A family with cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency presenting with aplastic anaemia.

Acquired aplastic anaemia is a rare disease, and occurrence in more than one member of the same family is uncommon. With this case report, we wish to highlight the importance of searching for an underlying genetic cause when this occurs. It may have consequences for future generations in affected families. CTLA4 haploinsufficiency is a heterogeneous disease entity with severe systemic immune dysregulation associated with several autoimmune diseases including aplastic anaemia.

Managing dyspepsia in the young adult patient: effects of different tests for Helicobacter pylori in a "test-and-scope" approach.

AIM: To evaluate how different methods for the detection of Helicobacter pylori influence on a "test, score and scope" decision approach in young dyspeptic patients. RESULTS: Complete data from 341 patients (52.2% males) were analyzed. One hundred and ten (32%) were H. pylori-positive by definition. The rapid serology test was true-positive in 64 patients, false-positive in 8, and false-negative in 46. For the EIA IgG serology test, the corresponding results were 99 true-positive, 7 false-positive, and 11 false-negative. If the H. pylori fecal test or urea breath test had been applied, 108 (98%) and 107 (97%) positives would have been correctly detected, respectively, as well as 14 and 7 false positives. Models using test data in a setting of decreasing H. pylori prevalence show that test properties have increasing significance. CONCLUSIONS: In a selection strategy for young dyspeptics based on the detection of H. pylori, the choice of test should be made with caution. H. pylori fecal test would probably give the best basis for such selection.

[A man with persisting fever, night sweats and high sedimentation rate]. / En mann med vedvarende feber, nattesvette og høy senkningsreaksjon.

BACKGROUND: Fever of unknown origin and high sedimentation rate are common clinical problems. MATERIAL AND METHODS: A middle-aged man with fever of unknown origin, night sweats and high sedimentation rate was referred to our hospital for investigation. RESULTS AND INTERPRETATION: The patient was suspected to have mononucleosis or reactivation of infectious mononucleosis because of mild anaemia and thrombocytopenia, a weakly positive IgM antibody test for Epstein-Barr virus and monocytosis (in peripheral blood). Because monocytosis, elevated sedimentation rate and fever persisted, bone marrow smears were prepared and biopsies taken.The third biopsy showed that morphology was consistent with chronic myelomonocytic leukemia (CMML), which was confirmed by two later biopsies. However, a malignant cell population (consisting of blasts in peripheral blood) was only found in one of several flow cytometry assessments of peripheral blood and bone marrow aspirate and cytogenetic analyses of bone marrow cells were normal. The patient's clinical situation has been stable for some years and treatment has not been necessary.

Do young dyspeptic patients consider upper gastro-intestinal endoscopy useful?

BACKGROUND/AIMS: Carefully planned strategies for selecting patients to upper gastro-intestinal (GI) endoscopy may reduce the number of procedures. However, the impact of the examination and the potential value of being reassured by a negative endoscopy has yet to be evaluated. METHODOLOGY: 280 young dyspeptic patients were classified to have either peptic ulcer disease, non ulcer dyspepsia (NUD), gastro esophageal reflux disease (GERD) with or without erosive esophagitis after upper gastro-intestinal endoscopy. At one year follow-up, the patients evaluated their symptoms and were asked what they considered the main reason for improvement, if any, when given six alternatives. RESULTS: 242 returned the one year follow-up questionnaire. 82% of the peptic ulcer group reported symptom improvement and the eradication therapy as the main reason for it. In the NUD group 63% had improved, weighting change in life-style and diet as the main reasons. Only 16% reported the reassurance by a negative endoscopy as important for improvement. The two GERD groups scored similar and recorded acid reducing medication as the far most important reason for improvement. CONCLUSIONS: Young dyspeptic patients, patients with peptic ulcer disease seems to be the only group where endoscopy has significant value for choosing the optimal therapeutic option. Neither the reassurance by a negative endoscopy in the NUD group nor the detection of esophagitis in patients with GERD is of importance to subjective improvement.

[50-year-old woman with elevated haemoglobin and iron deficiency]. / En 50 år gammel kvinne med høyt hemoglobinnivå og jernmangel.

BACKGROUND: Elevated haemoglobin and erythrocytosis are frequent causes for investigation. MATERIAL AND METHODS: A 50-year-old woman with elevated haemoglobin and erythrocytosis was referred to our hospital for investigation. RESULTS AND INTERPRETATION: She had elevated serum erythropoietin and iron deficiency. Mutational status of the JAK2 gene was negative with respect to polycythemia vera, and no secondary reasons for polycythemia - including tumours - were revealed. A bone marrow biopsy and bone marrow smear showed a moderately increased number of lambda- positive monoclonal plasma cells, and small amounts of lambda light chains were detected in the urine. Serum electrophoreses showed no gammopathy. The reason for her elevated haemoglobin could be an erythropoietin-producing tumour or an idiopathic erythrocytosis based on a mutation in exon 12 of the JAK2 gene. Investigation of her plasma cells revealed a 10-fold increase in erythropoietin mRNA expression, indicating the reason for her elevated serum erythropoietin and haemoglobin values.

[An 83-year-old woman with coma and severe hypernatremia]. / En 83 år gammel bevisstløs kvinne med hypernatremi.

BACKGROUND: Several cases of hypernatremia due to salt intoxication have been described. Paediatric patients and individuals with dementia or mental illness are those most commonly affected. It is a condition with a poor prognosis and a high mortality rate. MATERIAL AND METHOD: We present an elderly, demented woman who was admitted with coma and elevated serum sodium (223 mmol/L). Recent literature on the condition has been reviewed. RESULTS AND INTERPRETATION: On the basis of elevated serum sodium and urine sodium, normovolemia and normal diuresis, we concluded that hypernatremia was caused by salt intoxication. Our patient died a few hours after admittance. Recommended treatment is to maintain adequate diuresis with a loop diuretic, to and replace the ongoing fluid loss. Haemodialysis is an alternative if diuresis is inadequate. There is no consensus regarding type of replacement fluid or optimal rate of fluid replacement for hypernatremia due to salt intoxication.

[50-year-old man with fatigue and monoclonal gammopaty]. / 50 år gammel mann med slapphet og monoklonal gammopati.

This article presents an extremely rare case of monoclonal gammopathy of undetermined importance (MGUS) (known for 16 years) that progressed to multiple myeloma during cytotoxic treatment of malignant lymphoma. Morphological and immunochemical studies were used to characterize the two blood diseases. Identification of type 2 (malignant lymphoma) and type 1(multiple myeloma) disease indicate that the condition was biclonal. The malignant lymphoma responded completely to treatment with chlorambucil and the multiple myeloma responded partially to treatment with melphalan and prednisolone some months later. Diagnosis and follow up of MGUS is commented on.

[A 40-year-old woman with anemia]. / En 40 år gammel kvinne med anemi.

BACKGROUND: Normally the body is unable to regulate its own iron content effectively by excretion. Urinary excretion of iron is about 10% of total daily loss. CASE PRESENTATION: A 40-year-old woman was admitted to hospital because of anaemia that turned out to be caused by iron deficiency. In spite of extensive investigations no cause of her iron deficiency was identified. The urine was then tested for iron and showed excessive urinary loss as the cause of her anaemia. To our knowledge, extensive urinary iron loss as the cause of iron deficiency has not been reported before.

"Test, score and scope": a selection strategy for safe reduction of upper gastrointestinal endoscopies in young dyspeptic patients referred from primary care.

OBJECTIVE: To test the ability of pre-endoscopic clinical evaluation to predict clinically relevant findings of upper gastrointestinal endoscopy. MATERIAL AND METHODS: Patients (341) who had been referred to upper gastrointestinal endoscopy for further evaluation of dyspeptic symptoms were included in this prospective, single-blinded study. Prior to endoscopy, the patients underwent a standardized clinical evaluation consisting of 1) a symptom questionnaire, 2) serological testing for Helicobacter pylori antibody and 3) determination of blood hemoglobin. Based upon this evaluation, patients were assigned to one of three defined risk groups. Group A comprised patients with known risk factors for diseases that would require further therapeutic or diagnostic management. Patients in groups B and C had no such risk factors. Patients in group C had heartburn or regurgitation as a predominant symptom, whereas patients in group B did not. The prevalence of clinically relevant findings upon upper endoscopy was then compared for these three groups. RESULTS: The prevalence of clinically relevant endoscopic findings in risk groups A, B and C were 20.1, 2.4 and 1.6%, respectively (p<0.01 for both A versus B and A versus C). Furthermore, 89% of those with clinically relevant endoscopic findings belonged to group A, which comprised a total of 45% of the patients studied. In groups B and C, the prevalence of disease was similar to the area-specific prevalence in the general population without dyspeptic symptoms. CONCLUSIONS: By using a simple standardized questionnaire, H. pylori serology and a hemoglobin reading in the evaluation of dyspeptic patients under 45 years of age, the need for endoscopy can be reduced by 55%.

[Ingested lead cartridges cause trouble]. / Blyhagl til besvaer.

BACKGROUND: Lead poisoning is rare. Intake of lead shots may cause damage of the bone marrow, the nervous system, the liver, the kidneys and the endocrine organs. MATERIALS AND METHODS: We present two patients who had taken approximately 120 grams of lead shots. They developed asthenia, nausea and abdominal pain. We tried to remove the lead shots with fluids, laxatives and colonoscopy, but ultimately surgical intervention had to be performed. The patients were also treated with dimercaptosuccinic acid (DMSA). RESULTS AND INTERPRETATION: Although DMSA treatment is associated with a significant decrease in blood lead concentration and an increase of lead urinary excretion, surgical intervention is the most efficient way of treating oral intake of lead. Treatment with DMSA will probably have to go on for months in order to give an additional effect.