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Open access

Michael Dick and Michael Croxson

syndrome . Canadian Journal of Gastroenterology 1999 13 767 – 770 . ( https://doi.org/10.1155/1999/810264 ) 7 Zelissen PM Bast EJ Croughs RJ . Associated autoimmunity in Addison’s disease . Journal of Autoimmunity 1995 8 121 – 130

Open access

Rajiv Singh and Cynthia Mohandas

hospital with outpatient cardiology follow up. She was later referred to the Gastroenterology team by her General Practitioner for worsening dyspepsia, abdominal pain and a 7 kg weight loss over the past 1 month. She reported reduced oral intake due to

Open access

Navira Samad and Ian Fraser

Kang SH Baeg MK Oh HJ 2014 Case of inappropriate ADH syndrome: hyponatremia due to polyethylene glycol bowel preparation . World Journal of Gastroenterology 20 12350 – 12354 . ( doi:10.3748/wjg.v20.i34.12350 ) 6 Hasan AG Brown

Open access

Bernardo Marques, Raquel G Martins, Guilherme Tralhão, Joana Couto, Sandra Saraiva, Henrique Ferrão, João Ribeiro, Jacinta Santos, Teresa Martins, Ana Teresa Cadime, and Fernando Rodrigues

.1530/EJE-12-0418 ) 3 Li T-T Qian Z-R Wan J Qi X-K Wu B-Y. Classification, clinicopathologic features and treatment of gastric neuroendocrine tumors . World Journal of Gastroenterology 2014 20 118 – 125 . ( https://doi.org/10.3748/wjg

Open access

Andrea Pucci, Wui Hang Cheung, Jenny Jones, Sean Manning, Helen Kingett, Marco Adamo, Mohamed Elkalaawy, Andrew Jenkinson, Nicholas Finer, Jacqueline Doyle, Majid Hashemi, and Rachel L Batterham

standardization, acclimatization, and sample processing affect gut hormone levels and appetite in humans . Gastroenterology 136 2115 – 2126 . ( doi:10.1053/j.gastro.2009.02.047 ) Lee WJ Pok EH Almulaifi A Tsou JJ

Open access

Adriana de Sousa Lages, Isabel Paiva, Patrícia Oliveira, Francisco Portela, and Francisco Carrilho

Ito S Ogawa Y Kobayashi M Hanazaki K 2013 Diagnosis and management of insulinoma . World Journal of Gastroenterology 19 829 – 837 . ( doi:10.3748/wjg.v19.i6.829 ) 3 Davi MV Pia A Guarnotta V Pizza G Colao A

Open access

Carolina Chaves, Mariana Chaves, João Anselmo, and Rui César

Summary

Berardinelli–Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disease, characterized by the absence of subcutaneous adipose tissue, leptin deficiency and severe metabolic complications, such as insulin resistance, diabetes mellitus, and dyslipidemia. The most common mutation occurs in BCSL2 which encodes seipin, a protein involved in adipogenesis. We report a patient with BSCL who was diagnosed with diabetes at 11 years old. He was started on metformin 1000 mg twice daily, which lowered glycated hemoglobin (HbA1c) to less than 7%. Four months later, HbA1c raised above 7.5%, indicating secondary failure to metformin. Therefore, we added the peroxisome proliferator-activated receptor-gamma (PPARG) agonist, pioglitazone. Since then and for the last 5 years his HbA1c has been within the normal range. These findings indicate that pioglitazone should be considered as a valid alternative in the treatment of diabetes in BSCL patients. To the best of our knowledge, this is the first specific report of successful long-term treatment with pioglitazone in a patient with BSCL.

Learning points

  • Berardinelli–Seip congenital lipodystrophy (BSCL) is a recessive genetic disorder associated with severe insulin resistance and early onset diabetes, usually around puberty. Failure of oral antidiabetic medication occurs within the first years of treatment in BSCL patients.

  • When failure to achieve metabolic control with metformin occurs, pioglitazone may be a safe option, lowering insulin resistance and improving both the metabolic control and lipodystrophic phenotype.

  • Herein we show that pioglitazone can be a safe and efficient alternative in the long-term treatment of BSCL patients with diabetes.

Open access

David Joseph Tansey, Jim John Egan, Michelle Murray, Katie Padfield, John Conneely, and Mensud Hatunic

Summary

Phaeochromocytoma is a rare catecholamine-producing tumour. We present the case of phaeochromocytoma in a young man with a background history of a double-lung transplant for cystic fibrosis (CF). Clinical case: A 25-year-old man, with a background history of CF, CF-related diabetes (CFRD) and a double-lung transplant in 2012 was presented to the emergency department with crampy abdominal pain, nausea and vomiting. He was diagnosed with distal intestinal obstructions syndrome (DIOS). Contrast-enhanced CT imaging of the abdomen and pelvis showed a 3.4 cm right adrenal lesion. This was confirmed by a subsequent MRI of adrenal glands that demonstrated moderate FDG uptake, suggestive of a diagnosis of phaeochromocytoma. The patient was noted to be hypertensive with a blood pressure averaging 170/90 mm/Hg despite treatment with three different anti-hypertensive medications – amlodipine, telmisartan and doxazosin. He had hypertension for the last 3 years and had noted increasingly frequent sweating episodes recently, without palpitations or headache. Laboratory analysis showed elevated plasma normetanephrines (NMN) of 3167 pmol/L (182–867) as well as elevated metanephrines (MN) of 793 pmol/L (61–377) and a high 3-MT of 257 pmol/L (<185). Once cathecholamine excess was identified biochemically, we proceeded to functional imaging to further investigate. MIBG scan showed a mild increase in the uptake of tracer to the right adrenal gland compared to the left. The case was discussed at a multidisciplinary (MDT) meeting at which the diagnosis of phaeochromocytoma was made. Following a challenging period of 4 weeks to control the patient’s blood pressure with an alpha-blocker and beta-blocker, the patient had an elective right adrenalectomy, with normalisation of his blood pressure post-surgery. The histopathology of the excised adrenal gland was consistent with a 3 cm phaeochromocytoma with no adverse features associated with malignant potential.

Learning points

  • Five to ten per cent of patients have a secondary cause for hypertension. Phaeochromocytomas are rare tumours, originating in chromaffin cells and they represent 0.1–1.0% of all secondary hypertension cases.

  • Secondary causes should be investigated in cases where:

  • Patient is presenting <20 years of age or >50 years of age,

  • There is refractory hypertension, or

  • There is serious end-organ damage present.

  • Patients may present with the triad of headache, sweating and palpitations or more vague, non-specific symptoms.

  • Patients with suspected phaeochromocytoma should have 24-h urinary catecholamines measured and if available, plasma metanephrines measured. Those with abnormal biochemical tests should be further investigated with imaging to locate the tumour.

  • Medical treatment involves alpha- and beta-blockade for at least 2 to 3 weeks before surgery as well as rehydration.

  • There is a possibility of relapse so high-risk patients require life-long follow-up.

Open access

P A D M Kumarathunga, N S Kalupahana, and C N Antonypillai

Summary

Whey protein is a popular dietary supplement that is claimed to provide multiple health benefits. It has been shown to delay gastric emptying and impair ileal nutrient absorption. Additionally, some of the other additives like papain enzyme, soy lecithin in these protein supplements could interfere with L-thyroxine absorption. There is no evidence in the literature for the effects of protein supplements on L-thyroxine absorption. Herein, we describe a case of a 34-year-old lady who was on endocrinology follow up for primary hypothyroidism with stable thyroid-stimulating hormone (TSH) levels within the normal range while on L-thyroxine with a dose of 125 µg daily for the last 3 years, presenting with mild hypothyroid symptoms and elevated TSH level following a recent introduction of a protein supplement by her physical care adviser. Her treatment adherence and ingestion technique were good throughout, she was not on other medications or herbal remedies, there were no other changes in her food pattern or features suggestive of malabsorption, she was not pregnant, was taking the same L-thyroxine brand and TSH test was done from the routine lab. Since the only factor which could have contributed to the deranged TSH levels was the recent introduction of the whey protein supplement, we advised her to stop the protein supplement while continuing the same dose of L-thyroxine. Her TSH level was repeated in 6 weeks and was found to be normal (1.7 mIU/L). Our case report demonstrates that over-the-counter protein supplements could interfere with L-thyroxine absorption. Therefore, patients on L-thyroxine should be cautious when taking them.

Learning points

  • Over-the-counter protein supplements could interfere with oral L-thyroxine absorption.

  • The underlying mechanism could be the effect of whey protein by delaying gastric emptying and reduced responsiveness of organic anion transporters in the ileum, and there may be a contribution from other additives like papain and soy lecithin present in these supplements.

  • When there is an elevation of previously stable thyroid-stimulating hormone (TSH) value in a hypothyroid patient on oral L-thyroxine, the patient's assessment should include inquiring for a recent introduction of protein supplement, in the absence of other well-known risk factors.

  • Discontinuation of protein supplement results in normalization of thyroid function tests.

  • Patients on oral L-thyroxine should be cautious when taking over-the-counter protein supplementation.

Open access

Nina Dauth, Victoria T Mücke, Marcus M Mücke, Christian M Lange, Martin Welker, Stefan Zeuzem, and Klaus Badenhoop

Summary

Wilson’s disease (WD) is a rare disorder of copper metabolism usually presenting with variable liver damage and neuropsychiatric symptoms. Here we report a 39-year-old Taiwanese female with late manifestation of WD presenting with gonadotroph, thyreotroph and corticotroph hypopituitarism. Molecular genetic testing revealed compound heterozygosity for two mutations in exons 12 and 14 (c.2828G>A and c.3140A>T). Copper-chelating therapy with D-penicillamine and zinc was initiated along with supplementation of hydrocortisone and L-thyroxine. Hypopituitarism resolved when urinary copper excretion returned to normal levels under copper chelation. This case should raise awareness of pituitary function in WD patients.

Learning points

  • Hypopituitarism can complicate Wilson’s disease (WD) and endocrinologists should be aware of it when caring for hypopituitary patients.

  • Hepatologists should consider endocrinologic testing for hypopituitarism when WD patients present with symptoms of adrenal insufficiency, thyroid or gonadal dysfunction.

  • Copper-chelating treatment is mandatory and may lead to the recovery of pituitary function in such patients.