1/21. celiac disease in a patient with a congenital deficiency of intestinal enteropeptidase. We report on a 40-yr-old man with both primary enteropeptidase deficiency and celiac disease. He suffered from severe intestinal malabsorption and growth failure as a child. enteropeptidase deficiency was found and pancreatic enzyme replacement therapy resulted in a growth spurt. enteropeptidase levels in his intestinal mucosa and intraluminal fluid remained very low throughout childhood and early adult life. celiac disease was confirmed by characteristic abnormalities in tests of intestinal function and in mucosal biopsies, which recovered when he instituted a gluten-free diet. He remains clinically intolerant to gluten as an adult. enteropeptidase levels have remained abnormally low whether or not his intestinal mucosa has been normal in response to gluten restriction. enteropeptidase levels have previously been shown to be normal in untreated celiac patients. The relationship between the two disorders remains unclear. ( info) |
2/21. Acute deep vein thrombosis in hospital practice. A recent cross sectional study on symptomatic acute deep vein thrombosis at the National University Hospital (NUH) in singapore found a frequency rate of 0.79 per 1000 patient admissions. A total of 39 patients were accrued over 18 months, 36 with deep vein thrombosis alone and three complicated by pulmonary embolism. No sex or ethnic predilection was observed in this cohort of hospitalised patients. Twenty-eight (71.8%) patients were 40 years or older. Majority (89.7%) of patients had at least two predisposing factors. While prolonged bedrest and operative procedures featured equally frequently in patients above and below 40 years, neoplasms were predominantly associated with the former and protein C or S deficiency primarily with the latter. The exhaustive laboratory confirmation of an inherent thrombotic tendency is recommended only for patients below 40 years of age. ( info) |
3/21. Free protein s levels are elevated in familial C4b-binding protein deficiency. In plasma, 40% of the protein s is free and functions as a cofactor for the anticoagulant effects of activated protein C. The remaining 60% of protein s is complexed to C4b-binding protein and is functionally inactive. A family with hereditary C4b binding protein deficiency has been identified with C4b-binding protein levels in an affected father and daughter of 37 micrograms/mL and 23 micrograms/mL, respectively; these values are significantly below the normal range for this protein of 180 micrograms/mL /- 44 micrograms/mL (mean /- 2 SD). The total protein s (free bound) is normal in these individuals (23.2 micrograms/mL and 17.8 micrograms/mL, respectively; normal 19.1 micrograms/mL /- 6.0 micrograms/mL). The free protein s levels are markedly increased at 22.5 micrograms/mL and 17.4 micrograms/mL, respectively (normal 5.9 micrograms/mL /- 2.4 micrograms/mL). This experiment of nature shows that total protein s levels in plasma are not affected by the absence of C4b-binding protein and that chronic elevation of free protein s is not associated with increased hemorrhagic tendencies. ( info) |
| We present a case of homozygous protein c deficiency with neonatal purpura fulminans and disseminated intravascular coagulopathy (DIC) starting shortly after birth. In addition, the infant had vitreal eye hemorrhages and intraparenchymal brain infarction, apparently as intrauterine events. Within 15 hours of institution of fresh frozen plasma (FFP) infusions the DIC resolved and the progression of purpura fulminans reversed. warfarin (0.4 mg/kg/day) was started on the fifth day of life, followed by gradual tapering of the FFP infusions. There were no recurrences of purpura, areas of skin necrosis healed without the need for skin grafting, and the areas of brain infarction resolved without apparent sequelae. The eye and brain lesions may be intrauterine events and appear to be a regular feature of this syndrome. family studies are essential to establish the diagnosis, although there may be no family history of thromboembolic events, as in this case. Homozygous protein c deficiency is a rare disorder, but one in which early recognition and intervention may be lifesaving. Ours is the youngest patient yet reported to be treated with warfarin anticoagulation. We were thus able to avoid the complications of long-term plasma therapy as well as the potential thrombotic complications of central venous catheter placement. ( info) |
5/21. Transient ischemic attack in a patient with congenital protein-C deficiency during treatment with stanozolol. A patient with congenital protein-C deficiency was treated with stanozolol for 8 weeks to increase circulating levels of protein C. A rise in protein C was achieved, accompanied by an increase in factor II, factor x, antithrombin iii, and protein s; but at the 8th week the patient suffered a transient ischemia attack. ( info) |
6/21. Familial type II protein c deficiency associated with warfarin-induced skin necrosis and bilateral adrenal hemorrhage. A family is described in which venous thromboembolic disease is associated with reduced plasma protein C activity and normal levels of protein C antigen. Immunoelectrophoretic analysis of protein C antigen gave an abnormal pattern in all affected members, suggesting that the disorder is related to the presence of a structurally and functionally abnormal form of protein C. The propositus developed simultaneous warfarin-induced skin necrosis and bilateral adrenal hemorrhage. This is the first reported instance of warfarin-induced skin necrosis associated with a dysfunctional protein C molecule and the first reported instance of simultaneous warfarin-induced skin necrosis and bilateral adrenal hemorrhage. ( info) |
| An infant presented at birth with a cutaneous lesion that developed the characteristics of purpura fulminans. He sustained a cerebral infarction during the first 4 days of life, which was initially misinterpreted to be cerebral hemorrhage resulting from thrombocytopenia and hypofibrinogenemia. After the diagnosis of protein c deficiency was made and effective replacement therapy begun, no further cutaneous lesions occurred. Although there was no evidence of further cerebral infarction, the initial insult progressed to severe encephalomalacia and cerebral atrophy. This disorder should be considered in infants with purpura fulminans or those with cerebral infarction, as prompt institution of transfusion therapy to replace the missing protein may prevent further damage. ( info) |
8/21. Angioimmunoblastic lymphadenopathy with disproteinemia associated with carcinoma. Case report and review of the literature. Angioimmunoblastic lymphadenopathy with disproteinemia (AILD) is a rare lymphoproliferative disorder. The clinical course varies and about 15-20% of the patients develop a malignant lymphoma. The association of AILD and carcinoma is very rare: only 4 cases have been reported in the literature. They are reviewed here and 1 case is described. This case is of special interest for the following reasons: (1) the exceptional length of time which elapsed between the diagnosis of AILD and the onset of an adenocarcinoma of the colon (118 months); (2) the long survival (the patient is still alive and well 140 months after the diagnosis of AILD); (3) unlike the cases reviewed, in our patient the carcinoma was diagnosed when AILD was in clinical remission, so a radical treatment was possible. In the cases previously reported, carcinomas arose in the lung (2 patients), pancreas (1 case), and stomach (1 case). The rare association of AILD and carcinoma is probably coincidental; however, the growth of solid tumors of nonlymphoid nature may be related to the impaired T cell function, and should be kept in mind in the management of patients with AILD. ( info) |
| Five type I protein C deficient male patients received 5 mg stanozolol b.i.d. during 4 weeks. After four weeks of treatment plasma protein C activity increased from 0.42 to 0.74 U/ml and protein C antigen from 0.49 to 0.75 U/ml. This approximately 1.6 fold increase in plasma protein C was accompanied by an increase in factor II antigen (1.5 fold), factor V activity (1.6 fold), factor x antigen (1.1 fold), antithrombin iii antigen (1.3 fold) and heparin cofactor ii antigen (1.5 fold), while the concentration of factor VII, factor viii, and factor ix activity, and of protein s antigen remained unchanged. prothrombin fragment F1 2, measured in two patients, increased 1.3 fold. In addition to its effect on procoagulant and anticoagulant factors stanozolol had profibrinolytic effects, reflected in an increase in tPA activity and in the concentration of plasminogen. These data indicate that in type I protein C deficient patients stanozolol increases the concentrations of both procoagulant and anticoagulant factors and favours fibrinolysis. The efficacy of stanozolol in preventing thrombotic disease in type I protein C deficient patients, however, remains to be established. During the four weeks of stanozolol treatment no thrombotic manifestations were observed in the protein C deficient patients. ( info) |
10/21. Hepatic hydrothorax is a relative contraindication to chest tube insertion. Two patients with known chronic ascites developed new massive right-sided pleural effusions. Chest tube placement led to massive protein and electrolyte depletion and death of both patients. patients who have cirrhosis and massive right-sided pleural effusions, in general, have congenital diaphragmatic defects that predispose them to life-threatening fluid depletion when chest tubes are inserted. Hepatic hydrothorax is a relative contraindication to chest tube insertion. ( info) |