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Open access

Melanie Nana and Catherine Nelson-Piercy

Summary

COVID-19 is associated with severe disease in pregnancy. Complications of the disease, or simultaneous diagnoses, may be missed if clinicians do not retain a large differential diagnosis when assessing such women. Starvation ketoacidosis is one such diagnosis which may complicate the disease and should not be missed. A 37-year-old woman, 33 weeks’ gestation presented with breathlessness. Clinical history, examination and investigations supported a diagnosis of starvation ketosis of pregnancy complicating COVID-19 pneumonitis. Prompt correction of the metabolic disturbance resulted in resolution, and preterm delivery was avoided at this time. Early recognition and prompt management of starvation ketosis of pregnancy in women with COVID-19 are important in reducing maternal and neonatal morbidity and mortality. Preterm delivery may be avoided with prompt resolution of the metabolic disturbance. Clinicians should keep a wide differential diagnosis when assessing women with breathlessness. A multidisciplinary team (MDT) approach is required to facilitate optimal care.

Learning points

  • Clinicians should maintain a wide differential when assessing women who are unwell with COVID-19 in pregnancy.

  • Complications such as starvation ketoacidosis are rare but life-threatening.

  • An awareness of such complications facilitates early identification of the condition, and involvement of appropriate specialists who can initiate optimal and timely management.

  • In the context of pregnancy, where ketoacidosis poses a threat to the mother or baby, prompt management and resolution may avoid preterm delivery.

  • Conditions that may increase the risk of developing starvation ketoacidosis include pregnancy, medication use such as corticosteroids or tocolytic therapies, previous gastric surgery, intercurrent illness and pregnancy-related conditions that might contribute towards a degree of chronic starvation.

  • Multidisciplinary input supports the delivery of best practice and care for the patients.

Open access

Mauricio Alvarez, Oswaldo Rincon, Alejandra Alvarado, and Francisco Puentes

Summary

We present the case of a 23-year-old patient with maturity-onset diabetes of the young type 3 (MODY 3) and premature ovarian insufficiency (POI). There is no known correlation between MODY 3 and POI, although POI can impair glucose metabolism, and MODY can cause microvascular complications such as POI. We did not find literature describing a correlation between these two pathologies nor did we find similar cases described in the literature.

Learning points

  • Maturity-onset diabetes of the young type 3 (MODY 3) is an infrequent cause of diabetes that should be considered in young patients with atypical presentation of type 1 or type 2 diabetes.

  • MODY 3 can be associated with microvascular complications of diabetes, which is why it is important to diagnose as early as possible.

  • Impairment of glucose metabolism has been demonstrated in patients with premature ovarian insufficiency and menopause.

Open access

Megha Verma and Stephen I Stone

Summary

We identified an adolescent young woman with new-onset diabetes. Due to suspicious family history, she underwent genetic testing for common monogenic diabetes (MODY) genes. We discovered that she and her father carry a novel variant of uncertain significance in the HNF1A gene. She was successfully transitioned from insulin to a sulfonylurea with excellent glycemic control. Based on her family history and successful response to sulfonylurea, we propose that this is a novel pathogenic variant in HNF1A. This case highlights the utility of genetic testing for MODY, which has the potential to help affected patients control their diabetes without insulin.

Learning points

  • HNF1A mutations are a common cause of monogenic diabetes in patients presenting with early-onset diabetes and significant family history.

  • Genetic testing in suspected patients allows for the identification of mutations causing monogenic diabetes.

  • First-degree relatives of the affected individual should be considered for genetic testing.

  • The use of sulfonylurea agents in patients with HNF1A-MODY can reduce dependence on insulin therapy and provide successful glycemic control.

Open access

Maheswaran Dhanasekaran, Siddharth Narayanan, Ioannis Mastoris, and Suchita Mehta

Summary

Sodium-glucose cotransporter-2 inhibitors (SGLT2i) induce osmotic diuresis by inhibiting the proximal renal tubular reabsorption of the filtered glucose load, which in turn can occasionally lead to severe dehydration and hypotension amidst other adverse effects. We present a case of a 49-year-old man with type 2 diabetes mellitus (T2D) on canagliflozin, a SGLT2i. The patient was brought to the emergency room following a motor vehicle accident. He was confused and had an altered mental status. His blood alcohol and urine toxicology screens were negative. Initial investigations revealed that he had severe hyponatremia with euglycemic ketoacidosis. The adverse condition was reversed with close monitoring and timely management, and the patient was eventually discharged. This is the first report to suggest hyponatremia as a potentially serious adverse effect following SGLT2i therapy. Its impact on the renal tubule handling of sodium and water is not yet well characterized. While further studies are warranted to understand better the pathophysiological mechanisms associated with SGLT2i-induced adverse effects, timely dose reduction or perhaps even its temporary discontinuation may be recommended to prevent complications.

Learning points

  • Sodium-glucose cotransporter-2 inhibitors (SGLT2i) are usually well-tolerated, but some serious adverse effects have been documented.

  • Our case report suggests hyponatremia as a potential, rare side effect of SGLT2i and makes physicians aware of the occurrence of such life-threatening but preventable complications.

  • Timely and close monitoring of the patient, with temporary discontinuation of this drug, may be recommended towards effective management.

  • Studies demonstrating a comprehensive understanding of SGLT2i-related electrolyte derangements are warranted.

Open access

Anneke Graf, Eleni Armeni, Louise Dickinson, Matthew Stubbs, Brian Craven, Umasuthan Srirangalingam, and Teng-Teng Chung

Summary

Rare cases of vaccine-induced Immune thrombocytopenia and thrombosis (VITT) are being identified after vaccination with the SARS-CoV-2 Oxford–AstraZeneca vaccination. We report on two such patients with associated adrenal involvement, which is now being recognised. Both patients presented with abdominal pain, back pain and vomiting. Case 1 was a 46-year-old male who had received the first dose of the Oxford–AstraZeneca vaccination 8 days earlier. Imaging demonstrated a number of serious thrombotic complications including evolving bilateral adrenal haemorrhage (right adrenal haemorrhage identified at presentation, with the left-sided changes only evident on day 4 of the admission). Case 2 was a 38-year-old female who had received the first dose of Oxford–AstraZeneca vaccination 11 days prior. Imaging demonstrated left renal vein thrombosis and left adrenal infarction. VITT was diagnosed in both cases given these changes and other consistent haematological findings. Both patients were treated empirically for adrenal insufficiency, a diagnosis subsequently confirmed in case 1. We report these two cases of VITT presenting with adrenal complications (haemorrhage and infarction) after Oxford–AstraZeneca vaccination to highlight the association and the need for prompt management of co-existing adrenal insufficiency, especially given the potential for evolving adrenal involvement.

Learning points

  • Adrenal complications (thrombosis/infarction/haemorrhage) may develop as a part of vaccine-induced immune thrombocytopenia (VITT) after SARS-CoV-2 Oxford–AstraZeneca vaccination.

  • Evolving adrenal involvement is possible and ongoing assessment is required to identify this promptly.

  • Cortisol levels may be difficult to interpret when assessing for adrenal insufficiency, given high doses of corticosteroids may be used to manage VITT.

  • Clinicians should have a low threshold for starting empirical replacement with corticosteroids until reliable assessment of adrenal function can be performed.

Open access

Vitor Scalone Netto, Gabriel Bellincanta, Guido de Paula Colares Neto, Nara Michelle de Araujo Evangelista, Carolina Costa Figueiredo, Patricia Salmona, and Vânia de Fátima Tonetto-Fernandes

Summary

We describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)). At the age of 7, she developed type 1 diabetes mellitus and started insulin therapy with multiple daily doses, and then she started to use a continuous insulin infusion system (pump) at 10 years of age. At the age of 12, she underwent a molecular study that identified an unbalanced translocation between the short arms of chromosomes 6 and 8 – 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22−).

Learning points

  • Patients with an unbalanced translocation between the short arms of chromosomes 6 and 8 – 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present syndromic features suggestive of chromosome 8 trisomy.

  • Main characteristics are a prominent forehead, ocular and breast hypertelorism, ocular, external ear and palate abnormalities, a short neck, heart defects, and developmental delay.

  • Patients with 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present autoimmune type 1 diabetes mellitus.

  • Karyotyping is an essential tool for the diagnosis of chromosomal changes, but it has some limitations.

  • Multiplex ligation-dependent probe amplification, array-single nucleotide polymorphism and fluorescence in situ hybridization can help diagnose genetic syndromes in patients with atypical evolution.

Open access

Elaine E Sanderson, Mark Shah, Amanda J Hooper, Damon A Bell, and Catherine S Choong

Summary

We report a case of an 11-year-old girl presenting with a new diagnosis of diabetes associated with a heterozygous missense mutation in the insulin receptor (INSR) gene. This case highlights that INSR gene variants can be a cause for monogenic diabetes in children and adolescents and the need for genetic evaluation in atypical presentations of diabetes. We also describe the possible role of metformin in treating individuals with type A insulin resistance syndrome due to INSR gene variants.

Learning points

  • Insulin receptor (INSR) gene variants can be a cause of monogenic diabetes in children and adolescents.

  • Genetic evaluation should be considered in children and adolescents with type 2 diabetes (T2D), particularly where there is an atypical presentation and/or positive family history.

  • Metformin may have a role in the treatment of type A insulin resistance syndrome due to heterozygous mutation of the INSR gene.

Open access

Arunan Sriravindrarajah, Amelia Fernandes, Ted Wu, and Samantha Hocking

Summary

Maturity-onset diabetes of the young type 3 (MODY3) accounts for approximately 50% of cases of MODY. First-line treatment with sulfonylureas has been well established for individuals with MODY3. In contrast, the use of sodium-glucose co-transporter 2 (SGLT2) inhibitors in the treatment of individuals with MODY3 remains unclear. This case illustrates the in vivo effect of an SGLT2 inhibitor in a 30-year-old woman with MODY3 with poor glycaemic control despite the treatment with supramaximal doses of sulfonylurea and metformin. The addition of a SGLT2 inhibitor resulted in a rapid improvement in glycaemic control without any hypoglycaemic episodes. This case suggests that SGLT2 inhibitors may be an effective and potent treatment option in addition to sulfonylureas for individuals with MODY3.

Learning points

  • Maturity-onset diabetes of the young type 3 (MODY3) arises from mutations in the hepatocyte nuclear factor-1alpha gene, which controls the expression of sodium-glucose co-transporter 2 (SGLT2) in the kidneys.

  • Paradoxically, despite individuals with MODY3 having reduced expression of SGLT2, SGLT2 inhibitors induce higher glycosuria in individuals with MODY3 compared to individuals with type 2 diabetes mellitus.

  • SGLT2 inhibitors may be an effective treatment for achieving glycaemic control in individuals with MODY3.

Open access

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.

Open access

Darran Mc Donald, Tara Mc Donnell, Rachel Katherine Crowley, and Elizabeth Brosnan

Summary

Hyponatraemia is the most common electrolyte disturbance in hospitalised patients and is associated with numerous adverse outcomes. Patients with schizophrenia are particularly susceptible to hyponatraemia, in part due to the close association between this condition and primary polydipsia. We report the case of a 57-year-old woman with schizophrenia and primary polydipsia who was receiving inpatient psychiatric care. She became increasingly confused, had multiple episodes of vomiting, and collapsed 1 week after being commenced on quetiapine 300 mg. On examination, she was hypertensive and her Glasgow coma scale was nine. She had a fixed gaze palsy and a rigid, flexed posture. Investigations revealed extreme hyponatraemia with a serum sodium of 97 mmol/L. A CT brain demonstrated diffused cerebral oedema with sulcal and ventricular effacement. A urine sodium and serum osmolality were consistent with SIAD, which was stimulated by the introduction of quetiapine. The antidiuretic effect of vasopressin limited the kidney’s ability to excrete free water in response to the patients' excessive water intake, resulting in extreme, dilutional hyponatraemia. The patient was treated with two 100 mL boluses of hypertonic 3% saline but deteriorated further and required intubation. She had a complicated ICU course but went on to make a full neurological recovery. This is one of the lowest sodium levels attributed to primary polydipsia or second-generation antipsychotics reported in the literature.

Learning points

  • The combination of primary polydipsia and SIAD can lead to a life-threatening, extreme hyponatraemia.

  • SIAD is an uncommon side effect of second-generation anti-psychotics.

  • Serum sodium should be monitored in patients with primary polydipsia when commencing or adjusting psychotropic medications.

  • Symptomatic hyponatraemia is a medical emergency that requires treatment with boluses of hypertonic 3% saline.

  • A serum sodium of less than 105 mmol/L is associated with an increased risk of osmotic demyelination syndrome, therefore the correction should not exceed 8 mmol/L over 24 h.