Introduction
Hereditary angioedema(hereditary angioedema) is a disease with a family history that repeatedly causes acute localized edema of soft tissue. It is an autosomal dominant inheritance, and its seizures are related to minor trauma, mood swings, infections, sudden changes in temperature, and menstruation and estrogen-type contraceptives.
Cause
(1) Causes of the disease
Hereditary angioedema is an autosomal dominant genetic disease. The cause is in the patient's serumC1 lipase inhibitionFactor (an α2 globulin) is reduced or functionally deficient, resulting in over-activation of C1, uncontrolled C4 and C2 cleavage, and increased production of complement kinins, resulting in increased microvascular permeability and edema.
(two) pathogenesis
The disease is caused by a decrease in C1 esterase inhibitor levels (85%) or dysfunction (15%) and is autosomal dominant. Mainly due to the lack of C1 esterase inhibitor (85%) or non-function (15%), the amount of activated C1-(esterase) produced in serum is too high, which enhances vascular permeability and affects the production of Hageman clotting factor. Skin, respiratory and gastrointestinal mucosal edema and bleeding.
symptom
[clinical manifestations]
Repeated episodes of acute skin and mucous membrane edema.
1 repeated subcutaneous edema of the face, neck, trunk and limbs. It often occurs when there is a partial minor injury. Sudden onset, local pain, no itching, no obvious flushing, generally lasting 48 to 72 hours after natural relief.
2 can occur in the throat, respiratory tract mucosal edema. Difficulty breathing, hoarseness, suffocation, and abdominal pain, diarrhea, nausea, vomiting and other symptoms.
[Diagnostic points]
1. Infancy onset, often family history.
2. Occurs in the face, limbs, gastrointestinal and external genital areas.
3. Sudden onset of localized, non-inflammatory and non-depressive subcutaneous edema with a skin tone. No symptoms, swelling for more than 1 to 3 days, without urticaria.
4. Often accompanied by recurrent abdominal cramps, vomiting and abdominal distension, watery diarrhea. Abdominal tenderness, but no muscle rigidity and rebound tenderness.
5. Occasionally, suffocation may result from edema of the throat.
6. Laboratory examination: C1 esterase inhibitor (C1inh) is lacking or decreasing, and serum C2 and C4 levels are also low.
Most patients have a family history. It is characterized by recurrent episodes of skin, respiratory tract and digestive tract mucosa with localized non-depression edema, such as eyelid edema, lip edema, laryngeal edema or abdominal pain; there is obvious self-limiting, natural relief in 48-72 hours; edema may occur Emotional fluctuations, menstruation, fever and trauma are induced; accompanied by nausea, vomiting and abdominal pain, can be caused by suffocation of throat edema, if not treated, the mortality rate can be as high as 28%; without itching and urticaria; antihistamines and Corticosteroid therapy is ineffective.
diagnosis
The disease should be distinguished from urticaria. According to the deep edema of the skin, there is no fever, the local lymph nodes are not swollen, and there is no heat or tenderness in the skin lesions. The sudden onset of the disease can be diagnosed and can be combined with erysipelas or Cellulitis is differentiated.
complication
Common complications of the disease: often involving the eyelids, lips, tongue, external genitals, hands, feet and other parts, with early digestive tract or respiratory symptoms.
treatment
1. tranexamic acid, 1 ~ 3g / day, 3 times orally.
2. Antihistamine drugs, such as chlorpheniramine, diphenhydramine, dechloramphenicol, etc.
3. Corticosteroids can be taken orally with oral cortisone, hydrocortisone intravenously, dexamethasone orally or intravenously.
4. Enter normal human plasma to temporarily supplement C1 lipase inhibitor.
5. Local cold wet compress.
6. When laryngeal edema occurs, immediately give epinephrine 0.5mg or ephedrine 15mg, intramuscular injection, and consider tracheotomy.
7. Assimilation hormones, such as danazol, dehydromethyltestosterone, and stanozolol, can induce the synthesis of C1 lipase inhibitors, thereby preventing seizures.
(a) treatment
General therapy
(1) Strengthening care and nutrition: to improve the patient's resistance and immunity.
(2) Prevention of infection: attention should be paid to isolation to minimize contact with pathogens.
2. Anti-infective therapy Because the body itself and functional defects, the body can not kill the infected bacteria, therefore, once the infection occurs, a broad spectrum of bactericidal antibiotics should be selected for the pathogen.
3. Immunization replacement therapy Defects of congenital conditioning system can cause some repeated infections, which can be corrected by applying fresh plasma, 10~20ml/kg each time, once a week or once every 2 weeks. For severely infected cases, the protein can be imported, and the effect of controlling the infection can be achieved by strengthening the conditioning effect on the pathogen and promoting the body's recognition, phagocytosis and clearance of the pathogen.
4. Special therapy
(1) long-term treatment: generally used for patients with frequent episodes and severe symptoms, or repeated facial, oral and pharyngeal symptoms. After the symptom is controlled, the dosage should be reduced, and the minimum effective maintenance amount should be used.
1 androgen: such as stanozol (constantan), danazol (alkynoxine oxazole) or stanozol (cone) and so on. Androgens increase functional C1 esterase inhibitor levels and C4 and C2 values. Danacazole (alkyrosterine isoxazole) has a weaker masculinization effect and is more suitable for female patients.
2 anti-fibrous solvents: such as aminocaproic acid and tranexamic acid (hemostatic acid). For children with severe developmental symptoms, patients with androgen therapy who are ineffective or unable to tolerate their side effects. Anti-fibrous solvents do not correct the abnormalities of the complement, but can control the occurrence of swelling. The amount of aminocaproic acid is 8 to 10 g/d in adults and 15 g/d in large doses. Those with a tendency to thrombosis or who have previously had an embolic vascular disease should be used with caution.
(2) Short-term preventive treatment: mainly used for patients undergoing surgery, especially oral surgery. If time permits, it is best to use androgen for 1 week before surgery or anti-fibrin solvent for 3 days. If there is not enough time, fresh frozen plasma can be infused before surgery.
(3) symptomatic treatment
1 acute laryngeal edema: the life-threatening acute laryngeal edema must be closely observed, if necessary, endotracheal intubation. It has been reported that the use of refined C1 esterase inhibitors for the treatment of acute laryngeal edema can be successful.
2 other: acute abdominal pain can be symptomatic treatment. Most patients with limb damage do not need urgent treatment. Mental comfort plays an important role in the treatment of acute and chronic patients.
(two) prognosis
Death can be caused by edema of the throat, and if not treated, the mortality rate can be as high as 28%.
prevention
For short-term prevention, it is best to use androgen like stanozolol or danazol, which can reduce the production of C1 inhibitors. Androgens have side effects on women and children, so these drugs cannot be used for a long time. However, intermittent use of a small dose can also make the patient relatively asymptomatic. Ipsirlon-aminocaproic acid (12-18 g/day) or supercaproic acid is less effective than male hormones. Strengthen care and nutrition: to improve the patient's resistance and immunity. Prevention of infection: attention should be paid to isolation to minimize contact with pathogens.
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