A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5).

BACKGROUND/AIMS: Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder characterized by reduced plasma levels of low-density lipoproteins. It can be caused by mutations in the gene encoding apolipoprotein B-100 (apo B), leading to the formation of truncated apo Bs which have a reduced capacity to export lipids from the hepatocytes as lipoprotein constituents. Case reports suggest the occurrence of liver disease in FHBL, but there are no studies of liver involvement in FHBL with defined apo B gene mutations. The presence of fatty liver disease was investigated in a large FHBL kindred. METHODS: Plasma lipoprotein and apolipoprotein analysis, liver function tests, and apo B gene sequence were performed in 16 members of a FHBL kindred. The presence of fatty liver was assessed by ultrasound and computed tomography scanning. RESULTS: The proband, a non-obese heavy drinker male with hypobetalipoproteinemia, had steatohepatitis with fibrosis. He was heterozygous for a novel non-sense mutation of apo B gene producing a truncated apo B of 2745 amino acids (designated apo B-54.5, having half the size of normal apo B-100). Seven other members of his kindred carried apo B-54.5. Although all of them were hypolipidemic, their lipid levels showed a large inter-individual variability not accounted for by polymorphisms of genes involved in apo B metabolism. Four carriers (two heavy drinkers and two teetotallers), irrespective of their plasma lipid levels, had ultrasonographic evidence of fatty liver. In the other four carriers no evidence of fatty liver was found. CONCLUSIONS: In this kindred apo B-54.5 predisposes to fatty liver, which however may require some additional factors to become clinically relevant.

Ischaemic necrotizing pancreatitis after cardiac surgery. A case report and review of the literature.

Ischaemia is a rare but often lethal aetiology of pancreatitis. A 67-year-old man underwent aortocoronary by-pass. Postoperatively, he developed atrial fibrillation and possibly acute myocardial infarction. Later, he had acute pancreatitis and underwent laparotomy for purulent peritonitis due to a ruptured pancreatic abscess. Cholesterolosis was found but no gallstones. The postoperative period was heavily complicated and the patient eventually died due to multiorgan failure. The occurrence of ischaemic pancreatitis should be more readily suspected in patients with abdominal symptoms following surgery that induces ischaemia of the pancreas. It is possible that delay in diagnosis accounts for the high death rate of such postoperative complication.

Isolated jejunal Crohn's disease in a young adult presenting as fever of unknown origin.

A 27-yr-old man was referred for fever, weight loss, fatigue, and occasional mild epimesogastric pain without diarrhea or vomiting. Laboratory tests were suggestive of an active inflammatory disease but serological, bacteriological, viral searches, markers of autoimmunity, and neoplasia were all negative. The following were also negative: ultrasonography; conventional x-rays; CT scans; esophagogastroduodenoscopy, pancolonoscopy with ileoscopy; cytohistology including duodenum and ileocolon. Empiric antibiotic regimens failed to control the temperature. Small bowel enema disclosed multiple proximal jejunal strictures. Jejunoscopy revealed erythema, friability, linear ulcerations, stenosis, and dilation in the proximal jejunum. Multiple directed biopsies showed inflammatory changes devoid of any specific features. The patient received steroid treatment and his temperature normalized. Six months later, he was readmitted on account of intestinal subocclusion that was managed conservatively. A few days later urgent laparotomy was performed with peritoneal lavage, repair of double perforated proximal jejunal ulcers, and stricturoplasty. Surgical jejunal biopsy confirmed the results of enteroscopic biopsies. The patient is presently without fever, in the absence of steroid treatment. There have been no reports of cryptogenic fever due to isolated jejunal Crohn's disease in the recent literature. Our patient's clinical picture resembled disease as seen in older children and adolescents, in whom it is a difficult diagnosis owing to the absence of diarrhea. In adults with Crohn's disease isolated jejunal involvement represents approximately 1% of cases. A thorough small bowel investigation is warranted in young adults with cryptogenic fever and low serum protein levels, even in the absence of major gastrointestinal complaints.

The bright liver syndrome. Prevalence and determinants of a "bright" liver echopattern.

BACKGROUND: "Bright" liver at ultrasonography predicts fatty liver. AIM: To assess prevalence and predictors of a bright liver. METHODS: Prevalence arm--Prospective collection of records of unselected patients undergoing liver ultrasound. Protocol arm--A sample of patients with bright liver underwent routine laboratory investigations, liver tests, HBsAg (EIA) and anti-HCV (ELISA). Equipment--Grey scale real-time scanner. Bright liver diagnosed through the liver-kidney contrast. Statistics--Student's t-test; chi-square test; one-way analysis of variance; stepwise multiple logistic regression analysis, forward and backward. RESULTS: Prevalence arm--72 out of 363 (19.8%) cases had bright liver. Protocol arm--100 cases underwent laboratory evaluation. No difference was found in mean values of fasting plasma glucose, LDL cholesterol, apo A, Lp(a), uric acid, total bilirubin, GOT, GPT, AP, GGT, and serum bile acids or in the prevalence of serum HBsAg and anti-HCV in bright liver vs control groups. Univariate analysis showed body mass index, age, total cholesterol triglycerides, apo B, albumin, HDL cholesterol to be significantly different between cases and controls. However, the last 2 variables dropped out when logistic regression analysis was applied. CONCLUSIONS: 1. Roughly 20% of Italian patients undergoing US for routine clinical practice will have a bright liver. 2. Body mass index, age, serum cholesterol, triglycerides, and apo B levels are the independent predictors of a bright liver.