Zafer Pekkolay

A nation-wide survey of patients with homozygous familial hypercholesterolemia phenotype undergoing LDL-apheresis in Turkey (A-HIT 1 registry)

BACKGROUND AND AIMS Homozygous familial hypercholesterolemia (HoFH) is a genetic condition characterized by lethally high levels of low-density lipoprotein cholesterol (LDL-C) from birth, and requires rapid and aggressive intervention to prevent death due to coronary heart disease and/or atherosclerosis. Where available, lipoprotein apheresis (LA) is the mainstay of treatment to promote survival. METHODS A-HIT1 registry was conducted with the aim of providing insight to the real-life management of HoFH patients undergoing LA in Turkey, where LA procedures are fully reimbursed and widely available. Participating centers provided patient information, including family history, treatment patterns and relevant laboratory values, via a standard questionnaire. RESULTS The study evaluated 88 patients (mean age: 27 ± 11 years, 41 women) in 19 centers. All patients were receiving regular LA with a clinical diagnosis of HoFH. Mean age at first symptom disease was 10 ± 10 years, and at diagnosis it was 12 ± 11 years; 74.7% were diagnosed before age 15 years; and only 31% before the age of 7. First referral of most patients was to pediatricians. Early onset coronary artery disease was present in 57.8% of patients. Mean age at first LA was 21 ± 12 years. Only 11 (12.5%) patients were undergoing LA weekly. Mean frequency of apheresis sessions was 19 ± 13 days. For the last four LA sessions, LDL-C levels reached the target in only in 5.7% of patients. CONCLUSIONS Diagnosis of HoFH is delayed, and LDL targets are not reached. LA frequencies are not optimal. Urgent attention is needed to support the survival of patients with HoFH.

Gestational Severe, Nonfamilial Hypertriglyceridemia, Management with İnsulin and Metformin, A Case Report

Severe hypertriglyceridemia is a rare condition in pregnancy. We report a case of gestational, nonfamilial severe hypertriglyceridemia accompanied with gestational diabetes mellitus. Despite an intensive insulin regimen and dietary fat restriction plasma triglyceride levels were remained higher. After a plasmapheresis session, triglyceride levels were reduced nearly 40%. Since plasma glucose and triglyceride levels were higher, metformin therapy was administered. After two weeks of metformin therapy, plasma glucose levels were within target range and triglyceride level was reduced below 1000 mg/dl. She delivered at 38th week of pregnancy via elective cesarean section, a healthy female baby with normal birth weight. Serum triglyceride level decreased immediately to 280 mg/dl after delivery.

Association of clinical and laboratory parameters with ambulatory arterial stiffness index in acromegaly patients

Objective: In this study, we determined the relationship between the ambulatory arterial stiffness index (AASI) and clinical and laboratory parameters in patients with acromegaly. Methods: Sixty-five patients with acromegaly, who visited to Dicle University Medical Faculty Department of Endocrinology (33 females and 32 males), were included in this study. The study control group consisted of 65 subjects. Demographic and clinical data were recorded. Laboratory data (complete blood count, blood urea nitrogen, creatinine, electrolytes, albumin, lipid profile, growth hormone [GH], insulin-like growth factor-1, and the 75-g oral glucose tolerance test) performed over the last year were evaluated. The AASI was obtained from 24-hour ambulatory blood pressure monitoring records of all patients. This study was completed in 15 months from 2013 to 2015. Results: Twelve patients (18.4%) had diabetes and 21 patients (32%) had hypertension. The mean AASI value was 0.41 ± 0.14. The mean AASI value in the control group was 0.25 ± 0.09. Growth hormone (GH) levels were positively correlated with the AASI values. AASI values tended to be higher in hypertensive subjects than that in normotensive individuals. Conclusions: Our results show that the AASI value increased in patients with acromegaly, independent of the increase in blood pressure. The AASI was strongly dependent on the degree of the GH increase in patients with acromegaly and may have an important role predicting cardiovascular risk in patients with acromegaly.

What have we learned from Turkish familial hypercholesterolemia registries (A-HIT1 and A-HIT2)?

BACKGROUND AND AIMS Familial hypercholesterolemia (FH) is a common genetic disease of high-level cholesterol leading to premature atherosclerosis. One of the key aspects to overcome FH burden is the generation of large-scale reliable data in terms of registries. This manuscript underlines the important results of nation-wide Turkish FH registries (A-HIT1 and A-HIT2). METHODS A-HIT1 is a survey of homozygous FH patients undergoing low density lipoprotein (LDL) apheresis (LA). A-HIT2 is a registry of adult FH patients (homozygous and heterozygous) admitted to outpatient clinics. Both registries used clinical diagnosis of FH. RESULTS A-HIT1 evaluated 88 patients (27 ± 11 years, 41 women) in 19 centers. All patients were receiving regular LA. There was a 7.37 ± 7.1-year delay between diagnosis and initiation of LA. LDL-cholesterol levels reached the target only in 5 cases. Mean frequency of apheresis sessions was 19 ± 13 days. None of the centers had a standardized approach for LA. Mean frequency of apheresis sessions was every 19 ± 13 (7-90) days. Only 2 centers were aware of the target LDL levels. A-HIT2 enrolled 1071 FH patients (53 ± 8 years, 606 women) from 31 outpatients clinics specialized in cardiology (27), internal medicine (1), and endocrinology (3); 96.4% were heterozygous. 459 patients were on statin treatment. LDL targets were attained in 23 patients (2.1% of the whole population, 5% receiving statin) on treatment. However, 66% of statin-receiving patients were on intense doses of statins. Awareness of FH was 9.5% in the whole patient population. CONCLUSIONS The first nationwide FH registries revealed that FH is still undertreated even in specialized centers in Turkey. Additional effective treatment regiments are urgently needed.

İNFERTİL BİR ERKEKTE 46XX TESTİKÜLER BOZUKLUK

46 XX erkek cinsel gelisim bozuklugu cok nadir gorulen bir hastaliktir. Y kromozomuna yerlesmis olan SRY (sex-determining region Y) geni cinsiyet belirleyen gendir. Bu gen bolgesini iceren Y kromozomunun bir parcasinin X kromozomuna transloke olmasiyla hastaligin gelistigi dusunulmektedir. Otuz bes yasinda erkek hasta infertilite, cinsel istekte azalma sikayetleriyle poliklinigimize basvurdu. Fizik muayenesinde yuzde kirisikliklar, killanma azligi, kisa boy, kucuk testisler mevcuttu. Hastada hipergonadotropik hipogonadizm ve azospermi saptandi. Hastanin karyotip analizi 46 XX olarak rapor edildi. SRY gen analizi pozitif bulundu. Bu hastalarda spermatogenez olmadigindan testis biyopsisi ile sperm elde edilemez. Hastaligin baslica tedavisi testosteron yerine koyma tedavisidir. Infertilite ile basvuran primer hipogonadizmli hastalarin ayirici tanisinda bu nadir hastalik dikkate alinmalidir.

Psödohipoparatiroidi Tip 1A: Olgu Sunumu

Psodohipoparatiroidizm (PHPT); hedef organin parathormona (PTH) yanit vermedigi kalitimsal bir bozukluktur. Biyokimyasal olarak; hipokalsemi, hiperfosfatemi ve PTH yuksekligi ile karakterizedir. PTH uygulamasina verilen yanit belirgin derecede dusuktur. Tip 1A, biyokimyasal ozelliklere ek olarak Albright herediter osteodistrofisi (AHO) olarak bilinen karakteristik somatik bir fenotipe de sahiptir. Bu fenotipin, kisa boy, yuvarlak yuz, frontal bombelik, brakidaktili, obezite ozelikleri bulunmaktadir. Burada biz, hipokalsemi ve Albright herediter osteodistrofisi tanisi koydugumuz; kalsiyum, aktif D vitamini ile tedavi ettigimiz olgumuzu sunduk.

A case of mediastinitis accompanied with hyperosmolar nonketotic coma

Mediastinitis is a serious infection involving mediastinal spaces after cervical infections spread along the facial planes. A late diagnosis of mediastinitis may result in death. Here we present a diabetic patient suffered from mediastinit accompanied with hyperosmolar nonketotic coma. A 61 years old male patient with type 2 diabetes was admitted to our hospital, with complaint of generalized worsening and fever. A diagnosis of nonketotic hyperosmolar coma was done and proper treatment started immediately. Neck tomography revealed abscess formation in the upper mediastinum. The needle aspirat culture failed to show bacterial growth. After five days of antibiotic treatment the patients symptoms resolved. The abscess formation and pleural effusion almost disappeared on control tomography. No similar case presentation was seen in the current literature. Apart from this case, mediastinit should be keep in mind when a patient suffered from dysphagia, fever and cervical swelling.

Clinical and Demographic Characteristics of 78 Patients with Adrenal Incidentaloma [Adrenal İnsidentalomalı 78 Hastanın Demografik ve Klinik Özellikleri]

Adrenal incidentalomas (AIs) are adrenal lesions detected on abdominal imaging procedures or abdominal laparotomy that had been performed for unrelated reasons. AIs have become a common clinical concern as a result of widespread use of abdominal ultrasound, CT and MR imaging in clinical practice. The aim of this study was to evaluate the demographical and clinical data our patients with AI. This study included data from 78 patients (53 female – 25 male) with AI those followed at Dicle University School of Medicine, Department of Endocrinology and Metabolism, between 2007 and 2013. Data collected from the records were physical and hormonal evaluation, diameter of the lesion, and the features of the lesion on radiological imaging. Also the results of serum cortisol, aldosterone, renin and 24 hour urinary metanephrine and normetanephrine were recorded. The average age of patients were 48.6 ±14.9 years. There was no significant difference in terms of localization of adenomas. Body mass index of patients were 28.54 ± 5.82. Of the patients, 45 (57.7%) were diagnosed as non-functional AI, 10 (12.8%) as subclinical Cushing’s syndrome, 11 (14,1%) as pheochromocytoma, 2(2.6%) as primary hyperaldosteronism, and 3(3.8%) as adrenal carcinoma. Ganglioneuroma was stated in 2 patients (2.6%), myelolipoma was stated in 1 patient (1.3%), adrenal adenoma was stated in 1 patient, adrenal cyst was stated in 1 patient, schwannoma was stated in 1 patient and neoplasia with small circular cells was stated in 1 patients. AIs are currently more frequently detected in clinical practice due to increased use of imaging techniques. Although the vast majority of AIs are benign and non-functioning, appropriate hormonal evaluation and imaging procedures must be performed.

A rare cause of acromegaly: McCune-Albright syndrome

McCune-Albright sendromu, poliostotik fibroz displazi, deride kahverenginde lekelenme (Cafe au lait lekeleri) ve otonomik endokrin hiperfonksiyon ile karakterize bir sendromdur. Bu sendromda yaygin olarak erken puberte ve diger endokrinolojik manifestasyonlar ornegin akromegali, jigantizm, hiperkortizolizm gorulebilir. Akromegali Mc-Cune-Albriht sendromlu hastalarin % 20 sinde gorulebilir. Biz bu sendroma eslik eden bir akromegali vakasini sunduk

Clinical and laboratory characteristics of exenatide-given patients in endocrinology clinic of a university hospital

Amac: Eksenatid, GLP-1 reseptorlerine yuksek afinitede baglanmakta ve endojen GLP-1 etkisi olan glikoz bagimli insulin sekresyonu, gastrik bosalmanin geciktirilmesi, glukagon supresyonu, istah baskilanmasi ve β-hucre kitlesini artirici etkilerini gostermektedir. Tip 2 diyabet tedavisinde metformin ve sulfonilure veya her ikisinin beraber kullanilmasiyla glisemik kontrol saglanamayan ozellikle obez hastalarda kullanilmaktadir. Iyi glisemik kontrol ve kilo kaybi saglamasi nedeniyle kan sekerleri yuksek seyreden oral antidiyabetik tedavinin yetersiz kaldigi vakalarda insulin tedavisine eklenmistir. Calismamizda; klinigimizde en az 4 ay ve daha fazla sureyle eksenatid tedavisi alan hastalarin biyokimyasal ve klinik parametrelerini paylasmayi planladik. Yontemler: Calismaya Temmuz 2011 ile Aralik 2013 tarihleri arasinda eksenatid baslanan ve en az 4 (ort: 7,3) ay takipleri tamamlanan 26 (2 erkek, 24 kadin) hasta alindi. Hastalarin hepsi tedavi oncesi metformin yaninda kombine oral antidiyabetik tedavi altinda iken, 6 hasta metformin tedavisine ek olarak insulin tedavisi almaktaydi. Bulgular: Calismaya alinan hastalarda tedavi sonrasi Hemoglobin A1c duzeylerinde kadinlarda %0.98, erkeklerde % 1.4, vucut agirliginda (kg) kadinlarda % 0.64, erkeklerde % 0.57, beden kitle indeksi olcumlerinde kadinlarda % 0.61, erkeklerde % 0.56 dusme gozlendi. Sonuc: Insulin, metformin veya oral antidiyabetik tedaviyi kombine veya tek basina alan obez hastalarda tedaviye eksenatide eklenmesi ile hastalarda kilo kaybi ve Hemoglobin A1c duzeylerinde dusme tespit edilmistir.