ABSTRACT
Differential diagnostic aspects of colon stenoses are discussed using the example case of a female patient presenting with multilocular colon metastases, who had lobular breast cancer 9 years previously. Typical is linitis plastica, which can indicate tumorous infiltration not only of the stomach, but also of the large intestine. Other endoscopic imaging and histological studies may, however, fail. The pathologist requires the anamnestic data relating to the breast cancer for exact assignment of the tumorous infiltration.
Subject(s)
Breast Neoplasms/diagnosis , Colonic Neoplasms/diagnosis , Colonic Neoplasms/secondary , Intestinal Obstruction/diagnosis , Intestinal Obstruction/prevention & control , Aged , Antineoplastic Agents/administration & dosage , Breast Neoplasms/therapy , Colonic Neoplasms/drug therapy , Diagnosis, Differential , Female , Humans , Letrozole , Neoplasm Invasiveness , Nitriles/administration & dosage , Treatment Outcome , Triazoles/administration & dosageABSTRACT
Iron overload in MR-imaging with decreased signal intensity in T2 weighting of liver, spleen, adrenal gland and pituitary gland in combination with an extremely elevated ferritin level of 9859â ng/mL and a positive family history of hyperferritinaemia led to the diagnosis of the rare hemochromatosis type 4 (synonym: ferroportin disease) in the case of a 62-year-old patient. The autosomal dominant disease was confirmed by analysis of the SLC40A1-gene. Histologically, a liver cirrhosis was detected. This was neither detectable in the case of the two similarly aged cousins (ferritin about 4750â ng/mL, transferrin saturation normal), nor in the case of the 82-year-old mother (ferritin 7860â ng/dL, transferrin saturation 58â%). Hemochromatosis type 4 with worldwide less than 200 described cases is caused by a disorder of the hepcidin ferroportin metabolism, which regulates the iron export from the cells. A hepatocellular carcinoma may occur even without cirrhosis. Therefore, surveillance of these patients is necessary. Treatment options are therapeutic phlebotomies and alternatively iron-chelating drugs (Deferoxamin, Deferasirox) if the patient develops anaemia.
Subject(s)
Cataract/congenital , Hemochromatosis/congenital , Hemochromatosis/pathology , Iron Metabolism Disorders/congenital , Aged, 80 and over , Cataract/pathology , Diagnosis, Differential , Female , Humans , Iron Metabolism Disorders/pathology , Magnetic Resonance Imaging/methods , Male , Middle AgedSubject(s)
Anemia, Iron-Deficiency/etiology , Capsule Endoscopy , Gastroscopy , Hernia, Hiatal/complications , Hernia, Hiatal/diagnosis , Peptic Ulcer Hemorrhage/diagnosis , Stomach Ulcer/diagnosis , Diagnosis, Differential , Female , Fundoplication , Hernia, Hiatal/surgery , Humans , Laparoscopy , Middle Aged , Peptic Ulcer Hemorrhage/etiology , Peptic Ulcer Hemorrhage/surgery , Stomach Ulcer/etiology , Stomach Ulcer/surgerySubject(s)
Artifacts , Bacteremia/blood , Blood Proteins/analysis , Electrophoresis, Capillary/methods , Piperacillin/administration & dosage , Piperacillin/blood , Pneumonia, Bacterial/blood , Aged, 80 and over , Anti-Bacterial Agents/administration & dosage , Anti-Bacterial Agents/blood , Bacteremia/diagnosis , Diagnosis, Differential , Female , Humans , Pneumonia, Bacterial/diagnosisSubject(s)
Abdominal Pain/etiology , Abdominal Pain/pathology , Anemia, Iron-Deficiency/etiology , Anemia, Iron-Deficiency/pathology , Peutz-Jeghers Syndrome/diagnosis , Peutz-Jeghers Syndrome/pathology , Actins/analysis , Diagnosis, Differential , Double-Balloon Enteroscopy , Female , Humans , Intestinal Mucosa/pathology , Intussusception/diagnosis , Intussusception/etiology , Intussusception/pathology , Ultrasonography , Young AdultSubject(s)
Choristoma/pathology , Pancreas , Polyps/pathology , Stomach Diseases/pathology , Diagnosis, Differential , Humans , Middle AgedSubject(s)
Duodenal Ulcer/drug therapy , Epinephrine/administration & dosage , Gastroscopy , Hematemesis/etiology , Peptic Ulcer Perforation/diagnosis , Pneumoperitoneum/diagnosis , Subcutaneous Emphysema/diagnosis , Subcutaneous Emphysema/etiology , Diagnosis, Differential , Humans , Male , Middle AgedSubject(s)
Abdominal Wall , Carcinoma, Squamous Cell/radiotherapy , Enteral Nutrition/instrumentation , Gastrostomy/instrumentation , Granuloma, Foreign-Body/diagnosis , Hypopharyngeal Neoplasms/radiotherapy , Umbilicus , Diagnosis, Differential , Granuloma, Foreign-Body/pathology , Humans , Male , Middle Aged , Umbilicus/pathologySubject(s)
Abdominal Pain/diagnosis , Abdominal Pain/etiology , Echinococcosis, Hepatic/complications , Echinococcosis, Hepatic/diagnostic imaging , Echinococcosis/complications , Echinococcosis/diagnostic imaging , Adult , Diagnosis, Differential , Echinococcosis/pathology , Echinococcosis, Hepatic/pathology , Humans , Male , UltrasonographySubject(s)
Electrocardiography , Equipment Failure Analysis , Fatigue/etiology , Pacemaker, Artificial , Sick Sinus Syndrome/therapy , Aged , Diagnosis, Differential , Electrodes, Implanted , Fatigue/physiopathology , Heart Ventricles/physiopathology , Humans , Male , Sick Sinus Syndrome/physiopathologySubject(s)
Autoimmune Diseases/diagnosis , Common Bile Duct/pathology , Jaundice/etiology , Pancreatic Ducts/pathology , Pancreatitis/diagnosis , Sjogren's Syndrome/diagnosis , Aged , Autoimmune Diseases/etiology , Bile Ducts, Intrahepatic/pathology , Cholangiopancreatography, Endoscopic Retrograde , Diagnosis, Differential , Humans , Male , Pancreatitis/etiology , Sclerosis , Sjogren's Syndrome/complicationsSubject(s)
Eosinophilia/diagnosis , Esophagitis/diagnosis , Adult , Asthma , Deglutition Disorders , Diagnosis, Differential , Esophagoscopy , Esophagus/pathology , Humans , Male , Neck PainSubject(s)
Hypopharynx/pathology , Zenker Diverticulum/diagnosis , Aged , Female , Humans , Zenker Diverticulum/therapyABSTRACT
We report the case of a 40-years-old female patient with recurrent cholestatic liver disease who presented twice with severe intrahepatic cholestasis of pregnancy and pronounced choledocholithiasis between pregnancies. Bile duct stones were removed endoscopically and a laparoscopic cholecystectomy was performed after the second pregnancy. Liver histology revealed intrahepatic cholestasis with portal inflammation and fibrosis, resembling progressive familial intrahepatic cholestasis (PFIC). Molecular genetic studies identified the heterozygous mutation c.957C > T in the ABCB4 gene encoding the hepatobiliary phospholipid transporter. This is the first report of this mutation that introduces a stop codon in an index patient with intrahepatic cholestasis of pregnancy and multiple bile duct stones. In addition, we detected the ABCB11 polymorphism V 444A, which is associated with a decreased expression of the bile salt export pump. Whereas homozygous carriers of the ABCB4 mutation develop PFIC type 3, the heterozygous ABC transporter mutations represent genetic risk factors for cholelithiasis and recurrent cholestatic hepatitis upon challenge with oral contraceptives or during pregnancy. Of note, the patient presented with normal serum gamma-glutamyltranspeptidase activities during pregnancy-associated cholestatic episodes but normal liver enzymes after delivery, whereas choledocholithiasis was associated with high gamma-glutamyl transpeptidase levels. It is unknown whether ursodeoxycholic acid prevents cholestasis or gallstones in patients with ABCB4 deficiency.