Case Report: Persistent Acromegaly – Effective Therapy with Lanreotide and Weekly Pegvisomant Injections

Objective Therapeutic options for persistent acromegaly after surgery include another surgical approach, radiotherapy, medical therapy or a combination of these procedures. We describe a patient with persistent acromegaly despite heavy pre-treatment who was in need of a simplified mode of effective therapy. Methods In a 45-year old patient after transsphenoidal pituitary surgery followed by linear accelerator irradiation of the residual tumor two years later acromegaly could not be controlled by a tolerable dosage of intramuscular octreotide LAR. For professional reasons the patient requested a simplified mode of treatment. Results In order to improve efficacy and treatment convenience, we combined subcutaneous injections of lanreotide up to 120 mg monthly performed by the patient’s spouse and of pegvisomant 80 mg weekly conducted by the patient himself. This therapy was well tolerated and satisfactory endocrine control was achieved. Magnetic resonance imaging did not show any remaining tumor within a year. 5 years following surgery and 3 years following irradiation pegvisomant could be stopped and levels of insulin growth factor 1 and growth hormone remained in the normal range. The interval of lanreotide given subcutaneously by the patient’s spouse could be extended stepwise and somatostatin analog treatment was terminated after 7.5 years when the patient was cured. Conclusions Excessive growth hormone secretion persisting after pituitary surgery and irradiation can be controlled in a convenient way for the patient with acromegaly by combining monthly lanreotide and weekly pegvisomant injections, if monotherapy with a somatostatin analog fails.

Lymphocytic Adrenal Medullitis: Case Report of A Patient with Pheochromocytoma-Like Hypertensive Paroxysms

Lymphocytic adrenal medullitis (LAM) denote the histological finding of lymphocytic infiltrates in the adrenal medulla, a rare phenomenon that previously has been deemed asymptomatic and linked to autopsy findings in patients with type I diabetes. We describe the finding of LAM in a 66-year old female presenting with hyperaldosteronism and a 17 mm lesion in the right adrenal gland. The patient displayed secondary hypertension as well as intermittently occurring exaggerated hypertensive episodes with systolic peaks above 220 mm Hg. Preoperative catecholamine screening was negative, diminishing the possibility of a pheochromocytoma. Unilateral adrenalectomy was performed, and histology revealed an aldosterone producing adrenocortical adenoma. No signs of adrenomedullary hyperplasia or pheochromocytoma were found; however, prominent B- and T-lymphocytic infiltrates were observed across the medulla. The inflammation was almost absent in the surrounding adrenocortical tissue. Postoperatively, the patient remained hypertensive, but without paroxysmal excessive blood pressure elevations. A review of our pathology records between the years 2000 to present time as well as focused histopathological re-examination of 40 cases revealed no signs of LAM in any adrenal gland investigated, confirming the occurrence in living patients as exceedingly rare. This is the first report of LAM in a living patient, with a possible clinical association to intermittent episodes of markedly increased blood pressure not commonly seen in patients with hyperaldosteronism. A coupling between LAM and exaggerated hypertensive episodes cannot be ruled out.

Worsening Cardiac Function in a Patient with Friedreich’s Ataxia Secondary to Profound Hypothyroidism

We present a case of declining cardiac function in a patient with Friedreich's Ataxia, however, her worsening cardiac function was not related to her chronic disease. Her declining cardiac function was associated with hypothyroidism that was initially overlooked. The purpose of this article is to remind physicians of the role that thyroid hormone has in cardiac function and overall health. Autoimmune hypothyroidism is a common condition, and physicians should consider screening thyroid function in any patient with poor or worsening cardiac function.

Alstrom Syndrome with Novel ALMS1 Mutations: A Case Report

Objective To report novel mutations of ALMS1 and evaluate clinical characteristics in the Chinese Child with Alstrom syndrome (ALMS). Methods The Child and his parents were examined clinically and venous blood was collected. ALMSl gene analysis was carried out using DNA Sanger sequencing. Using polymerase chain reaction (PCR) amplified ALMS1 gene exons and splice sequence. The objective products were directly sequenced and analyzed. Pathogenic gene mutations were identified by contrast with the transcript (GRCh37/hg19). Results The Child had typical clinical features of Alstrom syndrome. Sequencing the ALMS1 gene confirmed 2 novel heterozygous non-sense mutations in exon8, c.4600C>T (p.Q1534X) and in exon16, c.11410C>T (p.R3804X), respectively, resulting in premature protein truncation. Conclusions 2 novel heterozygous non-sense mutations were identified in the Chinese Child with Alstrom syndrome, expanding the ALMS1 gene mutations causing Alstrom syndrome.

Prevalence of Eating Disorders in Individuals with Type 2 Diabetes: A Cohort Comparison of Patients and Controls

To determine the prevalence of eating disorders (ED) in a cohort of patients with type 2 diabetes (T2DM), to identify the more predominant forms of ED, and to clarify if ED is associated with impaired metabolic control. A cohort of 517 patients with T2DM aged≥40 years and a control cohort of 304 patients without diabetes, age and gender matched, were enrolled from 3 primary care centres. All subjects completed the Questionnaire of Eating and Weight Patterns-Revised (QEWP-R), followed by a structured interview (EDE 17th version). The overall prevalence of ED in patients with T2DM and control cohorts was 32.5% and 19.7%, respectively (p<0.001). The frequency of ED in the patients with T2DM cohort was significantly higher in male than in female: 61.9% vs. 38.1% of the ED, respectively (p<0.001). The most prevalent form was unspecified feeding or eating disorder, mainly uncontrolled picking at food in 24.6% of subjects, which is significantly more prevalent in the patients with T2DM cohort than in controls, 24.6% vs. 14.5% (p<0.001). Mean HbA1c was 7.15%±1.1% (55 mmol/mol, 159 mg/dL) and 6.84%±1.1% (51 mmol/mol,150 mg/dL) in patients with T2DM with ED and without ED, respectively (p=0.047). ED have a high prevalence in patients with T2DM, and the coexistence of type 2 diabetes and ED significantly affects metabolic control in these patients.

Frequency of Genital Infections According to Body Mass Index in Dapagliflozin-treated Patients with Type 2 Diabetes Mellitus

Genital infections are associated with sodium glucose co-transporter 2 inhibitors such as dapagliflozin. Since patients with Type 2 diabetes are at increased risk of genital infections, and obesity is a risk factor for infections, obese patients with Type 2 diabetes could be more susceptible to genital infections when treated with sodium glucose co-transporter 2 inhibitors. This pooled dataset assessed the frequency of genital infections according to baseline body mass index in patients treated with dapagliflozin 10 mg. Data were pooled from 13 studies of up to 24 weeks’ duration (dapagliflozin N=2 360; placebo N=2 295). Frequency of genital infections was compared between three body mass index subgroups (<30, ≥30−< 35 and ≥35 kg/m2). Genital infections were reported in 130 (5.5%) patients receiving dapagliflozin and 14 (0.6%) patients receiving placebo; none of which were serious. Genital infections were more common in women (84/130 [64.6%]) than in men (46/130 [35.4%]) treated with dapagliflozin. In the body mass index < 30, ≥ 30−< 35 and ≥ 35 kg/m2 dapagliflozin-treated subgroups, 38/882 (4.3%), 47/796 (5.9%) and 45/682 (6.6%) patients presented with genital infections, respectively. Although the frequency was low overall and relatively similar between subgroups, there was a trend towards an increase in genital infections in patients with a higher body mass index. This trend is unlikely to be clinically relevant or to affect suitability of dapagliflozin as a treatment option for obese patients with Type 2 diabetes, but rather should influence advice and counselling of overweight patients on prevention and treatment of genital infections.

Statin Intolerance in a Patient with Gilberts Syndrome and Hypercholesterolemia

Background: Statin intolerance especially myalgias can be a serious problem. Whilst it is well know that drugs that compete for Cytochrome 450 system can result in myalgias there is sparse data on the role of glucuronidation of statins contributing to statin intolerance We report on a 60 year old male with Hypercholesterolemia (HC) who was referred for management of his HC since he had statin intolerance manifesting as myalgias and was shown to have Gilbert’s Syndrome. Case Report: Investigation of this patient revealed he had Familial Combined Hyperlipidemia with a LDL-cholesterol of 189 mg/dl. He was also diagnosed with Gilbert’s Syndrome since he had elevated unconjugated bilirubin with no evidence of liver disease or hemolysis. The combination of Niacin, Cholestyramine and ezetimibe resulted in a successful decrease in his LDL-cholesterol to 114 mg/dl. Discussion: We believe that his Gilberts Syndrome resulted in an impairment in glucuronidation of statin drugs resulting in an increase in free drug levels and myalgias. We caution that clinicians should consider this possibility when confronted with a patient with both isolated elevations of unconjugated bilirubin and increase LDL-cholesterol levels before commencing statin therapy.

What makes Lymphadenopathy in Patients with Autoimmune Thyroiditis Suspicious for Malignancy?

Lymphadenopathy in Robbins level II-IV and VI is common in autoimmune thyroiditis but the diagnostic strategy of a distinct lymphadenopathy exceeding the known features in autoimmune thyroiditis patients is unknown. The aim of this study was to determine how the extent of cervical lymphadenopathy in autoimmune thyroiditis affects the diagnostic management.The study comprises one index-patient with autoimmune thyroiditis and distinct suspicious lymphadenopathy in all cervical levels as well as retroclavicular. In addition 10 patients with autoimmune thyroiditis and distinct suspicious lymphadenopathy limited to level VI were evaluated.Findings of high resolution ultrasound, fine-needle aspiration cytology, serological testing and clonal analysis are reported here. Further diagnostics of the index-patient included histology, immunohistochemistry, bcl-2-expression analysis and PET/CT.The index-patient showed distinct lymphadenopathy in level I-VI and retroclavicular. Lymph nodes did not display any sonographic malignancy criteria. Molecular analysis and immunohistochemistry revealed monoclonal CD10- and CD20-positive, Bcl-2 expressing follicular B-cells confirming the diagnosis of a follicular B-cell Non-Hodgkin lymphoma.10 additional patients with limited lymphadenopathy showed typical features of autoimmune thyroiditis and lymph nodes did not display sonographic malignancy criteria in all cases. Further tests excluded lymph node malignancies.Extensive diagnostics in autoimmune thyroiditis and distinct cervical lymphadenopathy is crucial. Whereas limited lymphadenopathy in AIT was proven benign, extensive lymphadenopathy exceeding the known amount and/or spreading to retroclavicular/mediastinal compartments is suspicious for malignancy. Even in the absence of sonographic malignancy criteria further tests have to be performed.