Hyperferritinemia and non-HFE hemochromatosis: differential diagnosis and workup.

Hyperferritinemia is a common reason for referral to a hepatogastroenterologist. The most frequent causes are not associated with iron overload (e.g. inflammatory diseases, alcohol abuse, metabolic syndrome, etc.). However, hyperferritinemia can also be caused by a genetic variant in one of the iron regulatory genes, called hereditary hemochromatosis, often but not always associated with iron overload. A variation in the human Hemostatic Iron Regulator protein (HFE) gene is the most common genotype, but many other variants have been described. In this paper we discuss two cases of rare hyperferritinemia associated disorders, ferroportin disease and hyperferritinemia-cataract syndrome. We also propose an algorithm for evaluating hyperferritinemia, facilitating a correct diagnosis and preventing potentially unnecessary examinations and therapeutic actions.

Identification of quality indicators for the nutritional management of adult hospitalized patients by a modified Delphi process.

BACKGROUND AND OBJECTIVE: The aim of this study was to identify quality indicators (QI) that measure or evaluate the quality of nutritional management of the adult hospitalized patient irrespective of the primary disease or surgical condition. METHODS: During a modified Delphi procedure consisting of three rounds a 48 member expert panel selected quality indicators applicable to the subject focusing on validity and feasibility from a list of 89 candidate indicators, retrieved from the literature and completed by expert opinion. RESULTS: The following top ten of QIs were selected (weight between brackets): (1) Priority use of enteral route in the absence of contra indications (.95); (2) Patients with malnutrition (risk) receive a nutrition care plan or Nutritional Support (NS) (.935); (3) The hospital has a formulary on enteral formulas, parenteral nutrition (PN) solutions and nutritional supplements (.93); (4) The hospital has a designated nutrition support service (or team) (.922); (5) The hospital has written policies and procedures for the provision of nutrition support therapy (.9); (6) In hospitalized patients on PN the plasma triglycerides are checked weekly (.894); (7) Presence of a protocol for enteral drug administration through a feeding tube (.885); (8) Frequency of periodic reassessment of patients on NS (.883); (9) Enteral and PN orders are regularly revised and adjusted (daily/weekly/twice a week)(.88); (10) There is a hospital wide consensus on the screening method(s) for malnutrition (.88). CONCLUSIONS: Using a three round modified Delphi approach a list of ten best scoring QIs for the management of the adult hospitalized patient was established.

Ultrasonically guided fine needle puncture of focal liver lesions. Review and personal experience.

Despite recent advances in diagnostic imaging of the liver, the management of a patient with focal liver lesions often depends on obtaining tissue for histological diagnosis. Ultrasound guided fine needle biopsy is recommended as a safe and reliable method for cyto-histological confirmation of suspected hepatic malignancy. A fine needle is conventionally defined as having an outer diameter < or = 0.9 mm or > or = 19 G. Ultrasound guided fine needle aspiration cytology is found reliable for diagnosing malignancy. Limitations of this method are inadequate sampling and limited value in diagnosis of well-differentiated malignant tumours and benign tumours. Ultrasound guided fine needle cutting biopsy allows to obtain tissue for histological examination according to the Menghini technique. Both methods have high sensitivity, specificity and accuracy in detecting malignancy. In a personal series of 50 fine needle aspiration cytologies, a sensitivity for malignancy of 87% was obtained, with a specificity of 100%. The insufficient sampling rate, however, was 10%. Ultrasound guided fine needle trucut biopsy combines the advantages of a fine needle and a better sampling quality; a lower insufficient sampling rate can be expected without increase in complication rate. Despite the availability of numerous manually operated or (semi-) automated devices, little data have been published up to now on liver lesions. In our hands, it has proven to be a safe and reliable method, with low insufficient sampling rate, allowing correct identification of primary liver malignancies, correct suggestion of the primary source of the majority of metastases and correct identification of most benign liver lesions. Therefore it is considered as the method of choice when focal noncystic liver lesions are to be biopsied.

Fine needle trucut biopsy of focal liver lesions: a new technique.

A series of 77 ultrasound guided biopsies were performed in 72 patients with an ultrasonographically diagnosed focal liver lesion using a new semiautomated biopsy gun (Temno Biopty Gun) with a 21 G trucut needle. The rate of insufficient sampling was very low (1.5%), and more precise identification of malignant as well as benign lesions was possible when compared with the results of other fine-needle techniques available in the literature. No higher complication rate was noted. Our results show a sensitivity of 88%, a specificity of 100%, and an overall accuracy of 91% in identifying malignancy. Therefore we conclude that fine-needle trucut biopsy is a safe and accurate procedure combining the safety of the fine needle with the better sample quality of a large-bore needle biopsy technique.

Endoscopic treatment of biliary ascariasis. Report of a case.

Ascaris lumbricoides is the most common intestinal parasite to infect humans. The incidence of ascariasis is increasing in our regions, due to world travel and population migration. In one third of cases, the worm can enter the bile duct and cause cholangitis or biliary colics. Diagnosis and treatment of ascariasis are discussed. Endoscopic retrograde cholangio-pancreaticography (ERCP) with endoscopic extraction of the worm, using a Dormia basket, is a safe and effective procedure for the diagnosis and treatment of biliary ascariasis. This technique serves as an effective alternative for surgery.

The prevalence of colonic polyps in acromegaly: a colonoscopic and pathological study in 103 patients.

Patients with acromegaly are reported to be at risk of developing adenomatous colonic polyps, which are considered to be preneoplastic lesions. This assumption is, however, usually drawn from results obtained in rather small series of patients or without a control group. We, therefore, undertook a prospective colonoscopic and pathological study comprising 103 acromegalic patients and 138 nonacromegalic control subjects referred for irritable bowel syndrome. The prevalence of adenomatous colonic polyps was significantly increased in acromegalic patients compared to that in control subjects (22.3% vs. 8.0%; P = 0.0024). The significance was similarly present in male acromegalic patients (28.6% vs. 5.5% in male control subjects; P = 0.0026), but was absent in female acromegalic patients. The prevalence of colonic polyps was also significantly increased in the group of acromegalic patients under 55 yr of age (20.0% vs. 3.0% in the control group of the same age; P = 0.0026). Other characteristics of adenomatous colonic polyps in acromegaly were the multiplicity and the presence proximal to the splenic flexure. No difference in the duration of acromegaly was found between patients with or without adenomatous polyps. The prevalence of hyperplastic colonic polyps was also significantly increased to 24.3% in acromegalic patients vs 4.4% in control subjects (P < 0.001). In conclusion, in view of the increased incidence of adenomatous colonic polyps, colonoscopy should be part of the follow-up examination in acromegaly.

Prognosis of patients with non-malignant chronic intestinal failure receiving long-term home parenteral nutrition. Gastroenterology 1995; 108:1005-10.

Long-term survival of patients with intestinal failure requiring home parenteral nutrition (HPN) has not been clearly shown. The authors describe the survival of these patients and explore the prognostic factors. A total of 217 non-cancer non-AIDS adult patients presenting with chronic intestinal failure enrolled from January 1980 to December 1989 in approved HPN programs in Belgium and France. Data were updated in March 1991; not one of the patients was lost for follow up. The prognosis factors for survival are explored using multivariate analysis. During the survey 73 patients died, and the mortality rate related to HPN complications accounted for 11% of deaths. Probabilities of survival at 1, 3 and 5 years were 91%, 70%, and 62% respectively. Three independent variables were associated with a decreased risk of death: age of patients younger than 40 years, start of HPN after 1987, and absence of chronic intestinal obstruction. In patients younger than 60 years, included after 1983 and with a very short bowel (< or = 50 cm), (who could represent suitable candidates for small bowel transplantation) the 2-year survival rate was 90%, a prognosis that compares favourably with recent reports on survival after small bowel transplantation. In conclusion, HPN prognosis compares favourably with recent reports of survival after small bowel transplantation.

Ultrasound and duplex-Doppler in the diagnosis and follow-up of portal hypertension.

Ultrasound examination should be carried out as the first investigation in all patients with suspected hepatobiliary disease. It has a high accuracy in detecting signs of portal hypertension such as ascites, splenomegaly and collateral veins. The most common cause of portal hypertension in the Western world is cirrhosis. Although there is an overlap of ultrasound findings in normal liver, fatty liver, chronic liver disease with and without fibrosis, and cirrhosis, a correct diagnosis of cirrhosis by judgment of ultrasound findings is reported to be achieved in up to 80%. Diagnostic parameters used are size and outline of the liver, its reflectivity and attenuation of the echo-pattern. If used in combination with the Doppler duplex system, the information gained vastly increases. Areas where this technique is able to provide useful and reliable data have been defined in a consensus conference held in Bologna. Doppler flowmetry of hepatic vessels allows detection of presence, direction and characteristics of blood flow. The reliability of the quantitative measurements of blood flow in abdominal vessels is still questioned. When using the same equipment by skilled operators, however, duplex-Doppler data of the portal vein are of value in the assessment of the risk of variceal bleeding, in the evaluation of the progression of liver disease and in the evaluation of medical therapy for portal hypertension. Furthermore, the technique is of practical value in pre-and postoperative examinations for shunt surgery as well as in the pre-procedural work-up of transjugular intrahepatic portosystemic stent shunt (TIPS), during the TIPS procedure and in the post-TIPS followup.