Publications by authors named "Nicola Tufton"

18 Publications

  • Page 1 of 1

SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.

Clin Endocrinol (Oxf) 2021 Sep 24. Epub 2021 Sep 24.

Department of Clinical Genetics, Birmingham Women's Hospital, Birmingham, UK.

Objective: Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly heritable tumours. Variants in succinate dehydrogenase (SDH) subunits are identified in approximately 25% of cases. However, clinical and genetic information of patients with SDHC variants are underreported.

Design: This retrospective case series collated data from 18 UK Genetics and Endocrinology departments.

Patients: Both asymptomatic and disease-affected patients with confirmed SDHC germline variants are included.

Measurements: Clinical data including tumour type and location, surveillance outcomes and interventions, SDHC genetic variant assessment, interpretation, and tumour risk calculation.

Results: We report 91 SDHC cases, 46 probands and 45 non-probands. Fifty-one cases were disease-affected. Median age at genetic diagnosis was 43 years (range: 11-79). Twenty-four SDHC germline variants were identified including six novel variants. Head and neck paraganglioma (HNPGL, n = 30, 65.2%), extra-adrenal paraganglioma (EAPGL, n = 13, 28.2%) and phaeochromocytomas (PCC) (n = 3, 6.5%) were present. One case had multiple PPGLs. Malignant disease was reported in 19.6% (9/46). Eight cases had non-PPGL SDHC-associated tumours, six gastrointestinal stromal tumours (GIST) and two renal cell cancers (RCC). Cumulative tumour risk (95% CI) at age 60 years was 0.94 (CI: 0.79-0.99) in probands, and 0.16 (CI: 0-0.31) in non-probands, respectively.

Conclusions: This study describes the largest cohort of 91 SDHC patients worldwide. We confirm disease-affected SDHC variant cases develop isolated HNPGL disease in nearly 2/3 of patients, EAPGL and PCC in 1/3, with an increased risk of GIST and RCC. One fifth developed malignant disease, requiring comprehensive lifelong tumour screening and surveillance.
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http://dx.doi.org/10.1111/cen.14594DOI Listing
September 2021

International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.

Nat Rev Endocrinol 2021 07 21;17(7):435-444. Epub 2021 May 21.

INSERM, PARCC, Equipe Labellisée par la Ligue contre le Cancer, Paris, France.

Approximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrogenase (SDHx) genes (SDHA, SDHB, SDHC and SDHD), which encode the four subunits of the SDH enzyme. When a pathogenic SDHx mutation is identified in an affected patient, genetic counselling is proposed for first-degree relatives. Optimal initial evaluation and follow-up of people who are asymptomatic but might carry SDHx mutations have not yet been agreed. Thus, we established an international consensus algorithm of clinical, biochemical and imaging screening at diagnosis and during surveillance for both adults and children. An international panel of 29 experts from 12 countries was assembled, and the Delphi method was used to reach a consensus on 41 statements. This Consensus Statement covers a range of topics, including age of first genetic testing, appropriate biochemical and imaging tests for initial tumour screening and follow-up, screening for rare SDHx-related tumours and management of elderly people who have an SDHx mutation. This Consensus Statement focuses on the management of asymptomatic SDHx mutation carriers and provides clinicians with much-needed guidance. The standardization of practice will enable prospective studies in the near future.
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http://dx.doi.org/10.1038/s41574-021-00492-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8205850PMC
July 2021

First-positive surveillance screening in an asymptomatic SDHA germline mutation carrier

Endocrinol Diabetes Metab Case Rep 2019 May 30;2019(1). Epub 2019 May 30.

Department of Endocrinology, St. Bartholomew’s Hospital, Barts Health NHS Trust, London, UK

Summary: At least 40% of phaeochromocytomas and paraganglioma’s (PPGLs) are associated with an underlying genetic mutation. The understanding of the genetic landscape of these tumours has rapidly evolved, with 18 associated genes now identified. Among these, mutations in the subunits of succinate dehydrogenase complex (SDH) are the most common, causing around half of familial PPGL cases. Occurrence of PPGLs in carriers of SDHB, SDHC and SDHD subunit mutations has been long reported, but it is only recently that variants in the SDHA subunit have been linked to PPGL formation. Previously documented cases have, to our knowledge, only been found in isolated cases where pathogenic SDHA variants were identified retrospectively. We report the case of an asymptomatic suspected carotid body tumour found during surveillance screening in a 72-year-old female who is a known carrier of a germline SDHA pathogenic variant. To our knowledge, this is the first screen that detected PPGL found in a previously identified SDHA pathogenic variant carrier, during surveillance imaging. This finding supports the use of cascade genetic testing and surveillance screening in all carriers of a pathogenic SDHA variant.

Learning Points: SDH mutations are important causes of PPGL disease. SDHA is much rarer compared to SDHB and SDHD mutations. Pathogenicity and penetrance are yet to be fully determined in cases of SDHA-related PPGL. Surveillance screening should be used for SDHA PPGL cases to identify recurrence, metastasis or metachronous disease. Surveillance screening for SDH-related disease should be performed in identified carriers of a pathogenic SDHA variant.
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http://dx.doi.org/10.1530/EDM-19-0005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6548220PMC
May 2019

Hypertension due to a deoxycorticosterone-secreting adrenal tumour diagnosed during pregnancy.

Endocrinol Diabetes Metab Case Rep 2019 May 3;2019. Epub 2019 May 3.

Department of Endocrinology, St. Bartholomew's Hospital, West Smithfield, London, UK.

Mineralocorticoid hypertension is most often caused by autonomous overproduction of aldosterone, but excess of other mineralocorticoid precursors can lead to a similar presentation. 11-Deoxycorticosterone (DOC) excess, which can occur in 11-β hydroxylase or 17-α hydroxylase deficiencies, in DOC-producing adrenocortical tumours or in patients taking 11-β hydroxylase inhibitors, may cause mineralocorticoid hypertension. We report a 35-year-old woman who in the third trimester of pregnancy was found to have a large adrenal mass on routine obstetric ultrasound. On referral to our unit, persistent hypertension and long-standing hypokalaemia was noted, despite good compliance with multiple antihypertensives. Ten years earlier, she had hypertension noted in pregnancy which had persisted after delivery. A MRI scan confirmed the presence of a 12 cm adrenal mass and biochemistry revealed high levels of DOC and low/normal renin, aldosterone and dehydroepiandrosterone, with normal catecholamine levels. The patient was treated with antihypertensives until obstetric delivery, following which she underwent an adrenalectomy. Histology confirmed a large adrenal cortical neoplasm of uncertain malignant potential. Postoperatively, blood pressure and serum potassium normalised, and the antihypertensive medication was stopped. Over 10 years of follow-up, she remains asymptomatic with normal DOC measurements. This case should alert clinicians to the possibility of a diagnosis of a DOC-producing adrenal tumours in patients with adrenal nodules and apparent mineralocorticoid hypertension in the presence of low or normal levels of aldosterone. The associated diagnostic and management challenges are discussed. Learning points: Hypermineralocorticoidism is characterised by hypertension, volume expansion and hypokalaemic alkalosis and is most commonly due to overproduction of aldosterone. However, excess of other mineralocorticoid products, such as DOC, lead to the same syndrome but with normal or low aldosterone levels. The differential diagnosis of resistant hypertension with low renin and low/normal aldosterone includes congenital adrenal hyperplasia, syndrome of apparent mineralocorticoid excess, Cushing's syndrome, Liddle's syndrome and 11-deoxycorticosterone-producing tumours. DOC is one intermediate product in the mineralocorticoid synthesis with weaker activity than aldosterone. However, marked DOC excess seen in 11-β hydroxylase or 17-α hydroxylase deficiencies in DOC-producing adrenocortical tumours or in patients taking 11-β hydroxylase inhibitors, may cause mineralocorticoid hypertension. Excessive production of DOC in adrenocortical tumours has been attributed to reduced activity of the enzymes 11-β hydroxylase and 17-α hydroxylase and increased activity of 21-α hydroxylase. The diagnosis of DOC-producing adrenal tumours is challenging because of its rarity and poor availability of DOC laboratory assays.
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http://dx.doi.org/10.1530/EDM-18-0164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499913PMC
May 2019

Diffusion-weighted imaging (DWI) highlights SDHB-related tumours: A pilot study.

Clin Endocrinol (Oxf) 2019 07 11;91(1):104-109. Epub 2019 Apr 11.

Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.

Objective: There is consensus that asymptomatic carriers of SDHB mutations should undergo periodic surveillance imaging. MRI has the advantage of avoiding radiation exposure but its sensitivity and specificity for detecting phaeochromocytoma and paraganglioma (PPGL) are dependent on sequences performed and expertise of reporting radiologists. We aim to highlight the additional value of diffusion-weighted imaging (DWI) for MR based surveillance, demonstrating DWI's ability to identify small PPGLs at all body sites.

Design: We presented DWI sequences taken as part of SDHB surveillance to a radiologist, expert in reporting PPGL screening scans. Areas of high signal on DWI were interrogated using other standard MRI sequences.

Patients: We reviewed the MRI scans for 18 SDHB mutation carriers with a total of 18 histologically proven SDHB-related tumours and 12 presumed PGLs/metastatic deposits.

Results: The DWI sequences identified all 30 lesions. False-positive lesions were excluded by standard sequences. The tumours detected by DWI ranged in size from 5 to 52 mm. PPGLs were identified on DWI in the abdomen (n = 14), adrenal gland (n = 1), thorax (n = 3), neck (n = 2) and bladder (n = 2). Additionally, other SDHB-related tumours (GIST, RCC) were also highlighted by DWI, as were metastatic deposits in the liver and bone.

Conclusions: These preliminary data suggest that DWI has high sensitivity and can identify even small SDHB-related tumours. If these findings are confirmed in larger series, for all SDH subunits, it will provide reassurance about identifying small SDH-related tumours, without exposing patients to the consequences of radiation-based imaging and will secure the role of MRI for surveillance imaging.
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http://dx.doi.org/10.1111/cen.13980DOI Listing
July 2019

An analysis of surveillance screening for SDHB-related disease in childhood and adolescence.

Endocr Connect 2019 Mar;8(3):162-172

Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

Objective Phaeochromocytomas (PCC) and paragangliomas (PGL) are rare in children. A large proportion of these are now understood to be due to underlying germline mutations. Here we focus on succinate dehydrogenase subunit B (SDHB) gene mutation carriers as these tumours carry a high risk of malignant transformation. There remains no current consensus with respect to optimal surveillance for asymptomatic carriers and those in whom the presenting tumour has been resected. Method We undertook a retrospective analysis of longitudinal clinical data of all children and adolescents with SDHB mutations followed up in a single UK tertiary referral centre. This included index cases that pre-dated the introduction of surveillance screening and asymptomatic carriers identified through cascade genetic testing. We also conducted a literature review to inform a suggested surveillance protocol for children and adolescents harbouring SDHB mutations. Results Clinical outcomes of a total of 38 children are presented: 8 index cases and 30 mutation-positive asymptomatic carriers with 175 patient years of follow-up data. Three of the eight index cases developed metachronous disease and two developed metastatic disease. Of the 30 asymptomatic carriers, 3 were found to have PGLs on surveillance screening. Conclusions Surveillance screening was well tolerated in our paediatric cohort and asymptomatic paediatric subjects. Screening can identify tumours before they become secretory and/or symptomatic, thereby facilitating surgical resection and reducing the chance of distant spread. We propose a regular screening protocol commencing at age 5 years in this at-risk cohort of patients.
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http://dx.doi.org/10.1530/EC-18-0522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391899PMC
March 2019

Can subunit-specific phenotypes guide surveillance imaging decisions in asymptomatic SDH mutation carriers?

Clin Endocrinol (Oxf) 2019 01 28;90(1):31-46. Epub 2018 Nov 28.

Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.

Objective: With the discovery that familial phaeochromocytoma and paraganglioma syndrome can be caused by mutations in each subunit of the succinate dehydrogenase enzyme (SDH), has come the recognition that mutations in the individual subunits have their own distinct natural histories. Increased genetic screening is leading to the identification of increasing numbers of, mostly asymptomatic, gene mutation carriers and the implementation of screening strategies for these individuals. Yet there is, to date, no international consensus regarding screening strategies for asymptomatic carriers.

Design: A comprehensive PubMed search from 1/1/2000 to 28/2/2018 was undertaken using multiple search terms and subsequently a manual review of references in identified papers to identify all clinically relevant cases and cohorts. In this review, the accumulated, published experience of phenotype and malignancy risks of individual SDH subunits is analysed. Where possible screening results for asymptomatic SDH mutation carriers have been analysed separately to define the penetrance in asymptomatic carriers (asymptomatic penetrance).

Results: The combined data confirms that "asymptomatic penetrance" is highest for SDHD and when there is penetrance, the most likely site to develop a PGL is head and neck (SDHD) and extra-adrenal abdominal (SDHB). However, the risk in SDHB carriers of developing HNPGL is also high (35.5%) and a PCC is low (15.1%), and in SDHD carriers there is a high risk of developing a PCC (35.8%) or abdominal PGL (9.4%) and a small, but significant risk at other sympathetic sites. The data suggest that the risk of malignant transformation is the same for both PCC and extra-adrenal abdominal PGLs (30%-35%) in SDHB carriers. In SDHD carriers, the risk of malignant transformation was highest in HNPGLs (7.5%) and similar for sympathetic sites (3.8%-5.2%).

Conclusions: Using this data, we suggest surveillance screening of asymptomatic carriers can be tailored to the underlying SDH subunit and review possible surveillance programmes.
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http://dx.doi.org/10.1111/cen.13877DOI Listing
January 2019

A patient with a germline mutation presenting with an isolated pituitary macroprolactinoma.

Endocrinol Diabetes Metab Case Rep 2018 21;2018. Epub 2018 Jul 21.

Endocrinology, Imperial College Healthcare NHS Trust, London, UK.

Symptomatic pituitary adenomas occur with a prevalence of approximately 0.1% in the general population. It is estimated that 5% of pituitary adenomas occur in a familial setting, either in isolated or syndromic form. Recently, loss-of-function mutations in genes encoding succinate dehydrogenase subunits () or MYC-associated factor X ( have been found to predispose to pituitary adenomas in co-existence with paragangliomas or phaeochromocytomas. It is rare, however, for a familial mutation to manifest as an isolated pituitary adenoma. We present the case of a pituitary lactotroph adenoma in a patient with a heterozygous germline mutation, in the absence of concomitant neoplasms. Initially, the adenoma showed biochemical response but poor tumour shrinkage in response to cabergoline; therefore, transsphenoidal surgery was performed. Following initial clinical improvement, tumour recurrence was identified 15 months later. Interestingly, re-initiation of cabergoline proved successful and the lesion demonstrated both biochemical response and tumour shrinkage. Our patient's mutation was identified when we realised that her father had a metastatic paraganglioma, prompting genetic testing. Re-inspection of the histopathological report of the prolactinoma confirmed cells with vacuolated cytoplasm. This histological feature is suggestive of an mutation and should prompt further screening for mutations by immunohistochemistry and/or genetic testing. Surprisingly, immunohistochemistry of this pituitary adenoma demonstrated normal expression, despite loss of expression in the patient's father's paraganglioma.

Learning Points: Pituitary adenomas may be the presenting and/or sole feature of mutation-related disease. mutated pituitary adenomas may display clinically aggressive behaviour and demonstrate variable response to medical treatment.Histological evidence of intracytoplasmic vacuoles in a pituitary adenoma might suggest an SDH-deficient tumour and should prompt further screening for mutations.Immunohistochemistry may not always predict the presence of mutations.
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http://dx.doi.org/10.1530/EDM-18-0078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063986PMC
July 2018

Radiological Surveillance Screening in Asymptomatic Succinate Dehydrogenase Mutation Carriers.

J Endocr Soc 2017 Jul 6;1(7):897-907. Epub 2017 Jun 6.

Department of Endocrinology, St. Bartholomew's Hospital, Barts Health National Health Service Trust, West Smithfield, London EC1A 7BE, United Kingdom.

There has been a significant increase in the availability of testing for pheochromocytoma and paraganglioma (PPGL) germline susceptibility genes. As more patients with genetic mutations are identified, cascade genetic testing of family members is also increasing. This results in identifying genetic predispositions at a much earlier age. With our current understanding of familial PPGL syndromes, lifelong surveillance is required. This review focuses on carriers of succinate dehydrogenase () mutations. For genetic testing to be proven worthwhile, the results must be used for patient benefit. For mutations, this should equate to a surveillance program that is safe and removes as much uncertainty around diagnosis as possible. Early identification of these tumors is the goal of any surveillance program, as surgical resection is the mainstay of treatment with curative intent to prevent the morbidity and mortality consequences associated with catecholamine excess, in addition to the risk of malignancy. Modality and frequency of surveillance imaging and how to engage individuals in the process of surveillance remain controversial questions. The data reviewed here and the cumulative advice supports the avoidance of using radiation-exposing imaging in this group of individuals that require lifelong screening.
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http://dx.doi.org/10.1210/js.2017-00230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686572PMC
July 2017

Excluding the pheochromocytoma.

Int J Cardiol 2017 12;249:326-327

St Bartholomew's Hospital, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2017.08.061DOI Listing
December 2017

mutated paragangliomas may be at high risk of metastasis.

Endocr Relat Cancer 2017 07 12;24(7):L43-L49. Epub 2017 May 12.

Department of EndocrinologySt Bartholomew's Hospital, Barts Health NHS Trust, West Smithfield, London, UK

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http://dx.doi.org/10.1530/ERC-17-0030DOI Listing
July 2017

Pituitary Carcinoma in a Patient with an SDHB Mutation.

Endocr Pathol 2017 Dec;28(4):320-325

Centre of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.

We present the first case of pituitary carcinoma occurring in a patient with a succinate dehydrogenase subunit B (SDHB) mutation and history of paraganglioma. She was initially treated for a glomus tumour with external beam radiotherapy. Twenty-five years later, she was diagnosed with a non-functioning pituitary adenoma, having developed bitemporal hemianopia. Recurrence of the pituitary lesion (Ki-67 10% and p53 overexpressed) occurred 5 years after her transsphenoidal surgery, for which she underwent two further operations followed by radiotherapy. Histology showed large cells with vacuolated clear cytoplasm with positive immunostaining for steroidogenic factor 1 (SF1) and negative staining for pituitary hormones. Four years after the pituitary radiotherapy, two metastatic deposits were identified: a foramen magnum lesion and an intradural extra-medullary cervical lesion at the level of C3/C4. There was also significant growth of the primary pituitary lesion with associated visual deterioration. A biopsy of the foramen magnum lesion, demonstrating cells with vacuolated, clear cytoplasm and positive SF1 staining confirmed a pituitary carcinoma, for which she was commenced on temozolomide chemotherapy. There was dramatic clinical improvement after three cycles and reduction in the size of the lesions was observed following six cycles of temozolomide, and further shrinkage after 10 cycles. The plan is for a total of 12 cycles of temozolomide chemotherapy. SDH mutation-related pituitary tumours have an aggressive phenotype which, in this case, led to metastatic disease. SF1 immunostaining was helpful to identify the tissue origin of the metastatic deposit and to confirm the pituitary carcinoma.
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http://dx.doi.org/10.1007/s12022-017-9474-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5694522PMC
December 2017

Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers.

Clin Endocrinol (Oxf) 2017 Feb 24;86(2):286-296. Epub 2016 Oct 24.

Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.

Objective: For 'asymptomatic carriers' of the succinate dehydrogenase subunit B (SDHB) gene mutations, there is currently no consensus as to the appropriate modality or frequency of surveillance imaging. We present the results of a surveillance programme of SDHB mutation carriers.

Design: Review of clinical outcomes of a surveillance regimen in patients identified to have an SDHB gene mutation, based on annual MRI, in a single UK tertiary referral centre.

Patients: A total of 92 patients were identified with an SDHB gene mutation. a total of 27 index patients presented with symptoms, and 65 patients were identified as asymptomatic carriers.

Measurements: Annual MRI of the abdomen, with alternate year MRI of the neck, thorax and pelvis. Presence of an SDHB-related tumour included paraganglioma (PGL), phaeochromocytoma (PCC), renal cell carcinoma (RCC) and gastrointestinal stromal tumour (GIST).

Results: A total of 43 PGLs, eight PCCs and one RCC occurred in the 27 index patients (23 solitary, four synchronous, five metachronous). A further 15 SDHB-related tumours (11 PGLs, three RCCs, one GIST) were identified in the asymptomatic carriers on surveillance screening (25% of screened carriers): 10 on the first surveillance imaging and five on subsequent imaging 2-6 years later. A total of 11 patients had malignant disease.

Conclusions: SDHB-related tumours are picked up as early as 2 years after initial negative surveillance scan. We believe the high malignancy rate and early identification rate of tumours justifies the use of 1-2 yearly imaging protocols and MRI-based imaging could form the mainstay of surveillance in this patient group thereby minimizing radiation exposure.
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http://dx.doi.org/10.1111/cen.13246DOI Listing
February 2017

Alpha blockade-not to be underdone.

Clin Endocrinol (Oxf) 2017 02 21;86(2):306-308. Epub 2016 Nov 21.

Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, West Smithfield, London.

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http://dx.doi.org/10.1111/cen.13262DOI Listing
February 2017

A case of thyroid storm complicated by acute hepatitis due to propylthiouracil treatment.

Endocrinol Diabetes Metab Case Rep 2015 16;2015:150052. Epub 2015 Jul 16.

Bartshealth NHS Trust, St Bartholomew's Hospital , West Smithfield, London, EC1A 7BE , UK.

Unlabelled: A 57-year-old female presented 17 days after treatment with radioactive iodine (RAI) for difficult-to-control hyperthyroidism. She was febrile, had a sinus tachycardia, and was clinically thyrotoxic. Her thyroid function tests showed a suppressed TSH <0.02 mU/l, with free thyroxine (FT4) >75 pmol/l and total triiodothyronine (TT3) 6.0 nmol/l. She was diagnosed with thyroid storm and was managed with i.v. fluids, propylthiouracil (PTU) 200 mg four times a day, prednisolone 30 mg once daily and propanolol 10 mg three times a day. She gradually improved over 2 weeks and was discharged home on PTU with β blockade. On clinic review 10 days later, it was noted that, although she was starting to feel better, she had grossly abnormal liver function (alanine transaminase (ALT) 852 U/l, bilirubin 46 μmol/l, alkaline phosphatase (ALP) 303 U/l, international normalized ratio (INR) 0.9, platelets 195×10(9)/l). She was still mildly thyrotoxic (TSH <0.02 mU/l, FT4 31 pmol/l, TT3 1.3 nmol/l). She was diagnosed with acute hepatitis secondary to treatment with PTU. Ultrasound showed mild hepatic steatosis. PTU was stopped and she was managed with fluids and prednisolone 60 mg once daily and continued β blockade. Her liver function gradually improved over 10 days (bilirubin 9 μmol/l, ALT 164 U/l, ALP 195 U/l, INR 0.9, platelets 323×10(9)/l) with conservative management and had normalised by clinic review 3 weeks later. This case highlights the potentially fatal, but rare, complications associated with both RAI and PTU, namely, thyroid storm and acute hepatitis respectively.

Learning Points: Thyroid storm is an important, albeit rare, endocrinological emergency.Thyroid storm following RAI treatment is extremely rare.Management is with i.v. fluids, β blockade, anti-thyroid drugs and steroids.High dose glucocorticoid steroids can block the peripheral conversion of T4 to active T3.Liver dysfunction, acute hepatitis and potential hepatic failure are significant adverse drug reactions known to occur with PTU treatment. Supervising clinicians should be vigilant for evidence of this developing and intervene accordingly.Clinicians need to be aware of possible interactions between regular paracetamol use and PTU in predisposing to liver impairment.
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http://dx.doi.org/10.1530/EDM-15-0052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535297PMC
August 2015

Prevalence of Diabetes on Santa Cruz Island in Galapagos Archipelago.

Prev Chronic Dis 2015 Jun 18;12:E94. Epub 2015 Jun 18.

Royal London Hospital, BartsHealth NHS Trust, London, United Kingdom.

This was an observational study offering a screening program for diabetes in a health clinic in Puerto Ayora town on Santa Cruz Island to determine the prevalence of this disorder and identify those at risk. A 1-month screening program was undertaken. Of 141 patients screened, 85% of men and 83% of women were overweight or obese; 16 (11%) had suspected undiagnosed diabetes and 22 (16%) were at high risk of developing diabetes. This is the first reported study of glucose intolerance prevalence in Galapagos. Urgent education and prevention programs are required to address this public health problem.
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http://dx.doi.org/10.5888/pcd12.150108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4473601PMC
June 2015

Fever, ulcers and joint pain: an incidental finding of oesophageal dysmotility.

BMJ Case Rep 2013 Aug 29;2013. Epub 2013 Aug 29.

Acute Medicine Unit, Barts & The Royal London, London, UK.

A 41-year-old Bangladeshi man presented with a 2-month history of bilateral feet/hand swelling which intermittently resolved without medication. All blood tests performed by the general practitioner (GP) were unremarkable. Following admission to the accident and emergency department, a chest X-ray revealed a 'vail-like' opacification in the right side. High-resolution CT confirmed dilation of oesophagus with food debris and circumferential thickening of the lower oesophageal sphincter.
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http://dx.doi.org/10.1136/bcr-2013-200047DOI Listing
August 2013

Prevalence of hypertensive disorders in a prenatal clinic in Zanzibar.

Int J Gynaecol Obstet 2011 Jan 16;112(1):69-70. Epub 2010 Nov 16.

Whittington Hospital, Highgate Hill, London, UK.

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http://dx.doi.org/10.1016/j.ijgo.2010.09.005DOI Listing
January 2011
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