Hemorrhagic ascites associated with endometriosis. A case report.

BACKGROUND: Endometriosis associated with massive, bloody ascites is an unusual occurrence. This report draws attention to this condition as a complication of endometriosis, with the description of a case and a review of 31 others. CASE: A 41-year-old, black nulligravida with massive, bloody ascites and a pelvic mass underwent laparotomy, and an intraoperative microscopic examination ruled out malignancy. The histologic report was compatible with endometriosis. The patient was treated with a GnRH analog, with progressive reduction of ascitic fluid and full remission after six months. CONCLUSION: Bloody ascites should be considered a complication of endometriosis, especially in nulliparous women of childbearing age with abdominal distention, a pelvic mass, dysmenorrhea, abdominal pain, weight loss and eventual pleural effusion, suggesting a diagnosis of ovarian malignancy.

Are haemochromatosis mutations related to the severity of liver disease in hepatitis C virus infection?

It has been proposed that iron overload may adversely affect liver disease outcome. The recent identification of 2 mutations in the HFE gene related to hereditary haemochromatosis (Cys282Tyr and His63Asp) provided an opportunity to test whether they are associated with hepatic iron accumulation and the activity and severity of liver disease in hepatitis C virus (HCV) infection. We investigated the prevalence of HFE mutations in 135 male patients with chronic HCV hepatitis, and correlated genotype distribution with different parameters of iron status and the activity and severity of liver disease. Of these 135 patients, 6 (4.4%) carried Cys282Tyr and 32 (23.7%) carried His63Asp, frequencies which were similar to those observed in healthy controls. Serum iron levels and transferrin saturation (but not ferritin levels or liver iron content) were significantly higher in carriers than in non-carriers of HFE mutations. No difference was observed in serum ALT, AST and GGT levels between carriers and non-carriers. Finally, scores for necroinflammatory activity and fibrosis in the liver were significantly higher in HFE carriers than in non-carriers. Patients with chronic HCV infection carrying HFE mutations tend to present more evident body iron accumulation and a higher degree of necroinflammatory activity and fibrosis in the liver. HFE gene mutations might be an additional factor to be considered among those implicated in the determination of a worse prognosis of the liver disease in chronic HCV infection.

Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection.

OBJECTIVE: Porphyria cutanea tarda (PCT) is commonly associated with iron overload and hepatitis C virus (HCV) infection. Association between hemochromatosis C282Y or H63D mutations and PCT has been observed, although not uniformly, and iron overload is also commonly found in chronic HCV hepatitis. The aim of the present study was to investigate the frequency of C282Y and H63D mutations and HCV infection in Brazilian patients with PCT and their relationship with iron overload. METHODS: Twenty-three patients (19 men) aged 39.6 +/- 11.1 yr were studied. All had dermatological lesions of PCT and high levels of urinary uroporphyrin. HCV infection and iron overload were investigated. DNA samples were analyzed for the presence of HFE mutations. RESULTS: The frequency of C282Y was significantly higher in PCT patients than in 278 healthy individuals (17.4% vs 4%, odds ratio = 5.1, 95% confidence interval 1.5-17.6, p = 0.02), whereas no difference was observed regarding the H63D mutation (30.4% vs 31%, odds ratio = 1, 95% confidence interval 0.4-2.4, p = 1). Biochemical tests in PCT patients showed iron overload with transferrin saturation = 47.3 +/- 20.7% and ferritin = 566.8 +/- 425 ng/ml. Fifteen of 23 (65.2%) patients had HCV infection and alcohol ingestion was observed in 17 of 23 (73.9%). CONCLUSIONS: PCT patients exhibited evidence of iron overload, a high frequency of HCV, and an association with C282Y mutation. These data further support the notion that both acquired and inherited factors contribute to the occurrence of PCT, and indicate that screening for C282Y may be justified in PCT patients.

Abnormal uroporphyrin levels in chronic hepatitis C virus infection.

A strong association between hepatitis C virus (HCV) infection and porphyria cutanea tarda (PCT) has been observed, but the implications of the viral infection in the metabolism of porphyrins in patients without clinical manifestations of PCT are not known. The levels of porphyrin in plasma and uroporphyrin (URO) and coproporphyrin (COPRO) in 24-hour urine were measured in 156 patients with chronic HCV infection showing no clinical evidence of PCT. Levels of URO higher than the upper limit were observed in 35 of 156 patients (22.4%). The range and the mean values +/- standard deviation were 26-1,196 microg/24 hours and 82 +/- 204 microg/24 hours. Increased levels of COPRO and plasma porphyrin were observed in 12 of 156 patients (7.7%) and 2 of 156 patients (1.3%) respectively. There were no differences between patients with increased URO levels and patients with normal URO levels in terms of gender, age, risk factors for HCV infection, alcohol abuse, or hepatitis B viral infection. Transferrin saturation (p = 0.040), gamma glutamyl transpeptidase (p < 0.0001), aspartate aminotransferase (p = 0.006), and alanine aminotransferase (p = 0.040) were significantly higher in patients with abnormal URO than in patients with normal URO. The frequency of cirrhosis was higher, but not significantly different, in patients with increased URO (16.7%) compared with patients with normal URO (3.8%). The authors demonstrated that even without a clinical manifestation of PCT it is possible to detect abnormalities in the metabolism of porphyrins in patients with chronic HCV infection. The implications of these findings deserve additional investigation.

Esophageal dysfunction does not always worsen in systemic sclerosis.

Using the manometric method, we studied the progression of esophageal involvement in 17 women with a diagnosis of systemic sclerosis (SSc) and compared the results with those obtained for 14 healthy women. The manometric examination of SSc patients was performed twice, with an interval of 9 to 111 months (median, 40 months). All patients had peristaltic contractions in the proximal esophagus. Eight had peristaltic contractions, and 9 had no contraction in the middle and distal esophagus. The lower esophageal sphincter pressure and the amplitude of contractions in the esophageal body were lower in SSc patients than in controls. The duration of contractions was the same in SSc patients and controls. The velocity of peristaltic contractions did not differ between patients and controls in the distal esophagus, but was higher in SSc patients in the proximal esophagus. In 16 patients, no difference in lower esophageal sphincter (LES) pressure, esophageal contraction amplitude, duration, and velocity was observed between the first and second evaluation. In one patient, the distal esophageal contractions changed from peristaltic to completely absent, and the lower esophageal sphincter pressure changed from 20.2 mm Hg to 5.1 mm Hg. The results suggest that the esophageal involvement of SSc patients was not progressive in all cases.

Esophageal motility impairment in Plummer-Vinson syndrome. Correction by iron treatment.

We report the case of a 41-year-old woman with Plummer-Vinson syndrome and an esophageal motility disorder. She complained of dysphagia and odynophagia and had cheilitis, glossitis, and hypochromic anemia. An esophageal motility study showed low amplitude of contraction and high intrabolus pressure in the esophageal body. After iron replacement, the patient was free from symptoms, and a new motility study showed increased amplitude of contraction and decreased intrabolus pressure.

Abnormalities of the interdigestive migrating motor complex in a patient with carcinoid syndrome.

Intraluminal pressures of the gastric antrum, duodenum and jejunum were recorded for 206 min after a 12 h fast in a patient with carcinoid syndrome due to neoplasia of enterochromaffin cells of the ileum and with hepatic metastases. The most conspicuous alteration was a tachyrrhythmia of 16 waves/min predominating in the activity fronts of both duodenum and jejunum. Periods of 11-12 waves/min frequency appeared irregularly and the simultaneous occurrence of frequencies of 11 waves/min and 16 waves/min was also recorded. The gastric antrum was fully quiescent throughout the study. The alterations observed are presumed to be produced by substances secreted by the carcinoid tumor.

Polycystic hydatid disease (Echinococcus vogeli). Treatment with albendazole.

Six patients with polycystic hydatid disease (PHD) were treated with 10 mg kg-1 day-1 albendazole. One patient was treated continuously for eight months and another for three months. In three other patients treatment was discontinuous, consisting of a series of at least three 30-day cycles separated by 15 days without treatment. The last patient was treated continuously with 12 mg kg-1 day-1 albendazole for 51 days and then with three 30-day cycles of treatment with 10 mg kg-1 day-1 separated by 15-day drug-free intervals. Follow-up ranged from 10-30 months. Considerable clinical improvement and cyst reduction or disappearance occurred in four patients. Clinical improvement, but no changes in the hepatic alterations detected by computerized tomography, occurred in the other two patients, although a pulmonary cyst disappeared in one of them. Adverse effects were proteinuria, alopecia, leucopenia, itching and discrete elevation in aspartate transaminase, all of them reversed after the end of treatment. These results indicate that albendazole is effective for the treatment of PHD.

Gallbladder motor function in chagasic patients with megacolon and/or megaesophagus.

Gallbladder motor function was evaluated in 21 Chagasic patients with megacolon and/or megaesophagus and the results were compared with those obtained in 19 control subjects. Gallbladder contraction was evaluated by the radiologic method after the application of two different stimuli: an exogenous one consisting of intravenous injection of cholecystokinin octapeptide at the dose of 30 ng/kg over a period of 1 min, radiologic evaluation was performed before and 5, 10, 15 and 20 min after the stimulus; an endogenous one produced by standardised intraduodenal instillation of a lipid emulsion, radiologic evaluation was performed before and 3, 5, 10, 15, 20, 25 and 30 min after the beginning of intraduodenal infusion. The gallbladder of the Chagasic patients was found to be hypersensitive to both stimuli, since it contracted in a statistically more intense manner, with contraction starting earlier and lasting longer than among the controls. This difference in contracting behavior suggests impairment of the inhibitory intrinsic innervation of the gallbladder.

Effect of nifedipine on the lower esophageal sphincter pressure in chagasic patients.

The effect of 10 mg of sublingual nifedipine on the lower esophageal sphincter pressure (LESP) was studied by continuous perfusion manometry in 15 Chagasic patients and 9 controls. Resting LESP was lower in Chagasic patients (13.51 +/- 2.37 mmHg) than in controls (19.60 +/- 2.51 mmHg, P less than 0.02). Nifedipine caused a gradual decrease in the LESP in both Chagasics and controls. Maximal reductions occurred 50 minutes after the drug administration when LESP was reduced to 60% of the resting LESP in the control group and to 43% in the Chagasic group. These results indicate that the striking abnormalities found in the intramural plexuses of the alimentary canal of Chagasic patients do not affect the responsiveness of LESP to nifedipine, and that nifedipine may be useful to reduce LESP in Chagasic megaesophagus.

Esophageal dysfunction in patients with progressive systemic sclerosis and mixed connective tissue diseases.

Esophageal motility was studied in 37 patients with progressive systemic sclerosis (PSS), 12 patients with mixed connective tissue disease (MCTD) and 40 controls by the manometry method, using an open tube and continuous perfusion, and by radiological examination. Radiology was normal in 17 patients with PSS and five patients with MCTD, and abnormal in 15 patients with PSS and three with MCTD. The most frequent abnormality was slow transit time of barium. Manometry of the esophageal body was normal in 20 patients with PSS and six patients with MCTD, and abnormal in 17 patients with PSS and six with MCTD. Lack of contraction in the middle lower segments of the esophagus was the abnormality most frequently observed. Lower esophageal sphincter pressure was significantly lower among patients with PSS and MCTD than among the controls. Dysphagia was reported by ten patients with PSS and by six patients with MCTD. Radiology and manometry showed similar changes in PSS and MCTD, but dysphagia was more frequent among patients with MCTD.