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Open access

Olanzapine-induced multifactorial chylomicronaemia syndrome: a rare but important complication

Bridget Cooper, Kenrick Blaker, and Jerry R Greenfield

Summary

We present a case of a 42-year-old man who developed acute onset severe hypertriglyceridaemia within days of commencing olanzapine therapy. Despite having a family history of metabolic syndrome, he had no personal history of hyperlipidaemia and had normal fasting lipids 1 week prior to treatment initiation. His case is consistent with a diagnosis of multifactorial chylomicronaemia syndrome with a possible undiagnosed underlying genetic lipid metabolism disorder. Our case highlights the difficulty in identifying patients at risk of severe hypertriglyceridaemia prior to the commencement of olanzapine.

Learning points

  • Atypical antipsychotic medications, in particular olanzapine and clozapine, are associated with metabolic side effects.

  • Olanzapine can precipitate acute onset severe hypertriglyceridaemia consistent with multifactorial chylomicronaemia syndrome.

  • It is difficult to predict individuals at risk of olanzapine-induced hypertriglyceridaemia.

  • This case demonstrates the importance of metabolic screening prior to the commencement of olanzapine and the possibility of repeating fasting serum lipids soon thereafter.

DOI:
https://doi.org/10.1530/EDM-22-0225
Volume 2023: Issue 1
Open access

Pyogenic spondylitis due to Streptococcus agalactiae with paraspinal abscess and vertebral destruction in a diabetic patient: time course of imagings

Tomoko Kobayashi, Takuya Iwata, Katsunari Handa, and Hiroshi Arima

Summary

A 76-year-old female with type 2 diabetes mellitus presented with hematuria, low back pain, and intermittent fever for 7 days. She was admitted to our hospital and diagnosed with Streptococcus agalactiae (GBS) bacteremia. CT showed an air density within the right iliopsoas muscle, and an MRI of the spine revealed hyperintensity in the right half of the L1–L2 intervertebral disk, leading to the diagnosis of a paraspinal abscess and L1–L2 pyogenic spondylitis. Antibiotic therapy was started and the clinical symptoms, as well as serologic biomarkers and radiologic images of the paraspinal abscess, were improved. The therapy was stopped on day 72 despite vertebral destruction progression. Vertebral endplate ossification was observed on day 108, and further bone formation was noted on day 177. Our case study with radiologic findings over 6 months demonstrated how bone destruction with pyogenic spondylitis, which had been treated with antibiotic therapy, improved after cessation of antibiotics.

Learning points

  • Although GBS is a rare cause of spondylitis, diabetic mellitus is a risk factor for the development of invasive GBS infections, especially under poor glycemic control.

  • Bone destruction of pyogenic spondylitis can improve after discontinuation of antibiotic therapy.

  • It may be important to decide the period of antibiotic therapy based on clinical conditions, serologic biomarkers, and soft tissue findings rather than bone findings.

  • When elderly diabetic patients present with back pain and fever, spondylitis should be considered in the differential diagnosis to avoid potential diagnostic delays or misdiagnosis.

DOI:
https://doi.org/10.1530/EDM-22-0305
Volume 2023: Issue 1
Open access

A case of NASH with genetic predisposition successfully treated with an SGLT2 inhibitor: a possible involvement of mitochondrial dysfunction

Rikako Nakajima, Motohiro Sekiya, Yasuhisa Furuta, Takafumi Miyamoto, Masashi Sato, Kuniaki Fukuda, Keiichiro Hattori, Yasuhito Suehara, Mamiko Sakata-Yanagimoto, Shigeru Chiba, Yuka Okajima, Takashi Matsuzaka, Satoru Takase, Mikio Takanashi, Hiroaki Okazaki, Yusuke Takashima, Mikiko Yuhara, Yuta Mitani, Nako Matsumoto, Yuki Murayama, Mariko Ohyama Osawa, Nami Ohuchi, Daichi Yamazaki, Sayuri Mori, Yoko Sugano, Yoshinori Osaki, Hitoshi Iwasaki, Hiroaki Suzuki, and Hitoshi Shimano

Summary

In this study, we herein describe a 47-year-old Japanese woman who manifested inheritable non-alcoholic steatohepatitis (NASH) and severe dyslipidemia. Interestingly, her NASH progression was ameliorated by treatment with a sodium–glucose co-transporter 2 (SGLT2) inhibitor. This inheritability prompted us to comprehensively decode her genomic information using whole-exome sequencing. We found the well-established I148M mutation in PNPLA3 as well as mutations in LGALS3 and PEMT for her NASH. Mutations in GCKR may contribute to both NASH and dyslipidemia. We further mined gene mutations potentially responsible for her manifestations that led to the identification of a novel M188fs mutation in MUL1 that may be causally associated with her mitochondrial dysfunction. Our case may provide some clues to better understand this spectrum of disease as well as the rationale for selecting medications.

Learning points

  • While the PNPLA3 I148M mutation is well-established, accumulation of other mutations may accelerate susceptibility to non-alcoholic steatohepatitis (NASH).

  • NASH and dyslipidemia may be intertwined biochemically and genetically through several key genes.

  • SGLT2 inhibitors emerge as promising treatment for NASH albeit with interindividual variation in efficacy. Genetic background may explain the mechanisms behind the variation.

  • A novel dysfunctional mutation in MUL1 may lead to metabolic inflexibilities through impaired mitochondrial dynamics and function.

DOI:
https://doi.org/10.1530/EDM-22-0368
Volume 2022: Issue 1
Open access

Efficacy of metformin versus sulfonylurea derivative in HNF4A-MODY

Nicole Oosterom, Niala den Braber, and Gozewijn D Laverman

Summary

This study compares the effects of metformin, sulfonylurea derivative (SU) and no treatment in HNF4A-MODY on glycemic control. In two patients with HNF4A-MODY, we changed the existing metformin treatment to SU derivative. The effect on the glycemic control was registered with a Freestyle Libre Flash glucose monitoring device. Each treatment period had a duration of 2 consecutive weeks, and in between, an intermediate period without medication. Data from the first 2 days after changing medications were excluded. We calculated time in range (TIR), and differences in the mean glucose level were tested with a one-way ANOVA test. The 24-h average glucose levels were significantly lower with either metformin (7.7 mmol/L; P < 0.001 and 6.3 mmol/L; P < 0.001) or gliclazide (7.6 mmol/L; P < 0.001 and 5.8 mmol/L; P < 0.001) compared to no treatment (9.4 and 8.9 mmol/L). The TIR with metformin or gliclazide was higher than without treatment (patient 1: 87 and 83 vs 61% and patient 2: 83 and 93 vs 67%). Treatment with either metformin or gliclazide effectively decreases blood glucose, rendering both drugs appropriate for treating HNF4A-MODY.

Learning points

  • HNF4A-MODY has a mild phenotype.

  • Blood glucose was responsive to long-term metformin treatment in HNF4A-MODY.

  • Metformin and gliclazide seem appropriate treatments for HNF4A-MODY.

DOI:
https://doi.org/10.1530/EDM-22-0292
Volume 2022: Issue 1
Open access

Incidental finding of non-alcoholic steatohepatitis-cirrhosis

Therese Adrian, Mads Hornum, Filip Krag Knop, and Lise Lotte Gluud

Summary

A 72-year-old man with type 2 diabetes volunteered to participate in the control group of a clinical study. The study evaluated non-alcoholic fatty liver disease in patients with kidney disease. The patient was followed at a gastroenterology department due to Crohn’s disease and post-operative bile acid malabsorption. The patient had no symptoms or biochemical findings suggesting liver disease. Surprisingly, a transient elastography (FibroScan®) suggested advanced fibrosis with a median of 16.1 kPa. A liver biopsy showed non-alcoholic steatohepatitis (NASH)-cirrhosis. The diagnosis was only made incidentally and highlights how NASH-cirrhosis may be overlooked due to the lack of symptoms.

Learning points

  • Clinicians treating high-risk populations, including patients with type 2 diabetes and/or components of the metabolic syndrome, should be aware of the frequently occurring co-existence with non-alcoholic fatty liver disease (NAFLD) and especially non-alcoholic steatohepatitis (NASH).

  • Liver enzymes may be in the normal range even in people with steatosis, NASH, or even cirrhosis.

  • The diagnosis of NAFLD should include evaluation of hepatic fibrosis as this is the most important prognostic factor for liver-related complications and mortality.

  • Guidelines about systematic screening for NAFLD in patients with type 2 diabetes are incongruent.

DOI:
https://doi.org/10.1530/EDM-22-0350
Volume 2022: Issue 1
Open access

Nesidioblastosis: an uncommon complication seen post Roux-en-Y gastric bypass

Kiveum Kim, Jacob Lim Greenspan, Shaheen Mehrara, David Wynne, and Elizabeth Ennis

Summary

Adult-onset nesidioblastosis is a rare complication of Roux-en-Y gastric bypass surgery and may occur months to years after the initial surgical procedure. It is manifested by a hyperinsulinemic, hypoglycemic state. The annual incidence of adult-onset hyperinsulinemic hypoglycemia is believed to be less than 0.1 in 1 000 000 with a mean age of onset of 47 years (). Here, we describe a patient who presented with worsening hypoglycemic symptoms for 1 year prior to presentation that eventually progressed to hypoglycemic seizures. The onset of this hypoglycemia was 5 years after Roux-en-Y gastric bypass surgery. A full neurological evaluation, which included an EEG, head CT, and MRI, was performed to rule out epilepsy and other seizure-related disorders. After hypoglycemia was confirmed, extensive laboratory studies were obtained to elucidate the cause of the hypoglycemia and differentiate nesidioblastosis from insulinoma. Once the diagnosis of nesidioblastosis was established, a sub-total pancreatectomy was performed, and the patient was discharged and placed on acarbose, a competitive reversible inhibitor of pancreatic α-amylase and intestinal brush border α-glucosidases which slows carbohydrate absorption. The lack of information and understanding of nesidioblastosis due to its rarity makes any knowledge of this rare but important surgical complication essential. As incidence of obesity increases, the number of gastric bypasses being performed increases with it, and understanding this disease process will be essential for the primary care provider. This is the primary reason for the writing of this publication.

Learning points

  • Nesidioblastosis is a persistent hyperinsulinemic, hypoglycemic state, mostly seen after Roux-en-Y gastric bypass surgery, with symptoms occurring postprandially.

  • The incidence is 0.1–0.3% of all post Roux-en-Y gastric bypass patients.

  • The key diagnostic clue to identifying nesidioblastosis is a positive selective arterial calcium stimulation test, showing a diffuse pattern of increased basal hepatic venous insulin concentration, whereas insulinomas would show focal increases.

  • Pathological specimen of pancreas will show diffuse hypertrophy of beta cells.

  • Management includes acarbose and total or subtotal pancreatectomy, which can be curative.

  • With the prevalence of obesity increasing and more patients turning to Roux-en-Y gastric bypass, more patients may be at risk of this potential surgical complication.

DOI:
https://doi.org/10.1530/EDM-22-0361
Volume 2022: Issue 1
Open access

Tumor-induced osteomalacia treated with T12 tumor resection

Alyssa J Mancini, Amin Sabet, Gunnlaugur Petur Nielsen, J Anthony Parker, Joseph H Schwab, Ashley Ward, Jim S Wu, and Alan O Malabanan

Summary

Tumor-induced osteomalacia (TIO) is a rare form of osteomalacia caused by fibroblast growth factor-23 (FGF23)-secreting tumors. Most of these tumors are phosphaturic mesenchymal tumors (PMTs) typically involving soft tissue in the extremities and bone of the appendicular skeleton and cranium. We report the case of a 60-year-old woman with about 3 years of persistent bone pain and multiple fractures, initially diagnosed as osteoporosis, who was found to have hypophosphatemia with low 1,25-dihydroxyvitamin D and elevated alkaline phosphatase and inappropriately normal FGF23 consistent with TIO. Her symptoms improved with phosphate supplementation, vitamin D and calcitriol. 68Ga-DOTATATE imaging revealed a T12 vertebral body lesion confirmed on biopsy to be a PMT. She underwent resection of the PMT with resolution of TIO and increased bone density. This rare case of TIO secondary to a PMT of the thoracic spine highlights some of the common features of PMT-associated TIO and draws attention to PMT-associated TIO as a possible cause of unexplained persistent bone pain, a disease entity that often goes undiagnosed and untreated for years.

Learning points

  • Tumor-induced osteomalacia (TIO) is typically caused by phosphaturic mesenchymal tumors (PMTs) that are usually found in the soft tissue of the extremities and bone of the appendicular skeleton/cranium and rarely in the spine.

  • TIO may be misdiagnosed as osteoporosis or spondyloarthritis, and the correct diagnosis is often delayed for years. However, osteoporosis, in the absence of fracture, is not associated with bone pain.

  • The hallmark of TIO is hypophosphatemia with inappropriately normal or low 1,25-dihydroxyvitamin D and elevated or inappropriately normal fibroblast growth factor-23 (FGF23) levels.

  • In patients with unexplained persistent bone pain, a serum phosphate should be measured. Consider PMT-associated TIO as a potential cause of unexplained persistent bone pain and hypophosphatemia.

  • PMTs express somatostatin receptors and may be identified with 68Ga-DOTATATE imaging.

  • Complete surgical resection is the preferred treatment for spinal PMTs associated with TIO.

DOI:
https://doi.org/10.1530/EDM-22-0344
Volume 2022: Issue 1
Open access

Acute presentation of immunotherapy-related diabetes mellitus without ketoacidosis, low C-peptide or elevated HbA1c

Cun An Phang, Shejil Kumar, and Peter Rohl

Summary

The rapid rise in the use of immune checkpoint inhibitors as systemic cancer therapy has seen the emergence of immunotherapy-induced diabetes, a severe irreversible immunotherapy-related adverse event. Affected patients typically present with diabetic ketoacidosis (DKA) and low C-peptide consistent with insulin deficiency secondary to autoimmune β-cell destruction. We present the unusual case of a 61-year-old female with metastatic ampullary duodenal adenocarcinoma with primary tumour adjacent to the pancreatic head. She was commenced on immunotherapy after conventional systemic chemotherapy. Acute-onset hyperglycaemia was detected after 7 weeks on weekly blood glucose monitoring, with no glucocorticoid use or prior history of diabetes. On presentation, there was no evidence of DKA, and her glycated haemoglobin level was within the normal non-diabetic range at 5.3%, reflecting the acuity of her presentation. Initial serum C-peptide was preserved; however, it became undetectable a few weeks later, confirming insulin deficiency. We describe a case of atypical presentation of immunotherapy-induced diabetes, review the existing literature on this emerging clinical entity and discuss the differential diagnosis for new-onset diabetes mellitus in patients with metastatic cancer.

Learning points

  • Regular proactive glycaemic monitoring in patients receiving immunotherapy, particularly antibodies against programmed death ligand 1 and PD1, can facilitate very early detection of immunotherapy-induced diabetes, prompting insulin commencement and avoiding life-threatening presentations of diabetic ketoacidosis.

  • Glycated haemoglobin can be within the normal range in patients diagnosed acutely with immunotherapy-induced diabetes.

  • Serum C-peptide can be preserved initially in patients diagnosed with immunotherapy-induced diabetes but is likely to become undetectable during their illness.

  • New-onset diabetes in patients with metastatic cancer carries a broad differential diagnosis.

DOI:
https://doi.org/10.1530/EDM-22-0291
Volume 2022: Issue 1
Open access

Adult-onset nesidioblastosis: a challenging diagnosis revealed by glucagon-like-peptide-1 receptor imaging

Sophie Demartin, Pierre Goffette, Emanuel Christ, Martin T Freitag, Dominique Maiter, and Raluca Maria Furnica

Summary

A 52-year-old female presented with recurrent episodes of fasting or post-absorptive hypoglycemia. A 72-h fasting test confirmed endogenous hyperinsulinemia. Conventional imaging was unremarkable. Selective pancreatic arterial calcium stimulation and hepatic venous sampling showed a maximum calcium-stimulated insulin concentration from several pancreatic areas, mainly the proximal splenic artery and the proximal gastroduodenal artery, suggesting the presence of one or more occult insulinoma(s) in the region of the pancreatic body. 68Ga-DOTA-exendin-4 PET/CT showed however generalized increased uptake in the pancreas and a diagnosis of nesidioblastosis was therefore suspected. The patient has been since successfully treated with dietetic measures and diazoxide. Treatment efficacy was confirmed by a flash glucose monitoring system with a follow-up of 7 months.

Learning points

  • Adult nesidioblastosis is a rare cause of endogenous hyperinsulinemic hypoglycemia.

  • The distinction between insulinoma and nesidioblastosis is essential since the therapeutic strategies are different.

  • 68Ga-DOTA-exendin-4 PET/CT emerges as a new noninvasive diagnostic tool for the localization of an endogenous source of hyperinsulinemic hypoglycemia.

  • Medical management with dietetic measures and diazoxide need to be considered as a valuable option to treat patients with adult nesidioblastosis.

  • Flash glucose monitoring system is helpful for the evaluation of treatment efficacy.

DOI:
https://doi.org/10.1530/EDM-22-0325
Volume 2022: Issue 1
Open access

Myopathic dysphagia caused by thyrotoxicosis: a case report and review of the literature

Raad Alwithenani, Danielle M Andrade, Lingxin Zhang, and Karen E Gomez-Hernandez

Summary

Myopathy caused by thyrotoxicosis is not uncommon. Skeletal muscles are commonly involved, but dysphagia is a rare manifestation of thyrotoxicosis. We aim to raise awareness of dysphagia caused by hyperthyroidism and review similar cases in the literature. We present a case of severe dysphagia caused by hyperthyroidism. We also summarize similar case reports in the literature. Our patient is a 77-year-old man who presented with thyrotoxicosis related to Graves’ disease (GD), dysphagia to both liquid and solid food, and weight loss. Further investigations revealed severe esophageal dysphagia and a high risk for aspiration. He required the placement of a G-tube for feeding. After 8 weeks of methimazole treatment, his thyroid function normalized and his dysphagia improved significantly, leading to the removal of the feeding G-tube. We summarize 19 case reports published in the literature of hyperthyroidism leading to dysphagia. Patients with thyrotoxicosis and dysphagia are at higher risk for aspiration pneumonia and thyroid storm. Based on previous case reports, on average, approximately 3 weeks of treatment with anti-thyroidal drugs and beta-blockers is needed before patients can eat normally. We report a case of dysphagia associated with GD, which is rare and needs prompt recognition to restore euthyroid status. Dysphagia generally resolved with normalization of thyroid function.

Learning points

  • Myopathy caused by thyrotoxicosis is not uncommon.

  • Skeletal muscles are commonly involved, but dysphagia is a rare manifestation of thyrotoxicosis.

  • Dysphagia due to hyperthyroidism resolves with normalization of thyroid function.

  • Early recognition of dysphagia related to hyperthyroidism and early initiation of therapy may help reverse the dysphagia and prevent complications.

DOI:
https://doi.org/10.1530/EDM-21-0175
Volume 2022: Issue 1