Related Disciplines > Gastroenterology
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Search for other papers by Maha Khalil Abass in
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Search for other papers by Aisha Al Shamsi in
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College of Medicine and Health Sciences, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates
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Search for other papers by Mohammed Suhail Yasin Masalawala in
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College of Medicine and Health Sciences, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates
Search for other papers by Asma Deeb in
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Summary
The most frequent causes of pancreatitis classically have been known to be gallstones or alcohol. However, genetics can also play a key role in predisposing patients to both chronic and acute pancreatitis. The serine protease inhibitor Kazal type 1 (SPINK 1) gene is known to be strongly associated with pancreatitis. Patients with these underlying genetic mutations can have severe diseases with a high morbidity rate and frequent hospitalization. We report an Arab girl who presented with acute pancreatitis at the age of 7 years progressing to recurrent chronic pancreatitis over a few years. She had severe obesity from the age of 4 years and developed type 2 diabetes at the age of 12. She had a normal biliary system anatomy. Genetic analysis showed that she had combined heterozygous mutations in the SPINK1 gene (SPINK1, c.101A>G p.(Asn34Ser) and SPINK1, c.56-37T>C). Her parents were first-degree cousins, but neither had obesity. Mother was detected to have the same mutations. She had type 2 diabetes but never presented with pancreatitis. This case is the first to be reported from the Arab region with these combined mutations leading to recurrent chronic pancreatitis. It illustrates the importance of diagnosing the underlying genetic mutation in the absence of other known causes of pancreatitis. Considering the absence of pancreatitis history in the mother who did not have obesity but harboured the same mutations, we point out that severe obesity might be a triggering factor of pancreatitis in the presence of the mutations in SPINK1 gene in this child. While this is not an assumption from a single patient, we show that not all carriers of this mutation develop the disease even within the same family. Triggering factors like severe obesity might have a role in developing the disease.
Learning points
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Acute recurrent pancreatitis and chronic pancreatitis are uncommon in children but might be underdiagnosed.
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Biliary tract anomalies and dyslipidaemias are known causative factors for pancreatitis, but pancreatitis can be seen in children with intact biliary system.
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Genetic diagnosis should be sought in children with pancreatitis in the absence of known underlying predisposing factors.
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SPINK1 mutations can predispose to an early-onset severe recurrent pancreatitis and acute pancreatitis.
Search for other papers by Motohiro Sekiya in
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Search for other papers by Mikiko Yuhara in
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Search for other papers by Yuki Murayama in
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Search for other papers by Mariko Ohyama Osawa in
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Search for other papers by Rikako Nakajima in
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Search for other papers by Nami Ohuchi in
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Search for other papers by Nako Matsumoto in
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Search for other papers by Daichi Yamazaki in
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Search for other papers by Sayuri Mori in
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Search for other papers by Takaaki Matsuda in
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Search for other papers by Yoko Sugano in
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Search for other papers by Yoshinori Osaki in
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Search for other papers by Hitoshi Iwasaki in
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Search for other papers by Hiroaki Suzuki in
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Search for other papers by Hitoshi Shimano in
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Summary
A paired homeodomain transcription factor, PAX6 (paired-box 6), is essential for the development and differentiation of pancreatic endocrine cells as well as ocular cells. Despite the impairment of insulin secretion observed in PAX6-deficient mice, evidence implicating causal association between PAX6 gene mutations and monogenic forms of human diabetes is limited. We herein describe a 33-year-old Japanese woman with congenital aniridia who was referred to our hospital because of her uncontrolled diabetes with elevated hemoglobin A1c (13.1%) and blood glucose (32.5 mmol/L) levels. Our biochemical analysis revealed that her insulin secretory capacity was modestly impaired as represented by decreased 24-h urinary C-peptide levels (38.0 μg/day), primarily explaining her diabetes. Intriguingly, there was a trend toward a reduction in her serum glucagon levels as well. Based on the well-recognized association of PAX6 gene mutations with congenital aniridia, we screened the whole PAX6 coding sequence, leading to an identification of a heterozygous Gln135* mutation. We tested our idea that this mutation may at least in part explain the impaired insulin secretion observed in this patient. In cultured pancreatic β-cells, exogenous expression of the PAX6 Gln135* mutant produced a truncated protein that lacked the transcriptional activity to induce insulin gene expression. Our observation together with preceding reports support the recent attempt to include PAX6 in the growing list of genes causally responsible for monogenic diabetes. In addition, since most cases of congenital aniridia carry PAX6 mutations, we may need to pay more attention to blood glucose levels in these patients.
Learning points
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PAX6 Gln135* mutation may be causally associated not only with congenital aniridia but also with diabetes.
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Blood glucose levels may deserve more attention in cases of congenital aniridia with PAX6 mutations.
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Our case supports the recent attempt to include PAX6 in the list of MODY genes, and Gln135* may be pathogenic.
Institute of Radiology, University of Padova, Padova, Italy
Search for other papers by Filippo Crimì in
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Search for other papers by Giulio Barbiero in
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Endocrine Disease Unit, University of Padova, Padova, Italy
Search for other papers by Irene Tizianel in
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Nuclear Medicine Unit, University-Hospital of Padova, Padova, Italy
Search for other papers by Laura Evangelista in
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Endocrine Disease Unit, University of Padova, Padova, Italy
Search for other papers by Filippo Ceccato in
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Summary
A 61-year-old man went to the Emergency Department with left upper abdominal quadrant pain and low-grade fever, as well as a loss of weight (3 kg in 6 weeks). A solid-cystic lesion in the left adrenal lodge was discovered by abdominal ultrasonography. A slight increase in the serum amylase with normal lipase was observed, but there were no signs or symptoms of pancreatitis. A contrast-enhanced CT revealed a tumor that was suspected of adrenocortical cancer. Therefore, he was referred to the endocrine unit. The hormonal evaluation revealed no signs of excessive or inadequate adrenal secretion. To characterize the mass, an MRI was performed; the lesion showed an inhomogeneous fluid collection with peripheral wall contrast-enhancement, as well as a minor 18-fluorodeoxyglucose uptake at PET/CT images. The risk of primary adrenal cancer was minimal after the multidisciplinary discussion. An acute necrotic collection after focal pancreatitis was suspected, according to the characteristics of imaging. Both CT-guided drainage of the necrotic accumulation and laboratory analysis of the aspirated fluid confirmed the diagnosis.
Learning points
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Different types of expansive processes can mimic adrenal incidentalomas.
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Necrotic collection after acute focal pancreatitis could be misdiagnosed as an adrenal mass, since its CT characteristics could be equivocal.
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MRI has stronger capacities than CT in differentiating complex lesions of the adrenal lodge.
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A multidisciplinary approach is fundamental in the management of patients with a newly discovered adrenal incidentaloma and equivocal/suspicious imaging features (low lipid content and size >4 cm).
Search for other papers by Kushalee Poornima Jayawickreme in
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Search for other papers by Dimuthu T Muthukuda in
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Search for other papers by Chithranga Kariyawasam in
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Search for other papers by Lalitha Piyarisi in
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Search for other papers by Buddhi A Abeywickrama in
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Summary
Treatment of insulinoma can be challenging, while surgical resection is considered the first line. When surgery is contraindicated or is refused, minimally invasive procedures such as selective arterial embolization, local ablative techniques including alcohol ablation, radiofrequency ablation and microwave ablation are being used of late. The world’s first microwave ablation of insulinoma was performed in 2015, after which there have been only a handful of reported cases. A 78-year-old female presented with painful swelling of the left lower limb. She was drowsy and was previously misdiagnosed as epilepsy when she had similar episodes since 2 years ago. She had hypoglycaemia with high serum insulin and C-peptide, and mildly high adjusted calcium, serum prolactin. MRI did not show pituitary adenoma. Lower limb venous duplex scan showed left lower limb deep vein thrombosis for which she was treated with anticoagulation. CT of the abdomen showed a tumour measuring 1.8 cm, located in the antero-superior aspect of the body of the pancreas, with the superior surface being abutted by the splenic artery and the inferior surface being 3 mm above the pancreatic duct, suggestive of an insulinoma. Selective transcatheter arterial embolization of the pancreatic tumour was attempted but was abandoned due to multiple small feeding arteries. Microwave ablation of the tumour was performed successfully. Since there was a possibility of the ablation being compromised due to the heat sink at the splenic artery, 2 mL of 99% alcohol was injected into the rim of the tumour near the artery. She was subsequently normoglycaemic. She defaulted follow up for repeat imaging of pancreas and screening for MEN1 syndrome due to the impact of the COVID-19 pandemic. Minimally invasive procedures are preferred over surgery in selected patients with insulinoma, out of which microwave ablation could be preferentially recommended due to its efficacy and minimal complications. We report the first case of MWA performed in combination with AA in successfully treating insulinoma to our knowledge. This is also the first reported case of DVT associated with isolated insulinoma prior to intervention, though it is rarely reported in MEN1 syndrome.
Learning points
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Novel therapeutic minimally invasive procedures are successful in treating selected cases of insulinoma.
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Microwave ablation could be recommended preferentially over selective trans-arterial embolization, and radiofrequency ablation in treating insulinoma due to its efficacy and minimal complications.
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We report the first case of microwave ablation performed in combination with alcohol ablation in successfully treating insulinoma to our knowledge.
Search for other papers by Hidekuni Takahashi in
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Search for other papers by Shigeo Nishimata in
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Search for other papers by Atsushi Kumada in
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Search for other papers by Gaku Yamanaka in
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Search for other papers by Yasuyo Kashiwagi in
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Search for other papers by Hisashi Kawashima in
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Summary
We encountered a case of childhood-onset lymphocytic infundibuloneurohypophysitis, based on the MRI and endocrinological findings, with decreased function of the anterior and posterior lobes of the pituitary. Three years after the diagnosis, the patient developed non-alcoholic steatohepatitis (NASH), which was effectively treated by growth hormone (GH) supplementation. The present case demonstrated that NASH can be effectively treated by short-term GH supplementation, even in late childhood.
Learning points
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In recent years, the efficacy of growth hormone replacement therapy in normalizing the liver function of adult-onset growth hormone deficiency patients with non-alcoholic steatohepatitis (NASH) has been reported.
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Lymphocytic infundibuloneurohypophysitis is a very rare disease, particularly in childhood.
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We here presented a rare case of a child with lymphocytic infundibuloneurohypophysitis who developed NASH and showed substantial improvement in liver function after growth hormone treatment.
Search for other papers by Adrian Po Zhu Li in
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Search for other papers by Sheela Sathyanarayan in
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Division of Cancer Studies, King’s College London, London, UK
Search for other papers by Salvador Diaz-Cano in
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Search for other papers by Sobia Arshad in
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Search for other papers by Eftychia E Drakou in
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Faculty of Life Sciences and Medicine, School of Life Course Sciences, King’s College London, London, UK
Search for other papers by Royce P Vincent in
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Barts and the London School of Medicine, Centre for Endocrinology, William Harvey Institute, London, UK
Neuroendocrine Tumour Unit, Royal Free Hospital, London, UK
Search for other papers by Ashley B Grossman in
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Search for other papers by Simon J B Aylwin in
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Obesity, Type 2 Diabetes and Immunometabolism Research Group, Department of Diabetes, Faculty of Life Sciences, School of Life Course Sciences, King’s College London, London, UK
Division of Reproductive Health, Warwick Medical School, University of Warwick, Coventry, UK
Search for other papers by Georgios K Dimitriadis in
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Summary
A 49-year-old teacher presented to his general physician with lethargy and lower limb weakness. He had noticed polydipsia, polyuria, and had experienced weight loss, albeit with an increase in central adiposity. He had no concomitant illnesses and took no regular medications. He had hypercalcaemia (adjusted calcium: 3.34 mmol/L) with hyperparathyroidism (parathyroid hormone: 356 ng/L) and hypokalaemia (K: 2.7 mmol/L) and was admitted for i.v. potassium replacement. A contrast-enhanced CT chest/abdomen/pelvis scan revealed a well-encapsulated anterior mediastinal mass measuring 17 × 11 cm with central necrosis, compressing rather than invading adjacent structures. A neck ultrasound revealed a 2 cm right inferior parathyroid lesion. On review of CT imaging, the adrenals appeared normal, but a pancreatic lesion was noted adjacent to the uncinate process. His serum cortisol was 2612 nmol/L, and adrenocorticotrophic hormone was elevated at 67 ng/L, followed by inadequate cortisol suppression to 575 nmol/L from an overnight dexamethasone suppression test. His pituitary MRI was normal, with unremarkable remaining anterior pituitary biochemistry. His admission was further complicated by increased urine output to 10 L/24 h and despite three precipitating factors for the development of diabetes insipidus including hypercalcaemia, hypokalaemia, and hypercortisolaemia, due to academic interest, a water deprivation test was conducted. An 18flurodeoxyglucose-PET (FDG-PET) scan demonstrated high avidity of the mediastinal mass with additionally active bilateral superior mediastinal nodes. The pancreatic lesion was not FDG avid. On 68Ga DOTATE-PET scan, the mediastinal mass was moderately avid, and the 32 mm pancreatic uncinate process mass showed significant uptake. Genetic testing confirmed multiple endocrine neoplasia type 1.
Learning points
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In young patients presenting with primary hyperparathyroidism, clinicians should be alerted to the possibility of other underlying endocrinopathies.
In patients with multiple endocrine neoplasia type 1 (MEN-1) and ectopic adrenocorticotrophic hormone syndrome (EAS), clinicians should be alerted to the possibility of this originating from a neoplasm above or below the diaphragm.
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Although relatively rare compared with sporadic cases, thymic carcinoids secondary to MEN-1 may also be associated with EAS.
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Electrolyte derangement, in particular hypokalaemia and hypercalcaemia, can precipitate mild nephrogenic diabetes insipidus.
Search for other papers by Minna Koivikko in
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Search for other papers by Tapani Ebeling in
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Search for other papers by Markus Mäkinen in
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Search for other papers by Juhani Leppäluoto in
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Search for other papers by Antti Raappana in
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Search for other papers by Petteri Ahtiainen in
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Search for other papers by Pasi Salmela in
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Summary
Multiple endocrine neoplasia type 1 NM_001370259.2(MEN1):c.466G>C(p.Gly156Arg) is characterized by tumors of various endocrine organs. We report on a rare, growth hormone-releasing hormone (GHRH)-releasing pancreatic tumor in a MEN1 patient with a long-term follow-up after surgery. A 22-year-old male with MEN1 syndrome, primary hyperparathyroidism and an acromegalic habitus was observed to have a pancreatic tumor on abdominal CT scanning, growth hormone (GH) and insulin-like growth factor 1 (IGF1) were elevated and plasma GHRH was exceptionally high. GHRH and GH were measured before the treatment and were followed during the study. During octreotide treatment, IGF1 normalized and the GH curve was near normal. After surgical treatment of primary hyperparathyroidism, a pancreatic tail tumor was enucleated. The tumor cells were positive for GHRH antibody staining. After the operation, acromegaly was cured as judged by laboratory tests. No reactivation of acromegaly has been seen during a 20-year follow-up. In conclusion, an ectopic GHRH-producing, pancreatic endocrine neoplasia may represent a rare manifestation of MEN1 syndrome.
Learning points
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Clinical suspicion is in a key position in detecting acromegaly.
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Remember genetic disorders with young individuals having primary hyperparathyroidism.
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Consider multiple endocrine neoplasia type 1 syndrome when a person has several endocrine neoplasia.
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Acromegaly may be of ectopic origin with patients showing no abnormalities in radiological imaging of the pituitary gland.
Search for other papers by Ana Dugic in
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Search for other papers by Michael Kryk in
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Search for other papers by Claudia Mellenthin in
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Search for other papers by Christoph Braig in
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Search for other papers by Lorenzo Catanese in
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Search for other papers by Sandy Petermann in
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Search for other papers by Jürgen Kothmann in
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Search for other papers by Steffen Mühldorfer in
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Summary
Drinking fruit juice is an increasingly popular health trend, as it is widely perceived as a source of vitamins and nutrients. However, high fructose load in fruit beverages can have harmful metabolic effects. When consumed in high amounts, fructose is linked with hypertriglyceridemia, fatty liver and insulin resistance. We present an unusual case of a patient with severe asymptomatic hypertriglyceridemia (triglycerides of 9182 mg/dL) and newly diagnosed type 2 diabetes mellitus, who reported a daily intake of 15 L of fruit juice over several weeks before presentation. The patient was referred to our emergency department with blood glucose of 527 mg/dL and glycated hemoglobin (HbA1c) of 17.3%. Interestingly, features of diabetic ketoacidosis or hyperosmolar hyperglycemic state were absent. The patient was overweight with an otherwise unremarkable physical exam. Lipase levels, liver function tests and inflammatory markers were closely monitored and remained unremarkable. The initial therapeutic approach included i.v. volume resuscitation, insulin and heparin. Additionally, plasmapheresis was performed to prevent potentially fatal complications of hypertriglyceridemia. The patient was counseled on balanced nutrition and detrimental effects of fruit beverages. He was discharged home 6 days after admission. At a 2-week follow-up visit, his triglyceride level was 419 mg/dL, total cholesterol was 221 mg/dL and HbA1c was 12.7%. The present case highlights the role of fructose overconsumption as a contributory factor for severe hypertriglyceridemia in a patient with newly diagnosed diabetes. We discuss metabolic effects of uncontrolled fructose ingestion, as well as the interplay of primary and secondary factors, in the pathogenesis of hypertriglyceridemia accompanied by diabetes.
Learning points
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Excessive dietary fructose intake can exacerbate hypertriglyceridemia in patients with underlying type 2 diabetes mellitus (T2DM) and absence of diabetic ketoacidosis or hyperosmolar hyperglycemic state.
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When consumed in large amounts, fructose is considered a highly lipogenic nutrient linked with postprandial hypertriglyceridemia and de novo hepatic lipogenesis (DNL).
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Severe lipemia (triglyceride plasma level > 9000 mg/dL) could be asymptomatic and not necessarily complicated by acute pancreatitis, although lipase levels should be closely monitored.
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Plasmapheresis is an effective adjunct treatment option for rapid lowering of high serum lipids, which is paramount to prevent acute complications of severe hypertriglyceridemia.
Search for other papers by Andrea del Toro-Diez in
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Search for other papers by Ernesto Solá-Sánchez in
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Search for other papers by Michelle Mangual-García in
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Summary
Primary hypothyroidism is one of the most common endocrine disorders with widely available treatment. A minority of patients remain with uncontrolled hypothyroidism despite therapy. The objective of this case series was to demonstrate that medication non-adherence, rather than malabsorption, should be sought as the most common cause of unsuppressed TSH levels in patients receiving treatment for this condition. Non-adherence is often considered as a diagnosis of exclusion. Nonetheless, a diagnosis of malabsorption requires a more extensive workup, including imaging and invasive procedures, which increase healthcare costs and burden to the patient. The findings of this study allow for a cost-effective approach to uncontrolled hypothyroidism.
Learning points
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Medication non-adherence is a common cause of insuppressible TSH levels.
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Once weekly levothyroxine is an alternative approach to non-compliant patients.
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Assessing compliance is more cost-effective and less burdensome than testing for malabsorption.
Search for other papers by P A D M Kumarathunga in
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Search for other papers by N S Kalupahana in
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Search for other papers by C N Antonypillai in
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Summary
Whey protein is a popular dietary supplement that is claimed to provide multiple health benefits. It has been shown to delay gastric emptying and impair ileal nutrient absorption. Additionally, some of the other additives like papain enzyme, soy lecithin in these protein supplements could interfere with L-thyroxine absorption. There is no evidence in the literature for the effects of protein supplements on L-thyroxine absorption. Herein, we describe a case of a 34-year-old lady who was on endocrinology follow up for primary hypothyroidism with stable thyroid-stimulating hormone (TSH) levels within the normal range while on L-thyroxine with a dose of 125 µg daily for the last 3 years, presenting with mild hypothyroid symptoms and elevated TSH level following a recent introduction of a protein supplement by her physical care adviser. Her treatment adherence and ingestion technique were good throughout, she was not on other medications or herbal remedies, there were no other changes in her food pattern or features suggestive of malabsorption, she was not pregnant, was taking the same L-thyroxine brand and TSH test was done from the routine lab. Since the only factor which could have contributed to the deranged TSH levels was the recent introduction of the whey protein supplement, we advised her to stop the protein supplement while continuing the same dose of L-thyroxine. Her TSH level was repeated in 6 weeks and was found to be normal (1.7 mIU/L). Our case report demonstrates that over-the-counter protein supplements could interfere with L-thyroxine absorption. Therefore, patients on L-thyroxine should be cautious when taking them.
Learning points
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Over-the-counter protein supplements could interfere with oral L-thyroxine absorption.
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The underlying mechanism could be the effect of whey protein by delaying gastric emptying and reduced responsiveness of organic anion transporters in the ileum, and there may be a contribution from other additives like papain and soy lecithin present in these supplements.
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When there is an elevation of previously stable thyroid-stimulating hormone (TSH) value in a hypothyroid patient on oral L-thyroxine, the patient's assessment should include inquiring for a recent introduction of protein supplement, in the absence of other well-known risk factors.
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Discontinuation of protein supplement results in normalization of thyroid function tests.
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Patients on oral L-thyroxine should be cautious when taking over-the-counter protein supplementation.