A 35-year-old female patient was admitted to the hospital because of fever, abdominal pain and abdominal distention.
The patient had a long history of ascites. Twelve years before admission, she applied to a hospital with complaints of diarrhea, nausea and vomiting. She did not have any abdominal pain at that time.
Abdominal ascites had been determined. She was evaluated but nothing could be determined about the etiology of peritoneal fluid collection. She claimed that she was put on an empirical antituberculous treatment with isoniazid, rifampicin, ethambutol and streptomycin.
On the fifth month of antituberculous therapy, she was admitted to the hospital because of massive ascites causing difficulty in respiration. In order to determine the etiology of the massive ascites, laparoscopy was performed and liver and peritoneal biopsies were obtained. It was reported that nothing specific for peritoneal tuberculosis was seen at laparoscopy. Liver biopsy result revealed normal findings; however, on peritoneal biopsy, fibrinous peritonitis was reported. Histopathological findings of the collected biopsies were not consistent with peritoneal tuberculosis. According to reports of the medical center, large volume paracentesis was done and around 15 liters of fluid were removed at that time. The antituberculous therapy was then discontinued and she was put on prednisolone (60 mg daily for 2 months and then with tapering doses for 3 years). At the end of the three years, since she had no ascites, prednisolone therapy was discontinued. She was then ascites-free and without any complaint for seven years.
She applied to our hospital because of abdominal pain with fever and abdominal distention. Her temperature was 38C, pulse 85/min., and respiration 18/min. Blood pressure was 100/70 mm Hg. On examination, the patient appeared well. Her head and neck were normal. Her lungs were clear and heart was normal. No palpable lymphadenopathy was detected. On abdominal examination, a fluid wave was noted, without any tenderness or guarding. There was no organomegaly. She had an erythematous, nontender, palpable skin lesion on the medial part of right ankle without swelling of any joints. There was no peripheral edema or digital clubbing. Neurologic examination was normal. Laboratory tests were performed. The blood chemical values including tumor markers were normal except for sedimentation rate and C-reactive protein (CRP).
An electrocardiogram showed a normal rhythm at a rate of 70/min. Radiographs of the chest revealed a normal heart and normal lungs. An ultrasonographic study of abdomen and pelvis showed massive ascites and bilaterally located ovarian cysts. There was a single gallstone of 10 mm in diameter within the gallbladder, without evidence of cholecystitis or dilatation of the common bile duct. The liver, spleen, kidneys and pancreas appeared normal. A Doppler ultrasound examination of the portal venous and hepatic venous systems was also normal without evidence of portal hypertension or Budd-Chiari syndrome. A computed tomographic (CT) scan of the abdomen and pelvis, obtained after the oral and intravenous administration of contrast material, showed bilaterally located ovarian cysts and massive septated ascitic fluid, but no thickening or opacification of mesentery, omentum or peritoneum. There were also no enlarged lymph nodes. A paracentesis was performed. Microscopic examination of peritoneal fluid showed mesothelial cells and neutrophils; no acid-fast bacilli, other microorganisms, or cancer cells were detected. A tuberculin skin test was positive (16 x 16 mm). A test for human immunodeficiency virus (HIV) antibodies was negative. Multiple cultures, including specimens of blood, urine and peritoneal fluid, were negative. Repeated ultrasonography of pelvis showed disappearance of most of the ovarian cysts after menstruation. Vaginal cytological examination revealed normal findings without cancer cells. There was no history of tuberculosis or exposure to the disease, hemoptysis, or use of alcohol or illicit drugs. During her follow-up, she had fever with peak values between 38.3 and 38.6C, together with abdominal pain. There was an increase in the results of synchronously checked CRP, sedimentation rate and white blood cell counts, and a decrease in serum fibrinogen level. Her temperature returned to normal after three days together with resolution of abdominal pain.
We performed explorative laparotomy of the abdomen, and found no evidence of tuberculosis, peritoneal mesothelioma or ovarian malignancy. Biopsies were obtained from mesentery and peritoneum, and lymph nodes were collected. Histopathological findings of those biopsies revealed fibrinous peritonitis. Tuberculous cultures of lymph nodes were negative. Amyloid protein deposition was not detected on biopsy samples.
The patient’s parents were cousins, and it was learned that her aunt’s daughter was diagnosed as FMF. When asked cautiously, she described childhood attacks of abdominal pain, swelling of joints (especially ankles), and erythematous skin lesions which disappeared in a few days.
She was screened for mutations causing FMF and was found to be homozygous for the M694V mutation by denaturing gradient gel electrophoresis. After the diagnosis of FMF by genetic testing and for 13 months after colchicine therapy, the patient has been free of any symptoms and free of ascites.
Table 1: Blood chemical values and hematologic laboratory findings
Table 2: Findings on paracentesis