Filter

Refine by Access

Refine by Subject

Refine by Date

—
  • Print
  • Save

Browse

You are looking at 1 - 10 of 30 items for :

  • Country of Treatment x
  • Publication Details x
  • Gastroenterology x
  • Refine by Access: All content x
Clear All
Open access

A rare case of insulinoma presenting with deep vein thrombosis, successfully treated with minimally invasive procedures including microwave ablation

Kushalee Poornima Jayawickreme, Dimuthu T Muthukuda, Chithranga Kariyawasam, Lalitha Piyarisi, and Buddhi A Abeywickrama

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

  • Novel therapeutic minimally invasive procedures are successful in treating selected cases of insulinoma.

  • Microwave ablation could be recommended preferentially over selective trans-arterial embolization, and radiofrequency ablation in treating insulinoma due to its efficacy and minimal complications.

  • We report the first case of microwave ablation performed in combination with alcohol ablation in successfully treating insulinoma to our knowledge.

DOI:
https://doi.org/10.1530/EDM-21-0127
Volume 2022: Issue 1
Open access

Multiple electrolyte disturbances as the presenting feature of multiple endocrine neoplasia type 1 (MEN-1)

Adrian Po Zhu Li, Sheela Sathyanarayan, Salvador Diaz-Cano, Sobia Arshad, Eftychia E Drakou, Royce P Vincent, Ashley B Grossman, Simon J B Aylwin, and Georgios K Dimitriadis

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

  • 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.

  • Although relatively rare compared with sporadic cases, thymic carcinoids secondary to MEN-1 may also be associated with EAS.

  • Electrolyte derangement, in particular hypokalaemia and hypercalcaemia, can precipitate mild nephrogenic diabetes insipidus.

DOI:
https://doi.org/10.1530/EDM-21-0207
Volume 2022: Issue 1
Open access

Acromegaly caused by a GHRH-producing pancreatic neuroendocrine tumor: a rare manifestation of MEN1 syndrome

Minna Koivikko, Tapani Ebeling, Markus Mäkinen, Juhani Leppäluoto, Antti Raappana, Petteri Ahtiainen, and Pasi Salmela

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

  • Clinical suspicion is in a key position in detecting acromegaly.

  • Remember genetic disorders with young individuals having primary hyperparathyroidism.

  • Consider multiple endocrine neoplasia type 1 syndrome when a person has several endocrine neoplasia.

  • Acromegaly may be of ectopic origin with patients showing no abnormalities in radiological imaging of the pituitary gland.

DOI:
https://doi.org/10.1530/EDM-21-0079
Volume 2022: Issue 1
Open access

Fructose-induced severe hypertriglyceridemia and diabetes mellitus: a cautionary tale

Ana Dugic, Michael Kryk, Claudia Mellenthin, Christoph Braig, Lorenzo Catanese, Sandy Petermann, Jürgen Kothmann, and Steffen Mühldorfer

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

  • 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.

  • When consumed in large amounts, fructose is considered a highly lipogenic nutrient linked with postprandial hypertriglyceridemia and de novo hepatic lipogenesis (DNL).

  • 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.

  • Plasmapheresis is an effective adjunct treatment option for rapid lowering of high serum lipids, which is paramount to prevent acute complications of severe hypertriglyceridemia.

DOI:
https://doi.org/10.1530/EDM-21-0110
Volume 2021: Issue 1
Open access

Treatment-resistant hypertension in a post-transplant patient with cystic fibrosis: a rare case of phaeochromocytoma

David Joseph Tansey, Jim John Egan, Michelle Murray, Katie Padfield, John Conneely, and Mensud Hatunic

Summary

Phaeochromocytoma is a rare catecholamine-producing tumour. We present the case of phaeochromocytoma in a young man with a background history of a double-lung transplant for cystic fibrosis (CF). Clinical case: A 25-year-old man, with a background history of CF, CF-related diabetes (CFRD) and a double-lung transplant in 2012 was presented to the emergency department with crampy abdominal pain, nausea and vomiting. He was diagnosed with distal intestinal obstructions syndrome (DIOS). Contrast-enhanced CT imaging of the abdomen and pelvis showed a 3.4 cm right adrenal lesion. This was confirmed by a subsequent MRI of adrenal glands that demonstrated moderate FDG uptake, suggestive of a diagnosis of phaeochromocytoma. The patient was noted to be hypertensive with a blood pressure averaging 170/90 mm/Hg despite treatment with three different anti-hypertensive medications – amlodipine, telmisartan and doxazosin. He had hypertension for the last 3 years and had noted increasingly frequent sweating episodes recently, without palpitations or headache. Laboratory analysis showed elevated plasma normetanephrines (NMN) of 3167 pmol/L (182–867) as well as elevated metanephrines (MN) of 793 pmol/L (61–377) and a high 3-MT of 257 pmol/L (<185). Once cathecholamine excess was identified biochemically, we proceeded to functional imaging to further investigate. MIBG scan showed a mild increase in the uptake of tracer to the right adrenal gland compared to the left. The case was discussed at a multidisciplinary (MDT) meeting at which the diagnosis of phaeochromocytoma was made. Following a challenging period of 4 weeks to control the patient’s blood pressure with an alpha-blocker and beta-blocker, the patient had an elective right adrenalectomy, with normalisation of his blood pressure post-surgery. The histopathology of the excised adrenal gland was consistent with a 3 cm phaeochromocytoma with no adverse features associated with malignant potential.

Learning points

  • Five to ten per cent of patients have a secondary cause for hypertension. Phaeochromocytomas are rare tumours, originating in chromaffin cells and they represent 0.1–1.0% of all secondary hypertension cases.

  • Secondary causes should be investigated in cases where:

  • Patient is presenting <20 years of age or >50 years of age,

  • There is refractory hypertension, or

  • There is serious end-organ damage present.

  • Patients may present with the triad of headache, sweating and palpitations or more vague, non-specific symptoms.

  • Patients with suspected phaeochromocytoma should have 24-h urinary catecholamines measured and if available, plasma metanephrines measured. Those with abnormal biochemical tests should be further investigated with imaging to locate the tumour.

  • Medical treatment involves alpha- and beta-blockade for at least 2 to 3 weeks before surgery as well as rehydration.

  • There is a possibility of relapse so high-risk patients require life-long follow-up.

DOI:
https://doi.org/10.1530/EDM-21-0026
Volume 2021: Issue 1
Open access

Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis

Marina Yukina, Nurana Nuralieva, Ekaterina Sorkina, Ekaterina Troshina, Anatoly Tiulpakov, Zhanna Belaya, and Galina Melnichenko

Summary

Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson–Gilford progeria syndrome, mandibuloacral dysplasia, atypical progeroid syndrome (APS) and generalized lipodystrophy-associated progeroid syndrome (GLPS). All of those syndromes are associated with some progeroid features, lipodystrophy and metabolic complications but vary differently depending on a particular mutation and even patients carrying the same gene variant are known to have clinical heterogeneity. We report a new 30-year-old female patient from Russia with an APS and generalized lipodystrophy (GL) due to the heterozygous de novo LMNA p.E262K mutation and compare her clinical and metabolic features to those of other described patients with APS. Despite many health issues, short stature, skeletal problems, GL and late diagnosis of APS, our patient seems to be relatively metabolically healthy for her age when compared to previously described patients with APS.

Learning points

  • Atypical progeroid syndromes (APS) are rare and heterogenic with different age of onset and degree of metabolic disorders, which makes this diagnosis very challenging for clinicians and may be missed until the adulthood.

  • The clinical picture of the APS depends on a particular mutation in the LMNA gene, but may vary even between the patients with the same mutation.

  • The APS due to a heterozygous LMNA p.E262K mutation, which we report in this patient, seems to have association with the generalized lipodystrophy, short stature and osteoporosis, but otherwise, it seems to cause relatively mild metabolic complications by the age of 30.

  • The patients with APS and lipodystrophy syndromes require a personalized and multidisciplinary approach, and so they should be referred to highly specialized reference-centres for diagnostics and treatment as early as possible.

  • Because of the high heterogeneity of such a rare disease as APS, every patient’s description is noteworthy for a better understanding of this challenging syndrome, including the analysis of genotype-phenotype correlations.

DOI:
https://doi.org/10.1530/EDM-20-0188
Volume 2021: Issue 1
Open access

Rare presentation of collapse and cardiomyopathy in phaeochromocytoma

Rajiv Singh and Cynthia Mohandas

Summary

A phaeochromocytoma is a rare neuroendocrine tumour derived from the chromaffin cells of the adrenal medulla. Tumours can produce excessive amounts of catecholamines. The presenting symptoms can vary but often include the classic triad of episodic headaches, sweating and palpitations. Due to catecholamine excess, patients can develop cardiomyopathy. Bradycardia and collapse could be the result of sinus node dysfunction or transient dysregulation of the autonomic nervous system. Patients with co-existing diabetes can have improvement or resolution of their diabetes after successful adrenalectomy. We report a case of an 87-year-old lady who initially presented with sweating, palpitations and collapse, resulting in a permanent pacemaker insertion. She was later found to have a large adrenal incidentaloma with subsequent markedly elevated plasma metanephrine levels. She later presented with chest pain and in acute pulmonary oedema with normal coronary arteries visualised on coronary angiogram. After surgical excision of her phaeochromocytoma, her diabetes resolved with her HbA1c improving from 68 to 46 mmol/mol, with no further requirement for diabetic medications. Her pulmonary oedema improved with no ongoing need for diuretic therapy. This case highlights that phaeochromocytomas can affect multiple systems and there should be a very high index of suspicion in patients presenting with sweating, palpitations, hypertension and a history of diabetes and even in those with collapse.

Learning points

  • There should be a high index of suspicion for phaeochromocytomas in patients with palpitations, diaphoresis, anxiety, hypertension and diabetes.

  • Rarely phaeochromocytomas can present as bradycardia and collapse due to sinus node dysfunction or transient autonomic dysregulation and that should be considered in older patients.

  • Catecholamine cardiomyopathy can occur in phaeochromocytoma with potential resolution after successful surgical excision.

  • Diabetes can resolve after successful surgical treatment of a phaeochromocytoma.

DOI:
https://doi.org/10.1530/EDM-20-0198
Volume 2021: Issue 1
Open access

Successful long-term use of pioglitazone in Berardinelli–Seip lipodystrophy-associated diabetes

Carolina Chaves, Mariana Chaves, João Anselmo, and Rui César

Summary

Berardinelli–Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disease, characterized by the absence of subcutaneous adipose tissue, leptin deficiency and severe metabolic complications, such as insulin resistance, diabetes mellitus, and dyslipidemia. The most common mutation occurs in BCSL2 which encodes seipin, a protein involved in adipogenesis. We report a patient with BSCL who was diagnosed with diabetes at 11 years old. He was started on metformin 1000 mg twice daily, which lowered glycated hemoglobin (HbA1c) to less than 7%. Four months later, HbA1c raised above 7.5%, indicating secondary failure to metformin. Therefore, we added the peroxisome proliferator-activated receptor-gamma (PPARG) agonist, pioglitazone. Since then and for the last 5 years his HbA1c has been within the normal range. These findings indicate that pioglitazone should be considered as a valid alternative in the treatment of diabetes in BSCL patients. To the best of our knowledge, this is the first specific report of successful long-term treatment with pioglitazone in a patient with BSCL.

Learning points

  • Berardinelli–Seip congenital lipodystrophy (BSCL) is a recessive genetic disorder associated with severe insulin resistance and early onset diabetes, usually around puberty. Failure of oral antidiabetic medication occurs within the first years of treatment in BSCL patients.

  • When failure to achieve metabolic control with metformin occurs, pioglitazone may be a safe option, lowering insulin resistance and improving both the metabolic control and lipodystrophic phenotype.

  • Herein we show that pioglitazone can be a safe and efficient alternative in the long-term treatment of BSCL patients with diabetes.

DOI:
https://doi.org/10.1530/EDM-20-0183
Volume 2021: Issue 1
Open access

Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1

Joana Lima Ferreira, Francisco Simões de Carvalho, Ana Paula Marques, and Rosa Maria Príncipe

Summary

Autoimmune polyglandular syndrome type 1 (APS-1) is a very rare autoimmune entity, accounting for about 400 cases reported worldwide. It is characterized by the presence of at least two of three cardinal components: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism and Addison’s disease. It typically manifests in childhood with CMC and years later with hypoparathyroidism. A 50-year-old man was referred to the Endocrinology outpatient clinic due to irregular follow-up of primary hypoparathyroidism diagnosed at age 7. Previous analysis reported frequent fluctuations of calcium and phosphate levels and persistent hypercalciuria. He presented several comorbidities, including bilateral cataracts, other ocular disorders, transient alopecia and chronic gastritis. Due to weight loss, fatigue, gastrointestinal complaints and the findings at objective examination, Addison’s disease and CMC were investigated and confirmed. Antifungal therapy and hormonal replacement were started with evident clinical improvement. Regarding hypoparathyroidism, calcium-phosphate product decreased and other extraskeletal calcifications were diagnosed, such as nephrolithiasis and in basal ganglia. Further evaluation by genetic analysis revealed homozygosity for a frameshift mutation considered to be a pathogenic variant. It was reported only in two Asian siblings in compound heterozygosity. This case highlights the broad phenotypic spectrum of APS-1 and the significative intra-familial phenotype variability. A complete clinical history taking and high index of suspicion allowed the diagnosis of this rare entity. This case clarifies the need for regular long-term follow-up. In the specific case of hypoparathyroidism and Addison’s disease in combination, the management of APS-1 can be complex.

Learning points:

  • Autoimmune polyglandular syndrome type 1 (APS-1) is a deeply heterogeneous genetic entity with a broad spectrum of clinical manifestations and a significant intra-family phenotypic variability.

  • Early diagnosis of APS-1 is challenging but clinically relevant, as endocrine and non-endocrine manifestations may occur during its natural history.

  • APS-1 should be considered in cases of acquired hypoparathyroidism, and even more so with manifestations with early onset, family history and consanguinity.

  • APS-1 diagnosis needs a high index of suspicion. Key information such as all the comorbidities and family aspects would never be valued in the absence of a complete clinical history taking.

  • Especially in hypoparathyroidism and Addison’s disease in combination, the management of APS-1 can be complex and is not a matter of simply approaching individually each condition.

  • Regular long-term monitoring of APS-1 is essential. Intercalary contact by phone calls benefits the control of the disease and the management of complications.

DOI:
https://doi.org/10.1530/EDM-20-0083
Volume 2020: Issue 1
Open access

A rare simultaneous manifestation of polyglandular autoimmune syndrome type II

Michael Dick and Michael Croxson

Summary

Polyglandular autoimmune syndrome type II is a rare condition defined by the presence of autoimmune primary adrenal insufficiency along with autoimmune thyroid disease and/or type-I diabetes. Onset of these conditions will usually be separated by several years, though in rare instances it can occur simultaneously. This syndrome can also be associated with various non-endocrine autoimmune diseases, such as vitiligo and alopecia. Coeliac disease is less commonly associated with polyglandular autoimmune syndrome type II and is more commonly associated with polyglandular autoimmune syndrome type III. Here we describe an interesting case of a young male presenting with simultaneous manifestation of Addison’s disease and Graves, with coincident asymptomatic coeliac disease, as a rare manifestation of polyglandular autoimmune syndrome type II.

Learning points:

  • Polyglandular autoimmune syndrome type II is rare, has female predominance, and peak onset in the third and fourth decades of life.

  • Onset of Addison’s disease will usually precede or follow onset of type-I diabetes or autoimmune thyroid disease by several years in this syndrome.

  • Simultaneous onset can occur, as in this case.

  • Coeliac disease is uncommonly associated with this syndrome.

  • Coeliac disease is more commonly associated with polyglandular autoimmune syndrome type III.

  • Coeliac disease should be screened for in patients with associated autoimmune conditions, such as type-I diabetes or autoimmune thyroid disease.

DOI:
https://doi.org/10.1530/EDM-20-0051
Volume 2020: Issue 1