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Sara Lomelino-Pinheiro Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Bastos Margarida Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Adriana de Sousa Lages Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Summary

Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) characterized by profound hypomagnesemia associated with hypocalcemia. It is caused by mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6). It usually presents with neurological symptoms in the first months of life. We report a case of a neonate presenting with recurrent seizures and severe hypomagnesemia. The genetic testing revealed a novel variant in the TRPM6 gene. The patient has been treated with high-dose magnesium supplementation, remaining asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to prevent irreversible neurological damage.

Learning points:

  • Loss-of-function mutations of TRPM6 are associated with FHSH.

  • FHSH should be considered in any child with refractory hypocalcemic seizures, especially in cases with serum magnesium levels as low as 0.2 mM.

  • Normocalcemia and relief of clinical symptoms can be assured by administration of high doses of magnesium.

  • Untreated, the disorder may be fatal or may result in irreversible neurological damage.

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Florence Gunawan Barwon Health, Geelong University Hospital, Geelong, Victoria, Australia

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Elizabeth George Barwon Health, Geelong University Hospital, Geelong, Victoria, Australia

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Mark Kotowicz Barwon Health, Geelong University Hospital, Geelong, Victoria, Australia

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Summary

Denosumab is a fully human MAB that acts as a potent anti-resorptive by inhibiting activation of osteoclasts by inhibiting the receptor activator of nuclear factor-kappa B (RANK) ligand. Hypocalcaemia has been reported as one of the serious adverse sequelae of use of denosumab. We present a case of refractory hypocalcaemia following administration of a single dose of denosumab in a patient with metastatic castrate-resistant prostate cancer. The patient’s serum calcium and vitamin D concentrations and renal function were normal prior to denosumab administration. Serum alkaline phosphatase (ALP) level was however elevated pre-morbidly consistent with known bone metastases. The patient was treated with high-dose oral and IV calcium without any appreciable response in serum calcium. During his 30-day hospital admission, he demonstrated disease progression with development of new liver metastases and bone marrow involvement. Normocalcaemia was not achieved despite 1 month of aggressive therapy. Given the patient was asymptomatic and prognosis guarded, he was eventually discharged for ongoing supportive care under the palliative care team.

Learning points:

  • Denosumab is a potent anti-resorptive therapy and hypocalcaemia is one of the known adverse effects.

  • Serum calcium and vitamin D concentrations must be replete prior to administration of denosumab to reduce the risk of hypocalcaemia.

  • Denosumab has been proven to be more effective than zoledronic acid in preventing skeletal-related adverse effects in patients with metastatic castrate-resistant prostate cancer.

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Katta Sai Department of Internal Medicine, Saint Vincent Hospital at Worcester Medical Center, Worcester, Massachusetts, USA

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Amos Lal Department of Internal Medicine, Saint Vincent Hospital at Worcester Medical Center, Worcester, Massachusetts, USA

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Jhansi Lakshmi Maradana Department of Internal Medicine, Saint Vincent Hospital at Worcester Medical Center, Worcester, Massachusetts, USA

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Pruthvi Raj Velamala Department of Internal Medicine, Saint Vincent Hospital at Worcester Medical Center, Worcester, Massachusetts, USA

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Trivedi Nitin Department of Endocrinology, Diabetes, and Metabolism, Saint Vincent Hospital at Worcester Medical Center, Worcester, Massachusetts, USA

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Summary

Mifepristone is a promising option for the management of hypercortisolism associated with hyperglycemia. However, its use may result in serious electrolyte imbalances, especially during dose escalation. In our patient with adrenocorticotropic hormone-independent macro-nodular adrenal hyperplasia, unilateral adrenalectomy resulted in biochemical and clinical improvement, but subclinical hypercortisolism persisted following adrenalectomy. She was started on mifepristone. Unfortunately, she missed her follow-up appointments following dosage escalation and required hospitalization at an intensive care level for severe refractory hypokalemia.

Learning points:

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Eseoghene Ifie Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK

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Samson O Oyibo Department of Endocrinology, Peterborough City Hospital, Peterborough, UK

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Hareesh Joshi Department of Endocrinology, Peterborough City Hospital, Peterborough, UK

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Olugbenro O Akintade Department of Elderly Care Medicine, Peterborough City Hospital, Peterborough, UK

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Summary

Iron (ferric carboxymaltose) infusion therapy is used to treat severe iron deficiency which is not responding to the first-line oral iron therapy. However, it can also cause severe renal wasting of phosphate resulting in severe hypophosphataemia in some patients. Despite the growing number of case reports, this side effect is not well known to healthcare professionals. The product labelling information sheet does mention that hypophosphataemia can be a side effect, but also says that this side effect is usually transient and asymptomatic. We report a challenging case of a patient who developed severe, symptomatic and prolonged hypophosphataemia after an intravenous iron infusion for severe iron deficiency.

Learning points:

  • Clinicians prescribing ferric carboxymaltose (Ferinject®) should be aware of the common side effect of hypophosphataemia, which could be mild, moderate or severe.

  • Patients receiving iron infusion should be educated concerning this potential side effect.

  • Pre-existing vitamin D deficiency, low calcium levels, low phosphate levels or raised parathyroid hormone levels may be risk factors, and these should be evaluated and corrected before administering intravenous iron.

  • Patients may require phosphate and vitamin D replacement along with monitoring for a long period after iron infusion-induced hypophosphataemia.

  • Every incident should be reported to the designated body so that the true prevalence and management thereof can be ascertained.

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Bidhya Timilsina Department of Internal Medicine, Diabetes and Metabolism, Department of Medicine, Reading Hospital, Reading, Pennsylvania, USA

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Niranjan Tachamo Department of Internal Medicine, Diabetes and Metabolism, Department of Medicine, Reading Hospital, Reading, Pennsylvania, USA

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Prem Raj Parajuli Department of Internal Medicine, Diabetes and Metabolism, Department of Medicine, Reading Hospital, Reading, Pennsylvania, USA

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Ilan Gabriely Section of Endocrinology, Diabetes and Metabolism, Department of Medicine, Reading Hospital, Reading, Pennsylvania, USA

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Summary

A 74-year-old woman presented with progressive lethargy, confusion, poor appetite and abdominal pain. She was found to have non-PTH-mediated severe hypercalcemia with renal failure and metabolic alkalosis. Extensive workup for hypercalcemia to rule out alternate etiology was unrevealing. Upon further questioning, she was taking excess calcium carbonate (Tums) for her worsening heartburn. She was diagnosed with milk-alkali syndrome (MAS). Her hypercalcemia and alkalosis recovered completely with aggressive hydration along with improvement in her renal function. High index of suspicion should be maintained and history of drug and supplements, especially calcium ingestion, should be routinely asked in patients presenting with hypercalcemia to timely diagnose MAS and prevent unnecessary tests and treatments.

Learning points:

  • Suspect milk-alkali syndrome in patients with hypercalcemia, metabolic alkalosis and renal failure, especially in context of ingestion of excess calcium-containing supplements.

  • Careful history of over-the-counter medications, supplements and diet is crucial to diagnose milk-alkali syndrome.

  • Milk-alkali syndrome may cause severe hypercalcemia in up to 25–30% of cases.

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Ali A Zaied Divisions of Pulmonary and Critical Care Medicine, Mayo Clinic, Jacksonville, Florida, USA

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Halis K Akturk Divisions of Endocrinology, Mayo Clinic, Jacksonville, Florida, USA

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Richard W Joseph Divisions of Hematology and Oncology, Mayo Clinic, Jacksonville, Florida, USA

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Augustine S Lee Divisions of Pulmonary and Critical Care Medicine, Mayo Clinic, Jacksonville, Florida, USA

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Summary

Nivolumab, a monoclonal antibody against programmed cell death-1 receptor, is increasingly used in advanced cancers. While nivolumab use enhances cancer therapy, it is associated with increased immune-related adverse events. We describe an elderly man who presented in ketoacidosis after receiving nivolumab for metastatic renal cell carcinoma. On presentation, he was hyperpneic and laboratory analyses showed hyperglycemia and anion-gapped metabolic acidosis consistent with diabetic ketoacidosis. No other precipitating factors, besides nivolumab, were identified. Pre-nivolumab blood glucose levels were normal. The patient responded to treatment with intravenous fluids, insulin and electrolyte replacement. He was diagnosed with insulin-dependent autoimmune diabetes mellitus secondary to nivolumab. Although nivolumab was stopped, he continued to require multiple insulin injection therapy till his last follow-up 7 months after presentation. Clinicians need to be alerted to the development of diabetes mellitus and diabetic ketoacidosis in patients receiving nivolumab.

Learning points:

  • Diabetic ketoacidosis should be considered in the differential of patients presenting with metabolic acidosis following treatment with antibodies to programmed cell death-1 receptor (anti-PD-1).

  • Autoimmune islet cell damage is the presumed mechanism for how insulin requiring diabetes mellitus can develop de novo following administration of anti-PD-1.

  • Because anti-PD-1 works by the activation of T-cells and reduction of ‘self-tolerance’, other autoimmune disorders are likely to be increasingly recognized with increased use of these agents.

Open access
Carine Ghassan Richa Rafic Hariri University Hospital, Beirut, Lebanon
Department of Medicine, Endocrinology Division, Lebanese University, Hadath, Lebanon
Endocrinology Department, Rafic Hariri University Hospital, Beirut, Lebanon

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Khadija Jamal Saad Rafic Hariri University Hospital, Beirut, Lebanon
Department of Medicine, Endocrinology Division, Lebanese University, Hadath, Lebanon
Endocrinology Department, Mount Lebanon Hospital, Beirut, Lebanon

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Ali Khaled Chaaban Rafic Hariri University Hospital, Beirut, Lebanon
Department of Radiology, Beirut Governmental University Hospital, Beirut, Lebanon
Diagnostic Radiology, Radiology Department

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Mohamad Souheil El Rawas Rafic Hariri University Hospital, Beirut, Lebanon
Department of Medicine, Endocrinology Division, Lebanese University, Hadath, Lebanon
Clinical Endocrinology, Endocrinology Department, Rafic Hariri University Hospital, Beirut, Lebanon

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Summary

The objective of the study is to report a case of acute pancreatitis secondary to hypercalcemia induced by primary hyperparathyroidism in a pregnant woman at the end of the first trimester. The case included a 32-year-old woman who was diagnosed with acute pancreatitis and severe hypercalcemia refractory to many regimens of medical therapy in the first trimester of pregnancy. She was successfully treated with parathyroidectomy in the early second trimester with complete resolution of hypercalcemia and pancreatitis. Neonatal course was unremarkable. To our best knowledge, this is a rare case when primary hyperparathyroidism and its complications are diagnosed in the first trimester of pregnancy. In conclusion, primary hyperparathyroidism is a rare life-threatening condition to the fetus and mother especially when associated with complications such as pancreatitis. Early therapeutic intervention is important to reduce the morbidity and mortality. Parathyroidectomy performed in the second trimester can be the only solution.

Learning points:

  • Learning how to make diagnosis of primary hyperparathyroidism in a woman during the first trimester of pregnancy.

  • Understanding the complications of hypercalcemia and be aware of the high mortality and sequelae in both fetus and mother.

  • Providing the adequate treatment in such complicated cases with coordinated care between endocrinologists and obstetricians to ensure optimal outcomes.

Open access
C E Stiles Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK

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R Thuraisingham Department of Nephrology, Barts Health NHS Trust, London, UK

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D Bockenhauer UCL centre for Nephrology and Great Ormond Street Hospital NHS Trust, London, UK

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L Platts North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital NHS Trust, London, UK

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A V Kumar North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Trust, London, UK

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M Korbonits Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK

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Summary

29-year-old female presenting with an 8-year history of unexplained hypomagnesaemia, which was severe enough to warrant intermittent inpatient admission for intravenous magnesium. Urinary magnesium was inappropriately normal in the context of hypomagnesaemia indicating magnesium wasting. Ultrasound imaging demonstrated unilateral renal cysts and computed tomography of kidneys, ureters and bladder showed a bicornuate uterus. Referral to genetic services and subsequent testing revealed a de novo HNF1B deletion.

Learning points:

  • HNF1B loss-of-function mutations are one of the most common monogenic causes of congenital anomalies of the kidney and urinary tract.

  • Those with HNF1B mutations may have some of a constellation of features (renal and hepatic cysts, deranged liver function tests, maturity onset diabetes of the young type 5 (MODY5), bicornuate uterus, hyperparathyroidism, hyperuricaemic gout, but presenting features are highly heterogeneous amongst patients and no genotype/phenotype correlation exists.

  • HNF1B mutations are inherited in an autosomal dominant pattern but up to 50% of cases are de novo.

  • HNF1B mutations can be part of the Chr17q12 deletion syndrome, a contiguous gene deletion syndrome.

  • Inorganic oral magnesium replacements are generally poorly tolerated with side effects of diarrhoea. Organic magnesium compounds, such as magnesium aspartate, are better absorbed oral replacement therapies.

Open access
Maria Cabrer Endocrine Unit, Hospital Comarcal d’Inca, Inca, Spain

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Guillermo Serra Endocrine Unit, Hospital Universitari Son Espases, Palma, Spain

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María Soledad Gogorza Endocrine Unit, Hospital Universitari Son Espases, Palma, Spain

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Vicente Pereg Endocrine Unit, Hospital Universitari Son Espases, Palma, Spain

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Summary

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age.

Learning points:

  • It is important to discard genetic cause of primary hypoparathyroidism in a patient without autoimmune disease or prior neck surgery.

  • A new diagnosis of a hereditary disease has familial implications and needs genetic counselling.

  • It is also important to discard other syndrome’s comorbidities.

Open access
Nikolaos Asonitis National and Kapodistrian University of Athens, First Department of Internal Medicine, Laikon Hospital, School of Medicine, Athens, Greece
Msc Metabolic Bone Diseases, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece

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Eva Kassi National and Kapodistrian University of Athens, First Department of Internal Medicine, Laikon Hospital, School of Medicine, Athens, Greece
Msc Metabolic Bone Diseases, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece

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Michalis Kokkinos National and Kapodistrian University of Athens, First Department of Internal Medicine, Laikon Hospital, School of Medicine, Athens, Greece

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Ilias Giovanopoulos National and Kapodistrian University of Athens, First Department of Internal Medicine, Laikon Hospital, School of Medicine, Athens, Greece

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Foteini Petychaki National and Kapodistrian University of Athens, First Department of Internal Medicine, Laikon Hospital, School of Medicine, Athens, Greece

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Helen Gogas National and Kapodistrian University of Athens, First Department of Internal Medicine, Laikon Hospital, School of Medicine, Athens, Greece

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Summary

Hypercalcemia of malignancy is the most common cause of hypercalcemia in hospitalized patients. It is associated with a poor prognosis, since it reflects an advanced cancer stage. Among all cancer in females, breast cancer is the most common malignancy, and it has the highest prevalence of hypercalcemia. Approximately 70% of patients with breast cancer have bone metastases and 10% of them will have hypercalcemia as a complication at some point in the disease. Herein, we report a 69-year-old female patient with metastatic breast cancer, who developed severe hypercalcemia in the course of her disease and was diagnosed with humoral hypercalcemia of malignancy (HHM). Intense hydration along with corticoisteroids and antiresorptive medication (calcitonin, bisphosphonates and denosumab) were administered to the patient. Despite the above treatment, serum calcium levels remain elevated and calcimimetic cinacalcet was added. Upon discontinuation of cinacalcet, calcium levels were raised and returned back to the normal levels following re-initiation of the calcimimetic. Her calcium level restored to normal, and she was discharged with the following medical treatment: denosumab monthly, and cinacalcet at a titrated dose of 90 mg per day. The patient is followed as an outpatient and 11 months later, her calcium level remained within the normal range.

Learning points:

  • Hypercalcemia of malignancy is the most common cause of hypercalcemia in hospitalized patients.

  • Breast cancer has the highest prevalence of hypercalcemia.

  • The cornerstone of therapy remains the intense hydration and intravenous bisphosphonates (preferably zoledronic acid).

  • In case of persistent hypercalcemia of malignancy, the administration of calcimimetic cinacalcet could be an additional effective therapeutic option.

Open access