Diagnosis and Treatment > Medication > Statins
You are looking at 1 - 9 of 9 items
The University of Sydney, Faculty of Medicine and Health, Sydney, New South Wales, Australia
Search for other papers by Albert S Kim in
Google Scholar
PubMed
Search for other papers by Rashida Hakeem in
Google Scholar
PubMed
Search for other papers by Azaliya Abdullah in
Google Scholar
PubMed
Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Western Australia, Australia
Search for other papers by Amanda J Hooper in
Google Scholar
PubMed
Department of Genetic Medicine, Westmead Hospital, Westmead, New South Wales, Australia
Search for other papers by Michel C Tchan in
Google Scholar
PubMed
Department of Maternal-Fetal Medicine, Westmead Institute for Maternal-Fetal Medicine, Westmead Hospital, Westmead, New South Wales, Australia
Search for other papers by Thushari I Alahakoon in
Google Scholar
PubMed
The University of Sydney, Faculty of Medicine and Health, Sydney, New South Wales, Australia
Department of Diabetes and Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia
Search for other papers by Christian M Girgis in
Google Scholar
PubMed
Summary
A 19-year-old female presented at 25-weeks gestation with pancreatitis. She was found to have significant hypertriglyceridaemia in context of an unconfirmed history of familial hypertriglyceridaemia. This was initially managed with fasting and insulin infusion and she was commenced on conventional interventions to lower triglycerides, including a fat-restricted diet, heparin, marine oil and gemfibrozil. Despite these measures, the triglyceride levels continued to increase as she progressed through the pregnancy, and it was postulated that she had an underlying lipoprotein lipase defect. Therefore, a multidisciplinary decision was made to commence therapeutic plasma exchange to prevent further episodes of pancreatitis. She underwent a total of 13 sessions of plasma exchange, and labour was induced at 37-weeks gestation in which a healthy female infant was delivered. There was a rapid and significant reduction in triglycerides in the 48 h post-delivery. Subsequent genetic testing of hypertriglyceridaemia genes revealed a missense mutation of the LPL gene. Fenofibrate and rosuvastatin was commenced to manage her hypertriglyceridaemia postpartum and the importance of preconception counselling for future pregnancies was discussed. Hormonal changes in pregnancy lead to an overall increase in plasma lipids to ensure adequate nutrient delivery to the fetus. These physiological changes become problematic, where a genetic abnormality in lipid metabolism exists and severe complications such as pancreatitis can arise. Available therapies for gestational hypertriglyceridaemia rely on augmentation of LPL activity. Where there is an underlying LPL defect, these therapies are ineffective and removal of triglyceride-rich lipoproteins via plasma exchange should be considered.
Learning points:
-
Hormonal changes in pregnancy, mediated by progesterone,oestrogen and human placental lactogen, lead to a two- to three-fold increase in serum triglyceride levels.
-
Pharmacological intervention for management of gestational hypertriglyceridaemia rely on the augmentation of lipoprotein lipase (LPL) activity to enhance catabolism of triglyceride-rich lipoproteins.
-
Genetic mutations affecting the LPL gene can lead to severe hypertriglyceridaemia.
-
Therapeutic plasma exchange (TPE) is an effective intervention for the management of severe gestational hypertriglyceridaemia and should be considered in cases where there is an underlying LPL defect.
-
Preconception counselling and discussion regarding contraception is of paramount importance in women with familial hypertriglyceridaemia.
Search for other papers by Impana Shetty in
Google Scholar
PubMed
Search for other papers by Sarah Fuller in
Google Scholar
PubMed
Search for other papers by Margarita Raygada in
Google Scholar
PubMed
Search for other papers by Maria J Merino in
Google Scholar
PubMed
Search for other papers by B J Thomas in
Google Scholar
PubMed
Search for other papers by Brigitte C Widemann in
Google Scholar
PubMed
Search for other papers by Karlyne M Reilly in
Google Scholar
PubMed
Search for other papers by Karel Pacak in
Google Scholar
PubMed
Search for other papers by Jaydira Del Rivero in
Google Scholar
PubMed
Summary
Adrenocortical carcinoma (ACC) is an aggressive cancer that originates in the cortex of the adrenal gland and generally has a poor prognosis. ACC is rare but can be more commonly seen in those with cancer predisposition syndromes (e.g. Li-Fraumeni and Lynch Syndrome). The diagnosis of ACC is sometimes uncertain and it requires the use of precise molecular pathology; the differential diagnosis includes pheochromocytoma, adrenal adenoma, renal carcinoma, or hepatocellular carcinoma. We describe a case of a 57-year-old woman with Lynch Syndrome and metastatic ACC who was initially diagnosed as having pheochromocytoma. The tumor was first identified at 51 years of age by ultrasound followed by a CT scan. She underwent a left adrenalectomy, and the histopathology identified pheochromocytoma. Two years later, she had tumor recurrence with imaging studies showing multiple lung nodules. Following a wedge resection by video-assisted thoracoscopic surgery (VATS), histopathology was read as metastatic pheochromocytoma at one institution and metastatic ACC at another institution. She later presented to the National Institutes of Health (NIH) where the diagnosis of ACC was confirmed. Following her ACC diagnosis, she was treated with mitotane and pembrolizumab which were stopped due to side effects and progression of disease. She is currently receiving etoposide, doxorubicin, and cisplatin (EDP). This case highlights the importance of using a multi-disciplinary approach in patient care. Thorough evaluation of the tumor’s pathology and analysis of the patient’s genetic profile are necessary to obtain the correct diagnosis for the patient and can significantly influence the course of treatment.
Learning points:
-
Making the diagnosis of ACC can be difficult as the differential diagnosis includes pheochromocytoma, adrenal adenoma, renal carcinoma, or hepatocellular carcinoma.
-
Patients with Lynch Syndrome should undergo surveillance for ACC as there is evidence of an association between Lynch Syndrome and ACC.
-
Conducting a complete tumor immunoprofile and obtaining a second opinion is very important in cases of suspected ACC in order to confirm the proper diagnosis.
-
A multi-disciplinary approach including genetic testing and a thorough evaluation of the tumor’s pathology is imperative to ensuring that the patient receives an accurate diagnosis and the appropriate treatment.
Search for other papers by Hui Yi Ng in
Google Scholar
PubMed
Search for other papers by Divya Namboodiri in
Google Scholar
PubMed
Search for other papers by Diana Learoyd in
Google Scholar
PubMed
Search for other papers by Andrew Davidson in
Google Scholar
PubMed
Search for other papers by Bernard Champion in
Google Scholar
PubMed
Search for other papers by Veronica Preda in
Google Scholar
PubMed
Summary
Co-secreting thyrotropin/growth hormone (GH) pituitary adenomas are rare; their clinical presentation and long-term management are challenging. There is also a paucity of long-term data. Due to the cell of origin, these can behave as aggressive tumours. We report a case of a pituitary plurihormonal pit-1-derived macroadenoma, with overt clinical hyperthyroidism and minimal GH excess symptoms. The diagnosis was confirmed by pathology showing elevated thyroid and GH axes with failure of physiological GH suppression, elevated pituitary glycoprotein hormone alpha subunit (αGSU) and macroadenoma on imaging. Pre-operatively the patient was rendered euthyroid with carbimazole and underwent successful transphenoidal adenomectomy (TSA) with surgical cure. Histopathology displayed an elevated Ki-67 of 5.2%, necessitating long-term follow-up.
Learning points:
-
Thyrotropinomas are rare and likely under-diagnosed due to under-recognition of secondary hyperthyroidism.
-
Thyrotropinomas and other plurihormonal pit-1-derived adenomas are more aggressive adenomas according to WHO guidelines.
-
Co-secretion occurs in 30% of thyrotropinomas, requiring diligent investigation and long-term follow-up of complications.
Search for other papers by Catherine Alguire in
Google Scholar
PubMed
Search for other papers by Jessica Chbat in
Google Scholar
PubMed
Search for other papers by Isabelle Forest in
Google Scholar
PubMed
Search for other papers by Ariane Godbout in
Google Scholar
PubMed
Search for other papers by Isabelle Bourdeau in
Google Scholar
PubMed
Summary
Pheochromocytoma is a rare tumor of the adrenal gland. It often presents with the classic triad of headache, palpitations and generalized sweating. Although not described as a typical symptom of pheochromocytoma, anxiety is the fourth most common symptom reported by patients suffering of pheochromocytoma. We report the case of a 64 year old man who had severe anxiety and panic disorder as presenting symptoms of pheochromocytoma. After 13 years of psychiatric follow-up, the patient was diagnosed with malignant pheochromocytoma. After surgical resection of his pheochromocytoma and his hepatic metastases, the major panic attacks completely disappeared, the anxiety symptoms improved significantly and the psychiatric medications were stopped except for a very low maintenance dose of venlafaxine. We found in our cohort of 160 patients with pheochromocytoma 2 others cases of apparently benign tumors with severe anxiety that resolved after pheochromocytoma resection. These cases highlight that pheochromocytoma should be included in the differential diagnosis of refractory anxiety disorder.
Learning points:
-
Anxiety and panic disorder may be the main presenting symptoms of pheochromocytoma.
-
The diagnosis of pheochromocytoma should be excluded in cases of long-term panic disorder refractory to medications since the anxiety may be secondary to a catecholamine-secreting tumor.
-
Surgical treatment of pheochromocytoma leads to significant improvement of anxiety disorders.
Lebanese University, Hadath, Lebanon
Search for other papers by Carine Ghassan Richa in
Google Scholar
PubMed
Lebanese University, Hadath, Lebanon
Search for other papers by Khadija Jamal Saad in
Google Scholar
PubMed
Mount Lebanon Hospital, Beirut, Lebanon
Search for other papers by Georges Habib Halabi in
Google Scholar
PubMed
Mount Lebanon Hospital, Beirut, Lebanon
Search for other papers by Elie Mekhael Gharios in
Google Scholar
PubMed
Search for other papers by Fadi Louis Nasr in
Google Scholar
PubMed
Mount Lebanon Hospital, Beirut, Lebanon
Search for other papers by Marie Tanios Merheb in
Google Scholar
PubMed
Summary
The objective of this study is to report three cases of paraneoplastic or ectopic Cushing syndrome, which is a rare phenomenon of the adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome. Three cases are reported in respect of clinical presentation, diagnosis and treatment in addition to relevant literature review. The results showed that ectopic ACTH secretion can be associated with different types of neoplasm most common of which are bronchial carcinoid tumors, which are slow-growing, well-differentiated neoplasms with a favorable prognosis and small-cell lung cancer, which are poorly differentiated tumors with a poor outcome. The latter is present in two out of three cases and in the remaining one, primary tumor could not be localized, representing a small fraction of patients with paraneoplastic Cushing. Diagnosis is established in the setting of high clinical suspicion by documenting an elevated cortisol level, ACTH and doing dexamethasone suppression test. Treatment options include management of the primary tumor by surgery and chemotherapy and treating Cushing syndrome. Prognosis is poor in SCLC. We concluded that in front of a high clinical suspicion, ectopic Cushing syndrome diagnosis should be considered, and identification of the primary tumor is essential.
Learning points:
-
Learning how to suspect ectopic Cushing syndrome and confirm it among all the causes of excess cortisol.
-
Distinguish between occult and severe ectopic Cushing syndrome and etiology.
-
Providing the adequate treatment of the primary tumor as well as for the cortisol excess.
-
Prognosis depends on the differentiation and type of the primary malignancy.
Search for other papers by Ahmad Haider in
Google Scholar
PubMed
Search for other papers by Karim S Haider in
Google Scholar
PubMed
Research Department, Gulf Medical University, Ajman, UAE
Search for other papers by Farid Saad in
Google Scholar
PubMed
Summary
In daily practice, clinicians are often confronted with obese type 2 diabetes mellitus (T2DM) patients for whom the treatment plan fails and who show an inadequate glycemic control and/or no sustainable weight loss. Untreated hypogonadism can be the reason for such treatment failure. This case describes the profound impact testosterone therapy can have on a male hypogonadal patient with metabolic syndrome, resulting in a substantial and sustained loss of body weight, pronounced improvement of all critical laboratory values and finally complete remission of diabetes.
Learning points:
-
Hypogonadism occurs frequently in men with T2DM.
-
In case of pronounced abdominal fat deposition and T2DM, the male patient should be evaluated for testosterone deficiency.
-
Untreated hypogonadism can complicate the successful treatment of patients with T2DM.
-
Under testosterone therapy, critical laboratory values are facilitated to return back to normal ranges and even complete remission of diabetes can be achieved.
Search for other papers by Nikolaos Kyriakakis in
Google Scholar
PubMed
Search for other papers by Jacqueline Trouillas in
Google Scholar
PubMed
Search for other papers by Mary N Dang in
Google Scholar
PubMed
Search for other papers by Julie Lynch in
Google Scholar
PubMed
Search for other papers by Paul Belchetz in
Google Scholar
PubMed
Search for other papers by Márta Korbonits in
Google Scholar
PubMed
Search for other papers by Robert D Murray in
Google Scholar
PubMed
Summary
A male patient presented at the age of 30 with classic clinical features of acromegaly and was found to have elevated growth hormone levels, not suppressing during an oral glucose tolerance test. His acromegaly was originally considered to be of pituitary origin, based on a CT scan, which was interpreted as showing a pituitary macroadenoma. Despite two trans-sphenoidal surgeries, cranial radiotherapy and periods of treatment with bromocriptine and octreotide, his acromegaly remained active clinically and biochemically. A lung mass was discovered incidentally on a chest X-ray performed as part of a routine pre-assessment for spinal surgery 5 years following the initial presentation. This was confirmed to be a bronchial carcinoid tumour, which was strongly positive for growth hormone-releasing hormone (GHRH) and somatostatin receptor type 2 by immunohistochemistry. The re-examination of the pituitary specimens asserted the diagnosis of pituitary GH hyperplasia. Complete resolution of the patient’s acromegaly was achieved following right lower and middle lobectomy. Seventeen years following the successful resection of the bronchial carcinoid tumour the patient remains under annual endocrine follow-up for monitoring of the hypopituitarism he developed after the original interventions to his pituitary gland, while there has been no evidence of active acromegaly or recurrence of the carcinoid tumour. Ectopic acromegaly is extremely rare, accounting for <1% of all cases of acromegaly. Our case highlights the diagnostic challenges differentiating between ectopic acromegaly and acromegaly of pituitary origin and emphasises the importance of avoiding unnecessary pituitary surgery and radiotherapy. The role of laboratory investigations, imaging and histology as diagnostic tools is discussed.
Learning points:
-
Ectopic acromegaly is rare, accounting for less than 1% of all cases of acromegaly.
-
Ectopic acromegaly is almost always due to extra-pituitary GHRH secretion, mainly from neuroendocrine tumours of pancreatic or bronchial origin.
-
Differentiating between acromegaly of pituitary origin and ectopic acromegaly can cause diagnostic challenges due to similarities in clinical presentation and biochemistry.
-
Serum GHRH can be a useful diagnostic tool to diagnose ectopic acromegaly.
-
Pituitary imaging is crucial to differentiate between a pituitary adenoma and pituitary hyperplasia, which is a common finding in ectopic acromegaly.
-
Diagnosing ectopic acromegaly is pivotal to avoid unnecessary interventions to the pituitary and preserve normal pituitary function.
Search for other papers by Varalaxmi Bhavani Nannaka in
Google Scholar
PubMed
Search for other papers by Dmitry Lvovsky in
Google Scholar
PubMed
Summary
Angina pectoris in pregnancy is unusual and Prinzmetal’s angina is much rarer. It accounts for 2% of all cases of angina. It is caused by vasospasm, but the mechanism of spasm is unknown but has been linked with hyperthyroidism in some studies. Patients with thyrotoxicosis-induced acute myocardial infarction are unusual and almost all reported cases have been associated with Graves’ disease. Human chorionic gonadotropin hormone-induced hyperthyroidism occurs in about 1.4% of pregnant women, mostly when hCG levels are above 70–80 000 IU/L. Gestational transient thyrotoxicosis is transient and generally resolves spontaneously in the latter half of pregnancy, and specific antithyroid treatment is not required. Treatment with calcium channel blockers or nitrates reduces spasm in most of these patients. Overall, the prognosis for hyperthyroidism-associated coronary vasospasm is good. We describe a very rare case of an acute myocardial infarction in a 27-year-old female, at 9 weeks of gestation due to right coronary artery spasm secondary to gestational hyperthyroidism with free thyroxine of 7.7 ng/dL and TSH <0.07 IU/L.
Learning points:
-
AMI and cardiac arrest due to GTT despite optimal medical therapy is extremely rare.
-
Gestational hyperthyroidism should be considered in pregnant patients presenting with ACS-like symptoms especially in the setting of hyperemesis gravidarum.
-
Our case highlights the need for increased awareness of general medical community that GTT can lead to significant cardiac events. Novel methods of controlling GTT as well as medical interventions like ICD need further study.
Search for other papers by Angelo Paci in
Google Scholar
PubMed
Nuclear Medicine and Endocrine Oncology Department, Gustave Roussy, Villejuif, France
Search for other papers by Ségolène Hescot in
Google Scholar
PubMed
Search for other papers by Atmane Seck in
Google Scholar
PubMed
Search for other papers by Christel Jublanc in
Google Scholar
PubMed
Search for other papers by Lionel Mercier in
Google Scholar
PubMed
Search for other papers by Delphine Vezzosi in
Google Scholar
PubMed
Search for other papers by Delphine Drui in
Google Scholar
PubMed
Search for other papers by Marcus Quinkler in
Google Scholar
PubMed
Search for other papers by Martin Fassnacht in
Google Scholar
PubMed
Search for other papers by Eric Bruckert in
Google Scholar
PubMed
Search for other papers by Marc Lombès in
Google Scholar
PubMed
Search for other papers by Sophie Leboulleux in
Google Scholar
PubMed
Search for other papers by Sophie Broutin in
Google Scholar
PubMed
Nuclear Medicine and Endocrine Oncology Department, Gustave Roussy, Villejuif, France
Search for other papers by Eric Baudin in
Google Scholar
PubMed
Summary
Mitotane (o,p′-DDD) is the standard treatment for advanced adrenocortical carcinoma (ACC). Monitoring of plasma mitotane levels is recommended to look for a therapeutic window between 14 and 20mg/L, but its positive predictive value requires optimization. We report the case of an ACC patient with a history of dyslipidemia treated with mitotane in whom several plasma mitotane levels >30mg/L were found together with an excellent neurological tolerance. This observation led us to compare theoretical or measured o,p′-DDD and o,p′-DDE levels in a series of normolipidemic and dyslipidemic plasma samples to explore potential analytical issues responsible for an overestimation of plasma mitotane levels. We demonstrate an overestimation of mitotane measurements in dyslipidemic patients. Mitotane and o,p′-DDE measurements showed a mean 20% overestimation in hypercholesterolemic and hypertriglyceridemic plasma, compared with normolipidemic plasma. The internal standard p,p′-DDE measurements showed a parallel decrease in hypercholesterolemic and hypertriglyceridemic plasma, suggesting a matrix effect. Finally, diluting plasma samples and/or using phospholipid removal cartridges allowed correcting such interference.
Learning points
-
Hypercholesterolemia (HCH) and hypertriglyceridemia (HTG) induce an overestimation of plasma mitotane measurements.
-
We propose a routine monitoring of lipidemic status.
-
We propose optimized methodology of measurement before interpreting high plasma mitotane levels.
