unknown. The present study analyzed serum proteomes from normal controls and moyamoya patients to identify novel serological biomarkers for diagnosing moyamoya disease. METHODS: We compared the two-dimensional electrophoresis patterns of sera from moyamoya disease patients and normal controls and identified the differentially-expressed spots by matrix-assisted laser desorption/ionization-time-of flight mass spectrometry and electrospray ionization quadruple time-of-flight mass spectrometry. RESULTS: We found and analyzed 22 differently-expressed proteomes. Two proteins were up-regulated. Twenty proteins were down-regulated. Complement C1 inhibitor protein and apolipoprotein C-III showed predominantly changed expressions (complement C1 inhibitor protein averaged a 7.23-fold expression in moyamoya patients as compared to controls, while apolipoprotein C-III averaged a 0.066-fold expression). CONCLUSION: Although our study had a small sample size, our proteomic data provide serologic clue proteins for understanding moyamoya disease.
Apolipoprotein C-III ; Biomarkers ; Complement C1 Inhibitor Protein ; Electrophoresis ; Humans ; Mass Spectrometry ; Moyamoya Disease ; Proteins ; Proteome ; Sample Size

BACKGROUND AND OBJECTIVES: Angioedema is a localized, nonpitting edema resulting from extravasation of fluid into the interstitial space. It usually develops suddenly and fades during the course of 24 to 48 hours. However, angioedema of the upper respiratory tract can result in serious acute respiratory distress, airway obstruction, and death. The purpose of this study was to analyze clinical characteristics of angioedema in the head and neck. SUBJECTS AND METHOD: A review of 144 patients with angioedema of the head and neck over 3-year period was conducted. RESULTS: The presumptive causes were 115 allergic reactions to food, drug, or environmental exposure, 3 losses of C1 esterase inhibitor, 1 angiotensin-converting enzyme inhibitor use, and 25 idiopathic conditions. The main locations of the edema were 100 face/lips, 4 oral cavity/oropharynx, 5 larynx/hypopharynx, and 35 multiple sites of the head and neck. Most of patients were treated with steroids and H1 and H2 blockers. All of 7 patients with low oxygen saturation and 14 out of 18 patients with hypotension on arrival were improved within 24 hours. There were 4 patients with airway distress treated with urgent airway intervention, three of them were completely recovered within 110-240 hours but one of them died of the disease. Patients with the cause of idiopathic and loss of C1 esterase inhibitor were found to stay longer in the hospital over 48 hours (p<0.05). CONCLUSION: Angioedema of the head and neck usually responds well to the treatment. However, there might be cases with life-threatening airway obstruction.
Airway Obstruction ; Angioedema ; Complement C1 Inhibitor Protein ; Edema ; Environmental Exposure ; Head ; Humans ; Hypersensitivity ; Hypotension ; Neck ; Oxygen ; Respiratory System ; Steroids

32 year-old male patient has experienced the repeated swelling of the skin on the eyelid, both hand, foot, lower and upper extrimities and testicle spontaneously without any trauma since 17 years old. This happening has subsided with or without treatment after 2-3 days. His great grandfather had suffered from the same events but grandfather or father or even his two brothers and one sister didn't have any swellings like him. Two days after this attack, he visited emergency room, his serum complement level was decreased such as C1q 9.7mg/dl (10-20mg/dl), C3 52mg/dl (55-120mg/dl), C4 4mg/dl (20-50mg/dl) measured by single radial immunodiffusion (SRID), but two weeks after full recovery, C1q 11.2mg/dl, C3 79mg/dl, C4 5mg/dl. The level of C1 esterase inhibitor was decreased upto 8.1 mg/dl (> 11 mg/dl) measured by nephlemeter(Mitshibishi Co., Japan). Now he is just under the close observation without androgen treatment because the attack of HAE(hereditary angioedema) happens much less and less severe after adolescence.
Adolescent ; Adult ; Angioedemas, Hereditary* ; Complement C1 Inhibitor Protein ; Complement System Proteins ; Emergency Service, Hospital ; Eyelids ; Fathers ; Foot ; Hand ; Humans ; Immunodiffusion ; Male ; Siblings ; Skin ; Testis