Diagnosis and Treatment > Medication

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J K Witczak Section of Endocrinology, Department of Medicine, Prince Phillip Hospital
Centre for Endocrine and Diabetes Sciences, University Hospital of Wales, Heath Park, Cardiff, UK

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N Ubaysekara Centre for Endocrine and Diabetes Sciences, University Hospital of Wales, Heath Park, Cardiff, UK

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R Ravindran Centre for Endocrine and Diabetes Sciences, University Hospital of Wales, Heath Park, Cardiff, UK

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S Rice Section of Endocrinology, Department of Medicine, Prince Phillip Hospital

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Z Yousef Department of Cardiology, University Hospital of Wales, Heath Park, Cardiff, UK

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L D Premawardhana Centre for Endocrine and Diabetes Sciences, University Hospital of Wales, Heath Park, Cardiff, UK

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Summary

Graves’ disease is associated with tachydysrythmia, cardiac ischaemia and cardiomyopathy – all uncommon in young adults without previous cardiac disease. We present three young individuals who developed cardiac complications after periods of uncontrolled Graves’ disease. Subject 1: A 34-year-old female had severe thyrotoxic symptoms for weeks. Investigations showed fT4: 98.4 (11–25 pmol/L), fT3: 46.9 (3.1–6.8 pmol/L), TSH <0.01 (0.27–4.2 mU/L) and thyrotrophin receptor antibody (TRAb): 34.8 (<0.9 U//l). She had appropriate treatment but several weeks later she became breathless despite improving thyroid function. Echocardiography showed a pericardial effusion of 2.9 cm. She responded well to steroids and NSAIDs but developed active severe Graves’ orbitopathy after early total thyroidectomy. Subject 2: A 28-year-old male developed thyrotoxic symptoms (fT4: 38 pmol/L, fT3: 13.9 pmol/L, TSH <0.01 (for over 6 months) and TRAb: 9.3 U/L). One month after starting carbimazole, he developed acute heart failure (HF) due to severe dilated cardiomyopathy – EF 10–15%. He partially recovered after treatment – EF 28% and had early radioiodine treatment. Subject 3: A 42-year-old woman who had been thyrotoxic for several months (fT4: 54.3; fT3 >46.1; TSH <0.01; TRAb: 4.5) developed atrial fibrillation (AF) and heart failure. Echocardiography showed cardiomegaly – EF 29%. She maintains sinus rhythm following early total thyroidectomy (EF 50%). Significant cardiac complications may occur in previously fit young adults, who have had uncontrolled Graves’ disease for weeks to months. Cardiac function recovers in the majority, but early definitive treatment should be discussed to avoid Graves’ disease relapse and further cardiac decompensation.

Learning points:

  • Cardiac complications of Graves’ disease are uncommon in young adults without previous cardiac disease.

  • These complications may however occur if Graves’ disease had been poorly controlled for several weeks or months prior to presentation.

  • Persistent symptoms after adequate control should alert clinicians to the possibility of cardiac disease.

  • Specific treatment of Graves’ disease and appropriate cardiac intervention results in complete recovery in the majority and carries a good prognosis.

  • Early definitive treatment should be offered to them to prevent cardiac decompensation at times of further relapse.

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Noor Rafhati Adyani Abdullah Endocrinology Unit, Department of Medicine, Putrajaya Hospital, Putrajaya, Malaysia

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Wong Lok Chin Jason Department of Medicine, National University of Malaysia Medical Centre, Kuala Lumpur, Malaysia

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Azraai Bahari Nasruddin Endocrinology Unit, Department of Medicine, Putrajaya Hospital, Putrajaya, Malaysia

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Summary

Pachydermoperiostosis is a very rare osteoarthrodermopathic disorder whose clinical and radiographic presentations may mimic those of acromegaly. In the evaluation of patients with acromegaloid appearances, pachydermoperiostosis should be considered as a differential diagnosis. In this article, we report a 17-year-old boy who presented with 2-year history of acral enlargement and facial appearance changes associated with joint pain and excessive sweating. He had been investigated extensively for acromegaly, and the final diagnosis was pachydermoperiostosis.

Learning points

  • There is a broad range of differential diagnosis for acromegaloid features such as acromegaly, pseudoacromegaly with severe insulin resistance, Marfan’s syndrome, McCune–Albright and a rare condition called pachydermoperiostosis.

  • Once a patient is suspected to have acromegaly, the first step is biochemical testing to confirm the clinical diagnosis, followed by radiologic testing to determine the cause of the excess growth hormone (GH) secretion. The cause is a somatotroph adenoma of the pituitary in over 95 percent of cases.

  • The first step is measurement of a serum insulin-like growth factor 1 (IGF1). A normal serum IGF1 concentration is strong evidence that the patient does not have acromegaly.

  • If the serum IGF1 concentration is high (or equivocal), serum GH should be measured after oral glucose administration. Inadequate suppression of GH after a glucose load confirms the diagnosis of acromegaly.

  • Once the presence of excess GH secretion is confirmed, the next step is pituitary magnetic resonance imaging (MRI).

  • Atypical presentation warrants revision of the diagnosis. This patient presented with clubbing with no gigantism, which is expected in adolescent acromegalics as the growth spurt and epiphyseal plate closure have not taken place yet.

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Mahmud Abo Salook Endocrine Institute

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Carlos Benbassat Endocrine Institute
Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

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Yulia Strenov Pathology Laboratory, Rabin Medical Center, Beilinson Campus, Petah Tiqva 49100, Israel

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Amit Tirosh Endocrine Institute
Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

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Summary

A 55-year-old male, with a positive medical history for hypothyroidism, treated with stable doses for years was admitted with subacute thyroiditis and a feeling of pain and pressure in the neck. Laboratory tests showed decrease in TSH levels, elevated erythrocyte sedimentation rate, and very high antithyroid antibodies. Owing to enlarging goiter and exacerbation in the patient's complaints, he was operated with excision of a fibrotic and enlarged thyroid lobe. Elevated IgG4 plasma levels and high IgG4/IgG plasma cell ratio on immunohistochemistry led to the diagnosis of IgG4-mediated thyroiditis. We concluded that IgG4-thyroiditis and IgG4-related disease should be considered in all patients with an aggressive form of Hashimoto's thyroiditis.

Learning points

  • IgG4-related disease is a systemic disease that includes several syndromes; IgG4-related thyroiditis is one among them.

  • IgG4-thyroiditis should be considered in all patients with an aggressive form of Hashimoto's thyroiditis.

  • Patients with suspected IgG4-thyroiditis should have blood tested for IgG4/IgG ratio and appropriate immunohistochemical staining if possible.

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