Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Six patients in a family with a history of hereditary angioedema reported swelling of the extremities and recurrent abdominal pain occurring spontaneously or after trauma. Attacks of oedema involving the airways, the greatest danger with this disorder, were present only in one case. This autosomal dominant disease is due to deficient activity of the inhibitor of the first component of complement. Low levels of C4, and absence of C1 esterase inhibitor confirm the diagnosis. Two asymptomatic cases with the appropriate biochemical abnormality are reported in this study. For short term prophylaxis of attacks (before surgery expecially), fresh frozen plasma is used, or better still, C1 esterase inhibitor. For long term prophylaxis of attacks antifibrinolytic and hormonal drugs are used: in two cases, the authors obtained good results with methyltestosterone after failure of tranexamic acid.
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PMID:Diagnostic and therapeutic problems associated with hereditary deficiency of the C1 esterase inhibitor. 87 60

A large kindred (156 members) with hereditary angioneurotic edema is reported. 44 members of the family exhibit typical symptoms of the disease: recurring edemas of the skin and episodes of abdominal pain accompanied by vomiting due to mucosal edema in the stomach and intestine. In 32 patients complement studies were performed which in 28 cases revealed decreased levels of C1-inhibitor and almost normal values for C3 concentration. Among 21 members of the family who had never had symptoms of the disease, 7 also had low levels of C1-inhibitor. In 6 of 16 women, attacks often occur in conjunction with menstruation. In 9 of 10 women the symptoms of the disease had worsened during their first pregnancy. 8 patients have been successfully treated with tranexamic acid for 7-20 months.
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PMID:[Study of a large family with hereditary angioneurotic edema]. 121 11

In England, both a mother and her daughter either suffered their first attacks of hereditary angioedema around puberty or the disease worsened around puberty when estrogen levels were rising. The main symptoms included sudden swelling and reddening of the skin. The mother is the first reported case of exacerbated symptoms of hereditary angioedema occurring premenstrually. Use of a combined oral contraceptive (OC) (Femodene) exacerbated the daughter's symptoms. Symptoms improved after stopping the OC. The mother also experienced more severe and frequent attacks of symptoms while taking an OC. Acute attacks with abdominal pain diminished after OC cessation, but she still suffered edema and reddening of the skin. The daughter's C1 esterase inhibitor level was down to only .06 g/L in July 1988 and .09 g/L in December 1989. The mother's C1 esterase inhibitor level was 25% of normal levels. When another daughter was 4 years old she had a C1 esterase inhibitor level 25% of the normal range. The level of the same younger daughter in June 1990 was 22% of the normal range. The oldest daughter was treated with Stanozolol and the mother with Danazol. The youngest daughter received Terfenidine and experienced no symptoms thereafter. Unlike other women with hereditary angioedema, the mother did not experience worsening of symptoms during pregnancy. Danazol, a derivative of 17-alpha-ethinyl testosterone, significantly reduces plasma estradiol levels. It can increase C1 esterase inhibitor levels 3 to 4.5 times pretreatment levels and C4 levels 15 times. These cases and the literature led the dermatologists to recommend that clinicians should not administer estrogen-containing contraceptives to women known to have hereditary angioedema. It appears that progesterone-only contraceptives induce attacks of nonhereditary forms of angioedema. Much more research on the safety of hormonally-exacerbated, hereditary angioedema needs to be done.
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PMID:Hormonally exacerbated hereditary angioedema. 144 91

Hereditary angioedema is an uncommon clinical condition. Life-long episodic brawny and non-itchy swelling of the extremities, face and trunk, with episodic abdominal pain and familial occurrence are the typical features. Oedema causing obstruction of airways may lead to suffocation and even death. The diagnosis can be confirmed by finding low levels of C1 esterase inhibitor, C4 and C2. Therapy with synthetic androgenic agents can ameliorate the condition to a large extent.
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PMID:Hereditary angioedema in a family. 145 38

Hereditary angioedema (HAE), an autosomal disorder caused by a deficiency of C1 inhibitor, is characterized by attacks of localized swelling, laryngeal edema, or abdominal pain. Plasma samples from one pregnant patient were studied serially by functional and quantitative immunochemical assays as well as immunoblot assays for high molecular weight kininogen (HMWK) and/or prekallikrein/kallikrein (PK/K). An immunoblot of this patient's HMWK from plasma obtained before she became pregnant and when she was well revealed that it was mostly an intact protein of 120 kd, similar to immunoblot results of normal plasma HMWK. In plasma samples taken throughout her pregnancy, before, during, and after clinical attacks of angioedema, all of her plasma HMWK was shown to be cleaved into the 45 kd light chain form. After delivery of the infant the 120 kd form of intact plasma HMWK returned to her plasma. In comparison, immunoblot studies on 21 normal and abnormal pregnancies revealed that plasma HMWK was an intact protein at 120 kd. That this patient's plasma during her pregnancy was contact activated was determined by additional immunoblot studies for PK/K. Immunoblot assay for plasma PK/K revealed kallikrein-alpha 2-macroglobulin complexes and a 50 kd PK/K form seen only in activated plasma samples. The findings of kallikrein-alpha 2-macroglobulin complexes and a 50 kd PK/K form disappeared after delivery. These combined studies on this patient show that the structures of HMWK and prekallikrein as indicated by immunoblot assays were altered during pregnancy. Immunoblot assays for detection of changes in the structure of HMWK and prekallikrein may be objective laboratory studies for documenting clinical attacks of hereditary angioedema, their onset, and their resolution.
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PMID:Immunoblotting of plasma in a pregnant patient with hereditary angioedema. 168 10

Two clinical cases of recurrent abdominal pain are reported. These led to the unusual diagnosis of hereditary angioedema due to deficiency of C1 esterase inhibitor (C1-INH). The difficulties of identifying this genetic disease were caused by the variability of its clinical expression: the alteration of an autosomal dominant gene triggers angioedema attacks that may strike the cutaneous, gastroenteric and respiratory apparatus with differing intensity. Various subjects suffering from hereditary angioedema were found in the genealogical trees of the two patients, but all had extraintestinal symptoms of very variable intensity. Measurement of C4 and C1-INH made it is possible to identify in the first family a functional defect of C1 esterase inhibitor and in the second a quantitative defect in the same inhibitor.
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PMID:[Hereditary angioedema, a rare cause of recurrent abdominal pains. A report of 2 clinical cases and comments of a general nature]. 184 37

Hereditary angioedema is a rare disease, transmitted as an autosomal dominant trait. The disease usually manifests as acute subcutaneous or submucosal swellings and abdominal pain of two to five days duration. When localised to head or throat life-threatening edema of the larynx may occur. The disease is caused by reduced amount of active C1 inhibitor. The edema is not due to an allergic reaction and medication for such is of little or no value. Profylactic medication may be given when the attacks are frequent and ought to be given before dental extractions, intubation of the larynx, major surgery especially of the oropharynx, and births. The acute attack is best treated by intravenous injection of C1 inhibitor concentrate.
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PMID:[Hereditary angioedema]. 205 44

Hereditary angioedema is a rare autosomal dominant disorder due to the deficiency of functionally active C1-inhibitor. It is characterised by recurrent episodes of subcutaneous and mucosal edema. We report a case of hereditary angioedema presenting with the classic features of recurrent swelling of the extremities, abdominal pain and laryngeal edema. Serum complement C3 level was normal but C4 was low. She responded well to danazol and had no further attacks of angioedema.
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PMID:Hereditary angioedema: diagnosis and management. 237 84

A 33-year-old woman noticed recurrent and sudden attacks of subcutaneous swelling of the extremities and face since the age of 4 years. Sometimes the attacks involved colicky abdominal pain. Her mother and younger sister had episodes of recurrent swelling of the extremities as well. Complement studies revealed low CH50, C1q, C4, and C1 inhibitor levels, with normal C3 and C5 levels. Similar reductions of CH50 C4 and C1 inhibitor levels were observed in her mother, older, and younger sisters. Therefore, she was diagnosed as hereditary angioneurotic edema. In addition, she was diagnosed as having a butterfly rash at the age of 20 years and had a history of solar sensitivity. Histologically the facial lesion showed liquefaction degeneration of the basal cell layer. Direct immunofluorescent staining of the affected skin lesion showed basement membrane-zone staining of IgG and IgM. Laboratory studies revealed lymphopenia and positive ANF. On the basis of the above findings, hereditary angioneurotic edema associated with systemic lupus erythematosus was diagnosed.
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PMID:[A case of hereditary angioneurotic edema associated with systemic lupus erythematosus]. 258 84

Hereditary angioedema is a rare disease, transmitted as an autosomal dominant trait. The disease usually manifests as acute subcutaneous or submucosal swellings and abdominal pain of two to five days duration. When localized to head or throat, life-threatening edema of the larynx may occur. The disease is caused by reduced amount of active C1 inhibitor. The edema is not due to an allergic reaction and medication for such is of little or no value. Prophylactic medication may be given when the attacks are frequent and ought to be given before dental extractions, intubation of the larynx, major surgery especially of the oro-pharynx, and birth. An acute attack is best treated by intravenous injection of C1 inhibitor concentrate.
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PMID:[Hereditary angioedema]. 274 21


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