Publication Details > Case Report Type > Insight into disease pathogenesis or mechanism of therapy

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Kimberly Voon Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, Australia

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Bronwyn G A Stuckey Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, Australia
Keogh Institute for Medical Research, Nedlands, WA, Australia
School of Medicine, University of Western Australia, Nedlands, WA, Australia

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Summary

With rising rates of adoption and surrogacy, induced lactation is likely to become increasingly relevant, allowing women who did not undergo pregnancy to breastfeed. We describe the case of a woman with complete androgen insensitivity syndrome (CAIS) on conventional oestrogen therapy who was expecting a child via surrogacy and who wished to breastfeed. The woman was commenced on supplementary oestrogen therapy, domperidone and breast stimulation by mechanical breast pump 8 weeks prior to the delivery of her child. Following delivery, the patient produced a small, unquantified amount of milk, allowing her to suckle the infant for a short period of time. Induced lactation is possible in chromosomally XY individuals. It has been most successful in cis-women and transwomen, both of whom have had progesterone/progestogen exposure to the breast. We suggest that the addition of a progestogen to our patient’s treatment regimen, either as part of her original hormone therapy or part of the lactation induction program, would have improved her changes of establishing successful lactation.

Learning points

  • Induced lactation is possible in chromosomally XY individuals with the use of pharmacological and non-pharmacological therapies.

  • There are no standardised guidelines regarding the optimal regimen for induced lactation.

  • Progesterone exposure to the breast is essential for ductal branching and alveolar maturation.

  • In the published literature, induced lactation is more successful in transwomen and other XY individuals who have had prior progesterone exposure.

  • The addition of progestogen to our patient’s treatment regimen would have improved her chances of establishing successful lactation.

Open access
Anne Cathrine Parelius Wammer Department of Endocrinology, Akershus University Hospital, Lørenskog, Norway

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Ingrid Nermoen Department of Endocrinology, Akershus University Hospital, Lørenskog, Norway
Institute of Clinical Medicine, University of Oslo, Oslo, Norway

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Per Medbøe Thorsby Institute of Clinical Medicine, University of Oslo, Oslo, Norway
Hormone Laboratory, Department of Medical Biochemistry and Biochemical Endocrinology and Metabolism Research Group, Oslo University Hospital, Aker, Norway

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Nils Bolstad Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway

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Kari Lima Department of Endocrinology, Akershus University Hospital, Lørenskog, Norway

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Hoa Tran Department of Haematology, Akershus University Hospital, Lørenskog, Norway

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Ivar Følling Department of Endocrinology, Akershus University Hospital, Lørenskog, Norway
Institute of Clinical Medicine, University of Oslo, Oslo, Norway

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Summary

We present a young woman with treatment resistant insulin autoimmune syndrome (IAS) with a protracted course. Her serum insulin level was 6945 pmol/l (<160), C-peptide 4042 pmol/L (<1480), anti-insulin antibodies 5305 U/mL (<0.4) were monoclonal IgG kappa. After 12 h of fasting, her blood glucose fell to 1.2 mmol/L. Post-meal blood glucose peaked at 12.2 mmol/L with reactive hypoglycaemia below 2 mmol/L. Frequent meals and continuous blood glucose monitoring were helpful, but further treatments advocated in the literature with prednisolone, rituximab, plasmapheresis, cyclophosphamide and ciclosporin were without beneficial effect.

Based on this case and a review of the literature, we propose that IAS is not one but two different diseases with different therapeutic strategies. The first disease, polyclonal IAS, predominates in Asia and is characterized by polyclonal anti-insulin antibodies, association with certain HLA genotypes and other autoimmune conditions, medications and viral infections possibly triggering the disease, a possible female predominance among young patients and a tendency towards spontaneous remission. The other disease, monoclonal IAS, predominates in Caucasians. Typical features are monoclonal anti-insulin antibodies, only weak HLA association, no drug predisposition, no sex difference, rare remission and conventional therapy often being without any clinical effect. We suggest that monoclonal IAS with IgG or IgA anti-insulin antibodies should receive therapy targeting plasma cells rather than lymphocytes.

Learning points

  • IAS may be considered as two separate diseases, polyclonal and monoclonal.

  • The presence of either polyclonal or monoclonal antibodies should determine the choice of treatment for IAS.

  • In polyclonal IAS, discontinuation of a triggering medication and treatment of triggering conditions should be the backbone of therapy.

  • Monoclonal IAS should receive treatment targeting plasma cells.

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Muneo Kawasumi Department of Endocrinology and Diabetes, National Hospital Organization, Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan

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Mitsunobu Kubota Department of Endocrinology and Diabetes, National Hospital Organization, Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan

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Yoko Yoshii Department of Endocrinology and Diabetes, National Hospital Organization, Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan

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Tadahiro Tokunaga Department of Rheumatology and Clinical Immunology, National Hospital Organization, Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan

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Summary

This is a report on antithyroid arthritis syndrome (AAS) which is a rare adverse effect of antithyroid agents. AAS presents with severe symptoms including myalgia, arthralgia, arthritis, fever, and skin eruption due to the use of antithyroid agents. We encountered a 55-year-old woman with severe pain in the hand and forearm and arthralgia in multiple joints, including the knee, ankle, hand, and wrist on day 23 after initiation of methimazole (MMI) for Graves’ disease. Blood tests revealed elevated inflammation markers such as C-reactive protein and interleukin-6, and magnetic resonance imaging of the hands confirmed inflammation findings. After withdrawing MMI on day 25, symptoms showed a tendency toward improvement. Afterwards, inflammation markers also dropped to an almost normal range. In addition to the above findings, the absence of anti-neutrophil cytoplasmic antibodies and most vasculitis symptoms such as nephritis, skin, or pulmonary lesions led to the diagnosis of AAS. A resolution of symptoms, except for mild arthralgia in the second to fourth fingers of the right hand, was observed 61 days after discontinuation of MMI. Although the pathogenesis is unclear, the positive drug lymphocyte stimulation test for MMI and the several weeks before the onset of AAS suggested involvement of a type IV allergic reaction. Based on a discussion of definitive treatment for Graves’ disease, radioactive iodine ablation with 131I, which was selected by the patient, was performed and improved her thyroid function. Our case demonstrates the importance of awareness regarding AAS, which is a rare and under-recognized, but life-threatening adverse effect of antithyroid agents.

Learning points

  • Clinicians should be aware of the possibility of developing antithyroid arthritis syndrome (AAS) in patients treated with antithyroid medications, which can lead to severe migratory polyarthritis.

  • Prompt cessation of the antithyroid agent is essential for the resolution of AAS.

  • Anti-neutrophil cytoplasmic antibody (ANCA) negativity is needed to differentiate from antithyroid agent-induced ANCA-associated vasculitis, which shows arthritis similar to AAS.

Open access
Rikako Nakajima Department of Endocrinology and Metabolism, Tsukuba University Hospital Mito Clinical Education and Training Center, Mito Kyodo General Hospital, Miyamachi, Mito, Ibaraki, Japan

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Hiroto Idesawa Department of Endocrinology and Metabolism, Tsukuba University Hospital Mito Clinical Education and Training Center, Mito Kyodo General Hospital, Miyamachi, Mito, Ibaraki, Japan

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Daisuke Sato Department of Endocrinology and Metabolism, Tsukuba University Hospital Mito Clinical Education and Training Center, Mito Kyodo General Hospital, Miyamachi, Mito, Ibaraki, Japan

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Jun Ito Department of Endocrinology and Metabolism, Tsukuba University Hospital Mito Clinical Education and Training Center, Mito Kyodo General Hospital, Miyamachi, Mito, Ibaraki, Japan

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Kei Ito Department of Endocrinology and Metabolism, Tsukuba University Hospital Mito Clinical Education and Training Center, Mito Kyodo General Hospital, Miyamachi, Mito, Ibaraki, Japan

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Masanao Fujii Department of Endocrinology and Metabolism, Tsukuba University Hospital Mito Clinical Education and Training Center, Mito Kyodo General Hospital, Miyamachi, Mito, Ibaraki, Japan

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Takamichi Suzuki Department of Gastrointestinal Surgery, Tsukuba University Hospital Mito Clinical Education and Training Center, Mito Kyodo General Hospital, Miyamachi, Mito, Ibaraki, Japan

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Tomoaki Furuta Department of Gastrointestinal Surgery, Tsukuba University Hospital Mito Clinical Education and Training Center, Mito Kyodo General Hospital, Miyamachi, Mito, Ibaraki, Japan

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Hitomi Kawai Department of Pathology, Tsukuba University Hospital Mito Clinical Education and Training Center, Mito Kyodo General Hospital, Miyamachi, Mito, Ibaraki, Japan

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Norio Takayashiki Department of Pathology, Tsukuba University Hospital Mito Clinical Education and Training Center, Mito Kyodo General Hospital, Miyamachi, Mito, Ibaraki, Japan

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Masanao Kurata Department of Gastrointestinal Surgery, Tsukuba University Hospital Mito Clinical Education and Training Center, Mito Kyodo General Hospital, Miyamachi, Mito, Ibaraki, Japan

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Hiroaki Yagyu Department of Endocrinology and Metabolism, Tsukuba University Hospital Mito Clinical Education and Training Center, Mito Kyodo General Hospital, Miyamachi, Mito, Ibaraki, Japan

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Summary

Unawareness of postprandial hypoglycemia for 5 years was identified in a 66-year-old man at a local clinic. The patient was referred to our hospital because of this first awareness of hypoglycemia (i.e. lightheadedness and impaired consciousness) developing after lunch. In a 75 g oral glucose tolerance test, the plasma glucose concentration was decreased to 32 mg/dL (1.8 mmol/L) at 150 min with relatively high concentrations of insulin (8.1 μU/mL), proinsulin (70.3 pmol/L), and C-peptide (4.63 ng/mL). In a prolonged fasting test, the plasma glucose concentration was decreased to 43 mg/dL (2.4 mmol/L) at 66 h with an insulin concentration of 1.4 μU/mL and a C-peptide concentration of 0.49 ng/mL. Computed tomography showed an 18 mm hyperenhancing tumor in the uncinate process of the pancreas. A selective arterial calcium stimulation test showed an elevated serum insulin concentration in the superior mesenteric artery. The patient was then diagnosed with insulinoma and received pancreaticoduodenectomy. Continuous glucose monitoring (CGM) using the Dexcom G6 system showed unawareness of hypoglycemia mainly during the daytime before surgery. When the sensor glucose value was reduced to 55 mg/dL (3.1 mmol/L), the Dexcom G6 system emitted an urgent low glucose alarm to the patient four times for 10 days. Two months after surgery, an overall increase in daily blood glucose concentrations and resolution of hypoglycemia were shown by CGM. We report a case of insulinoma with unawareness of postprandial hypoglycemia in the patient. The Dexcom G6 system was helpful for assessing preoperative hypoglycemia and for evaluating outcomes of treatment by surgery.

Learning points

  • Insulinoma occasionally leads to postprandial hypoglycemia.

  • The CGM system is useful for revealing the presence of unnoticed hypoglycemia and for evaluating treatment outcomes after surgical resection.

  • The Dexcom G6 system has an urgent low glucose alarm, making it particularly suitable for patients who are unaware of hypoglycemia.

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Katriona Fox Department of Paediatrics, Regional Hospital Mullingar, Co. Westmeath, Ireland

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Aisling Fitzsimons Department of Paediatrics, Regional Hospital Mullingar, Co. Westmeath, Ireland

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Farhana Sharif Department of Paediatrics, Regional Hospital Mullingar, Co. Westmeath, Ireland
Department of Paediatrics, Royal College of Surgeons in Ireland, Dublin, Ireland
School of Medicine, University College Dublin, Dublin, Ireland

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Graham Robert Lee School of Medicine, University College Dublin, Dublin, Ireland
Department of Clinical Biochemistry and Diagnostic Endocrinology, Mater Misericordiae University Hospital, Dublin, Ireland

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Michael Joseph O’Grady Department of Paediatrics, Regional Hospital Mullingar, Co. Westmeath, Ireland
School of Medicine, University College Dublin, Dublin, Ireland

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Summary

Rare patients who have both thyroid-stimulating hormone (TSH) receptor-stimulating and -blocking antibodies can develop ‘pendulum swinging’ thyroid dysfunction. A 9-year-old girl with Down syndrome was treated with carbimazole for Graves’ disease. After 2 years of treatment, she became profoundly biochemically hypothyroid, and this persisted after carbimazole was discontinued. Low-dose L-thyroxine was commenced. This was subsequently also discontinued as biochemical hyperthyroidism developed. TSH receptor antibody bioassay identified both TSH receptor-stimulating and -blocking antibodies. Mild hyperthyroidism persisted and while consultations regarding definitive treatment were ongoing, medication was not recommenced. Thyroid function normalised spontaneously and she has remained euthyroid for the past 3 years. Previous reports have advised definitive treatment; however, our patient developed spontaneous remission which has been prolonged and definitive therapies have been avoided. It is not yet known how commonly this particular phenomenon occurs.

Learning points

  • Rare patients who have both TSH receptor-stimulating and -blocking antibodies can switch between hyperthyroidism and hypothyroidism or vice versa during treatment with antithyroid drugs or thyroxine.

  • Metamorphic thyroid autoimmunity is more common in Down syndrome.

  • Switching between hyperthyroidism and hypothyroidism and back again is less commonly reported.

  • Definitive treatment such as radioactive iodine or thyroidectomy are usually recommended.

  • Prolonged remission was achieved off all medication, without recourse to definitive treatments.

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Sumeet Arora Department of Pediatrics, Division of Pediatric Endocrinology, Artemis Hospital, Gurgaon, Haryana, India

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Olga Yeliosof Division of Pediatric Endocrinology, Cohen Children’s Northwell Health, Staten Island, New York, USA

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Vivian L Chin Division of Pediatric Endocrinology, SUNY Downstate Health Sciences University, New York, USA

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Summary

Kallmann syndrome (KS) is a genetically heterogeneous condition characterized by hypogonadotropic hypogonadism with coexisting anosmia or hyposmia along with potential other phenotypic abnormalities depending on the specific genetic mutation involved. Several genetic mutations have been described to cause KS. The ANOS1 (KAL1) gene is responsible for 8% of mutations causing KS. A 17-year-old male presented to our clinic with delayed puberty and hyposmia, along with a family history suggestive of hypogonadism in his maternal uncle. Genetic testing for KS revealed complete exon 3 deletion in the ANOS1 gene. To the best of our knowledge, this specific mutation has not been previously described in the literature.

Learning points

  • Missense and frameshift mutations in the KAL1 or ANOS1 gene located in the X chromosome are responsible for 8% of all known genetic mutations of Kallmann syndrome.

  • Exon 3 deletion is one of the ANOS1 gene is a novel mutation, not reported before.

  • Targeted gene sequencing for hypogonadotropic hypogonadism can be employed based on the phenotypic presentation.

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Taieb Ach Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia
University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia

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Ben Yamna Hadami Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia
University of Tunis, Faculty of Medicine of Tunis, Tunis, Tunisia

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Nadia Ghariani Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia
University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia
Department of Dermatology, University Hospital of Farhat Hached Sousse, Tunisia

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Randa Said ElMabrouk Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia
University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia
Department of Dermatology, University Hospital of Farhat Hached Sousse, Tunisia

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Asma Ben Abdelkrim Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia
University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia

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Maha Kacem Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia
University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia

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Mohamed Denguezli Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia
University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia
Department of Dermatology, University Hospital of Farhat Hached Sousse, Tunisia

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Koussay Ach Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia
University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia

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Summary

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive inherited syndrome caused by mutations in autoimmune regulator (AIRE) gene. The three clinical components of this syndrome are mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. In addition to these frequent symptoms, many other components have been reported including gastrointestinal manifestations.We report a case of a 17-year-old Caucasian female patient diagnosed with APECED who presented with acute abdominal pain. Her medical history revealed chronic digestive discomfort without bowel movement disorders. The patient needed a significant increase in doses of calcium supplementation and hydrocortisone which appeared to be partially inefficient. Investigation with esophagogastroduodenoscopy and biopsy showed autoimmune atrophic gastritis. The patient eventually needed increasing doses of treatment received in order to achieve desired clinical and biological therapeutic goals.

Learning points

  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive inherited syndrome caused by mutations in the autoimmune regulator (AIRE) gene.

  • The three clinical components of this syndrome that appear in early childhood are mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency.

  • In addition to these frequent symptoms, many other components have been reported including gastrointestinal manifestations like atrophic gastritis. They can be caused by many abnormalities including atrophic gastritis and the modification of intestinal biofilm and microbiota.

  • Early diagnosis and treatment of gastrointestinal manifestations associated with APECED prevent multiple life-threatening consequences like acute adrenal crisis and severe symptomatic hypocalcemia.

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Mawson Wang Department of Endocrinology and Metabolism, Concord Hospital, Sydney, Australia

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Markus J Seibel Department of Endocrinology and Metabolism, Concord Hospital, Sydney, Australia
Concord Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, Australia

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Summary

We report the case of a 69-year-old female with systemic mastocytosis, diagnosed based on widespread pigmented papules and macules, elevated serum tryptase levels and confirmatory skin and bone marrow biopsy, on a background of osteoporosis. A CT demonstrated multiple sclerotic lesions within lumbar vertebral bodies, sacrum and ileum, with surrounding osteolysis but no obvious compression fractures. She was treated with the RANK-L inhibitor denosumab, resulting in significant bone mineral density gain over the following 5 years. However, her serum tryptase levels gradually increased during this period despite treatment with the multikinase inhibitor, midostaurin. It is thus conceivable that her rapid increase in bone mineral density may be partly contributed by a predominance of pro-osteoblastic mediators released by abnormal mast cells, suggestive of more advanced disease. This case highlights the complexities of systemic mastocytosis-related bone disease and the interplay of numerous mediators contributing to a phenotype of both increased bone resorption and formation.

Learning points

  • Systemic mastocytosis is a neoplastic disease of mast cells characterized by abnormal proliferation and accumulation in the skin and other organs. It is most frequently associated with the somatic gain-of-function KIT D816V mutation.

  • Systemic mastocytosis should be suspected in patients presenting with not only cutaneous symptoms suggestive of mast cell degranulation such as anaphylaxis, flushing or urticaria but also unexplained osteoporosis and gastrointestinal and constitutional symptoms.

  • The prevalence of osteoporosis in systemic mastocytosis is high. Mast cell activation leads to the secretion of numerous chemical mediators which either promote or inhibit osteoclastic and/or osteoblastic activity, with the balance usually in favour of increased bone resorption. However, in advanced diseases with high mast cell burden, mast-cell-derived cytokines and mediators may promote osteoblastic activity, leading to osteosclerosis and apparent increases in bone mineral density.

  • Treatment of osteoporosis in systemic mastocytosis involves antiresorptive therapy with bisphosphonates and more recently, denosumab. There are limited data on the role of osteoanabolic agents.

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David Fennell Department of Endocrinology, Mater Misericordiae University Hospital, Dublin, Ireland

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Clare Miller Department of Endocrinology, Mater Misericordiae University Hospital, Dublin, Ireland

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Stephen Ludgate Department of Endocrinology, Mater Misericordiae University Hospital, Dublin, Ireland

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John Conneely Department of Surgery, Mater Misericordiae University Hospital, Dublin, Ireland

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Serena O’Brien Department of Critical Care Medicine, Mater Misericordiae University Hospital, Dublin, Ireland

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Ian Conrick-Martin Department of Critical Care Medicine, Mater Misericordiae University Hospital, Dublin, Ireland

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Jennifer Hastings Department of Critical Care Medicine, Mater Misericordiae University Hospital, Dublin, Ireland

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Siobhán E McQuaid Department of Endocrinology, Mater Misericordiae University Hospital, Dublin, Ireland
School of Medicine, University College Dublin, Dublin, Ireland

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Summary

Phaeochromocytoma, a rare neuroendocrine tumour of chromaffin cell origin, is characterised by catecholamine excess. Clinical presentation ranges from asymptomatic disease to life-threatening multiorgan dysfunction. Catecholamine-induced cardiomyopathy is a dreaded complication with high lethality. While there is lack of evidence-based guidelines for use of veno-arterial extracorporeal membrane oxygenation (V-A ECMO) in the management of this condition, limited to case reports and small case series, V-A ECMO has been reported as ‘bridge to recovery’ therapy, providing circulatory support in the initial period of stabilisation prior to surgery. We report on two patients presenting with catecholamine-induced cardiomyopathy and circulatory collapse who were successfully treated with V-A ECMO for 5 and 6 days, respectively, providing initial haemodynamic support. After stabilisation and introduction of alpha-blockade, both cases had favourable outcomes, with successful laparoscopic adrenalectomies on days 62 and 83 of admission, respectively. Our case reports provide further support for the use of V-A ECMO in the treatment of such gravely ill patients.

Learning points

  • Phaeochromocytoma should be considered in the diagnosis of patients presenting with acute cardiomyopathy.

  • Management of catecholamine-induced cardiomyopathy is complex and requires multidisciplinary specialist input.

  • Pre-operative management of phaeochromocytoma involves alpha-blockade; however, haemodynamic instability in the setting of cardiogenic shock can preclude alpha-blockade use.

  • Veno-arterial extracorporeal membrane oxygenation is a life-saving intervention which may be considered in cases of acute catecholamine-induced cardiomyopathy and cardiogenic shock in order to provide the required haemodynamic support in the initial phase of treatment, enabling the administration of traditional pharmacological agents, including alpha-blockade.

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Clara Cunha Department of Endocrinology, Hospital Egas Moniz, Lisbon, Portugal

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Filipa Mousinho Department of Haematology, Hospital São Francisco Xavier, Lisbon, Portugal

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Catarina Saraiva Department of Endocrinology, Hospital Egas Moniz, Lisbon, Portugal

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João Sequeira Duarte Department of Endocrinology, Hospital Egas Moniz, Lisbon, Portugal

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Summary

Primary thyroid lymphoma (PTL) is a rare malignancy, accounting for less than 5% of all thyroid neoplasms. The follicular subtype is even more rare, accounting for approximately 10% of all PTL cases. We report a case of a 64-year-old woman, who presented with a rapidly growing goitre with mass effect and B symptoms. She had a history of Hashimoto’s thyroiditis and her thyroid ultrasound revealed diffuse goitre with a dominant nodule (56 × 63 × 60 mm) within the right thyroid lobe. Ultrasound-guided percutaneous fine-needle aspiration of the right thyroid nodule was classified as benign, according to Bethesda System, with lymphocytic thyroiditis. A CT scan of the neck showed diffuse enlargement of the thyroid gland extending towards the anterior mediastinum with tracheal deviation and lymphadenopathy within levels VII and right II–IV. The core needle biopsy of the right thyroid nodule revealed a follicular non-Hodgkin’s B cell lymphoma with a Ki67 of 60%. According to the Ann Arbor staging system, she was at stage IIIE. She underwent chemotherapy with R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone) with remarkable clinical improvement and is currently in remission 2 years after the diagnosis. PTL is an extremely rare malignancy that usually arises in a lymphocytic thyroiditis background, presenting as a rapidly enlarging goitre, which can lead to compressive symptoms or airway comprise.

Learning points

  • Primary thyroid lymphoma (PTL) is a rare malignancy, accounting for less than 5% of thyroid neoplasms.

  • PTL should be suspected when a patient presents with a rapidly enlarging goitre, especially in the setting of Hashimoto’s thyroiditis.

  • Fine-needle aspiration has a limited capacity for PTL diagnosis due to similar cytomorphological features of lymphoma with thyroiditis. Therefore, in case of clinical suspicion and if fine needle aspiration fails to diagnose PTL, a tissue biopsy should be performed.

  • Treatment is dependent on both the stage and histology of PTL. Chemotherapy and local radiotherapy remain the mainstay treatment for PTL.

Open access