A rare case of renal hydatidosis in a child with congenital solitary kidney.

Hydatid cyst of a solitary congenital kidney is a rare entity because of the small percentage of cases with renal hydatidosis and the reduced number of cases with this renal anomaly. We report a case presenting this extremely rare combination and having a favorable outcome. The diagnosis was confirmed based on an association of imagistic techniques and positive serology. The case was managed using a minimal invasive surgical technique (PAIR) that reduced the operative risks. Additionally, an antihelminthic agent (albendazole) was administered. To our knowledge, this is the first case with such comorbidity and treated through percutaneous approach.

Severe adverse events during antiviral therapy in hepatitis C virus cirrhotic patients: A systematic review.

AIM: To identify severe adverse events (SAEs) leading to treatment discontinuation that occur during antiviral therapy in hepatitis C virus (HCV)-infected cirrhotic patients. METHODS: We identified all the articles published prior to December 2011 in the PubMed, Medline, Lilacs, Scopus, Ovid, EMBASE, Cochrane and Medscape databases that presented these data in cirrhotic patients. These studies evaluated the rate of SAEs leading to discontinuation of standard care treatment: Pegylated interferon (PegIFN) alpha 2a (135-180 µg/wk) or PegIFN alpha 2b (1 or 1.5 µg/kg per week) and ribavirin (800-1200 mg/d). Patients with genotype 1 + 4 underwent treatment for 48 wk, whereas those with genotypes 2 + 3 were treated for 24 wk. RESULTS: We included 17 papers in this review, comprising of 1133 patients. Treatment was discontinued due to SAEs in 14.5% of the patients. The most common SAEs were: severe thrombocytopenia and/or neutropenia (23.2%), psychiatric disorders (15.5%), decompensation of liver cirrhosis (12.1%) and severe anemia (11.2%). The proportion of patients who needed to discontinue their therapy due to SAEs was significantly higher in patients with Child-Pugh class B and C vs those with Child-Pugh class A: 22% vs 11.4% (P = 0.003). A similar discontinuation rate was found in cirrhotic patients treated with PegIFN alpha 2a and those treated with PegIFN alpha 2b, in combination with ribavirin: 14.2% vs 13.7% (P = 0.96). The overall sustained virological response rate in cirrhotic patients was 37% (95%CI: 33.5-43.1) but was significantly lower in patients with genotype 1 + 4 than in those with genotype 2 + 3: 20.5% (95%CI: 17.9-24.8) vs 56.5% (95%CI: 51.5-63.2), (P < 0.0001). CONCLUSION: Fourteen point five percent of HCV cirrhotic patients treated with PegIFN and ribavirin needed early discontinuation of therapy due to SAEs, the most common cause being hematological disorders.

Role of interleukin-28B polymorphism as a predictor of sustained virological response in patients with chronic hepatitis C treated with triple therapy: a systematic review and meta-analysis.

BACKGROUND AND OBJECTIVE: Chronic hepatitis C represents an important health problem. The aim of our meta-analysis was to establish the role of reference single nucleotide (rs) 12979860 allele of interleukin-28B (IL28B) CC versus CT+TT genotype (the most researched allele of IL28B) as a predictor of sustained virological response (SVR) in patients with chronic hepatitis C treated with triple therapy. METHODS: The PubMed, MEDLINE, Lilacs, Scopus, Ovid, EMBASE, Cochrane and Medscape databases as well as abstract books from important gastroenterology and hepatology meetings were searched for all studies published until 15 July 2012 that analysed the relationship between the polymorphism of IL28B and SVR in patients with chronic hepatitis C, genotype 1, treated with pegylated interferon + ribavirin + direct antiviral agents (telaprevir or boceprevir). The following keywords were used: IL28B polymorphism, chronic hepatitis C, sustained virological response, SVR, triple therapy, telaprevir, boceprevir. RESULTS: Odds ratios (ORs) with 95 % confidence intervals were pooled from five study populations (1,641 cases) using a random-effects model. The SVR rate was significantly higher in patients with the CC genotype of IL28B than in those with non-CC genotypes (CT and TT): OR = 3.91 (95 % CI 2.11-7.28), p < 0.0001. Higher SVR rates were obtained in chronic hepatitis C patients with the CC genotype of IL28B, regardless of their therapeutic status (naïve patients: OR = 3.99 [95 % CI 1.67-9.51], p < 0.0001; and previously treated ones: OR = 2.15 [95 % CI 1.35-3.43], p = 0.001). CONCLUSION: IL28B polymorphism seems to influence the SVR rate in patients with chronic hepatitis C treated with triple therapy, but further studies are needed to clarify the mechanism and the influence of other factors on the SVR rates.

Cystic echinococcosis in children and adults: a seven-year comparative study in western Romania.

This study aims to compare the epidemiological, clinical, and laboratory aspects of cystic echinococcosis (CE) in children with those of adults from western Romania, and to determine the specifics of this disease in the younger population. The medical records of the patients diagnosed with CE and hospitalized during 2004-2010 in four western Romanian counties were retrospectively investigated. Overall, 82 children (mean age, 10.8 years) and 369 adults (mean age, 48 years) were diagnosed with CE during the study period. The yearly detection rate was 3.1/100,000 children and 3.4/100,000 adults. The incidence rate registered a peak in children aged 5-14 years (4.4/100,000) and adults aged 60-69 years (5/100,000). Female to male ratio was 1.6:1 in pediatric cases and 1.2:1 in adults. CE was almost twice more frequent in rural areas (4.4/100,000 children and 4.9/100,000 adults) as compared to urban regions (2.3/100,000 children and 2.6/100,000 adults). Hepatic cysts were found more frequently than pulmonary cysts, at a ratio of 3.6:1 in children and 12.8:1 in adults. Most of the cases had no complications (91.5% of children and 87% of adults). Children had higher eosinophil count (7%) and erythrocyte sedimentation rate (ESR) (29.7 mm/h) as compared with adults (eosinophil count, 5.3%, p<0.001; ESR, 22.4 mm/h, p=0.001). The active transmission of the parasite in western Romania is demonstrated by the high incidence of CE in children. Long-term prevention of this disease may be reached through joined legislative efforts focused on the registration of dogs, home slaughter of sheep and swine, veterinary control in abattoirs, destruction of infected materials, and restriction of dogs' access to vegetable gardens and children's parks.

Epidemiology of ascariasis, enterobiasis and giardiasis in a Romanian western county (Timis), 1993-2006.

The purpose of this study is to bring new and important data regarding the epidemiology of ascariasis, enterobiasis and giardiasis in the Romanian largest county during a 14-year period. We have performed a retrospective collection and analysis of the available information provided by the general practitioners to the Statistics Department database of the Timis County Public Health Authority. The mean annual incidence of the studied parasitic diseases during 1993-2006 was the following: 194 cases per 100,000 inhabitants (range: 90-304) for ascariasis, 777 cases per 100,000 inhabitants (range: 417-1241) for enterobiasis and 1076 cases per 100,000 inhabitants (range: 93-1770) for giardiasis. Noteworthy is that Romania reported 90.8% of the total cases of giardiasis at the European Union's level during 2006-2008. The general trend of the incidences throughout the studied period was constant for ascariasis (R(2)=0.192, p=0.1), showed no statistically significant variation (R(2)=0.025, p=0.6) for enterobiasis and was upward for giardiasis (R(2)=0.6, p=0.001). Intestinal parasitoses represent an important public health concern in Romania due to the extremely high incidence rates reported. Special attention should be paid to the young population (0-14 years), where the negative disease consequences on children's health and their educational process may be traced for a long-term. Therefore, efficient educational programs and campaigns should be timely implemented.

New foci of trichinellosis in western Romania, 2011.

Romania reported the highest incidence of trichinellosis in the world in 2004, and the figures continue to be high. This report aims to bring new information regarding 2 foci of trichinellosis that occurred in the winter of 2011 in a western Romanian region. Data were collected from the outbreak reports and hospitalization documents of the patients diagnosed with this condition. Of 22 patients admitted to hospitals, the medical records were available in 20 cases. The mean age of the study group was 37.4±13.6 years (range: 3-56) with most of them (n=7; 35%) aged 30-39 years old. The majority of the patients (n=19; 95%) were adults (≥18 years old), males (n=13; 65%) and rural inhabitants (n=13; 65%). Mylagia represented the most common clinical symptom (n=17; 85%). All but one of the patients had benign and moderately severe courses of the disease. The mean eosinophil counts and leukocyte counts were 17±10.7% and 10,162.4±3798.4 cells/mm(3), respectively. Re-emergence of trichinellosis in this region has deep roots in the population's ancestral customs and education. To limit the occurrence of the disease, new and efficient public health strategies should be designed and implemented in the nearest future.

Giant pulmonary and hepatic hydatid cysts in a child.

This case report focuses on hydatidosis, one of the most important parasitic zoonoses in Romania. We describe an interesting paediatric case of an eight-year old boy from a rural region presenting with a both giant and life-threatening pulmonary cyst (that was successfully managed) and a hepatic cyst. Noteworthy are the negative consequences of this disorder on children's health and development as a result of prolonged hospitalizations, surgical interventions and chemotherapy.

Human cystic echinococcosis in two south-western and central-western Romanian counties: a 7-year epidemiological and clinical overview.

PURPOSE: To analyze the epidemiological and clinical characteristics of human cystic echinococcosis (CE) in two Romanian counties, of which one is known from a previous survey as hyperendemic, whereas in the other no extensive studies have been undertaken so far. METHODS: Retrospective investigation of the medical records of the patients diagnosed with this condition and hospitalized during 2004-2010 in Caras-Severin and Hunedoara counties. RESULTS: A total of 190 patients aged 5-88 years (44.3±21.8 years old) were diagnosed with CE. More than one fifth of cases (21.1%) were younger than 19 years old, indicating active transmission of the disease. The yearly average incidence was 3.3 cases/100,000 inhabitants. The highest incidence was registered in patients aged 60-69 years (6.2 cases/100,000 inhabitants), regardless of their gender. Liver involvement occurred in 84.7% of patients. One fifth of the cases (20%) presented complications. Normal values of the eosinophil counts and leukocyte counts predominated within the study group. The length of the hospital stay varied between 1 and 65 days with a mean of 13.1±9.5 days. CONCLUSIONS: CE has a significant burden in this part of Romania, and continues to be a public health concern. Consequently, better implementation of preventive measures and extensive informative campaigns for the population are mandatory.

Response to standard of care antiviral treatment in patients with HCV liver cirrhosis - a systematic review.

BACKGROUND: Patients with HCV liver cirrhosis are a category difficult to treat. The aim of this study was to establish the sustained virological response (SVR) rates in HCV patients with liver cirrhosis treated with standard of care therapy (Pegylated Interferon and Ribavirin for 48 weeks in genotypes 1 and 4 and 24 weeks in genotypes 2 and 3). METHODS: Searching the PubMed, Medline, Lilacs, Scopus, Ovid and Medscape databases we identified all the articles published until February 2011 that included only HCV cirrhotic patients. These studies evaluated the SVR after standard of care treatment: Pegylated Interferon alpha 2a (doses ranging between 135-180 µg/week) or Pegylated Interferon alpha 2b (1 or 1.5 µg/kg/week) and Ribavirin (doses ranging between 800-1200 mg/day). We used the following key words: HCV, liver cirrhosis, sustained virological response (SVR). RESULTS: The overall SVR rate was 33.3% (95%CI-confidence interval=30.6-36.2%). SVR was significantly higher in patients with genotypes 2 and 3 (422 patients) as compared to those with genotypes 1 and 4 (692 patients): 55.4% (95%CI=50.7-60.1) versus 21.7% (95%CI=18.7-25), p < 0.0001. CONCLUSION: The overall SVR rate in cirrhotic patients treated with standard of care therapy is 33.3%, but lower in cases affected by genotypes 1 and 4 (21.6%) which makes them a priority regarding the development of more potent drugs for effective treatment.

Knowledge and interests of Romanian medical students in parasitology, tropical and travel medicine.

As travel has become easier and faster, the rate of tropical infections across the world is expected to increase; more students working abroad are going to encounter these diseases more often. Disorders of parasitic etiology play an important role in travel and tropical medicine. The aim of our study was to assess the preclinical students' knowledge regarding parasitic diseases, tropical and travel medicine in the broad context of their professional background. A total of 346 Romanian medical students completed a 13-item questionnaire on the above-mentioned topics. In order to allow for complex evaluation, the questionnaire also included items related to their extracurricular training as well as their future perspectives. The majority of the students (97.7%) declared they had prior knowledge (before studying parasitology) of malaria. Most of the responders (90.2%) knew that a journey in (sub)tropical regions requires adequate prophylactic measures. About a quarter of those interviewed (26.4%) would agree to practice tropical medicine after graduation. They were mainly interested in helping people from underdeveloped countries regardless of remuneration (52.7%). The majority of students (59.8%) wished to practice clinical medicine. It has been observed that fewer than 5% of the questioned students had ever read a scientific paper or book in the field of tropical medicine. English was the most commonly spoken foreign language (92.8%), and 99.1% of students had at least intermediate computer skills. Finally, 71.6% of students would choose to practice the specialty of travel medicine if it were available in Romania. The implementation of appropriate measures towards the globalization of medical teaching in Romanian universities should represent an important issue in this new millennium, in which borders between various nations are starting to fade; otherwise the next generations of physicians will lose the chance to gain wider experiences and share the international influences on health.

Reviews on trichinellosis (IV): hepatic involvement.

Trichinella sp. larvae are released from the intestine and usually migrate through the liver into the general circulation. Nevertheless, hepatic involvement does not represent a leading feature of human trichinellosis. This narrative systematic review focuses exclusively on hepatic complications of trichinellosis and includes a brief overview and analysis of selected cases reported in the literature. Our major goals were to gather important data to understand the substrate of trichinous liver injury and to provide helpful clinical hints for practitioners. To our knowledge, this is the first international review dedicated to this topic. Thirty two cases were detailed enough to allow pooled analysis. The mean age of the analyzed group was 30.5±17 years old with most cases aged 19 to 29 years (29%). Hepatomegaly was noticed in 34.4% of cases, hypoalbuminemia in 40.6%, and hypoproteinemia in 34.4%. Our systematic analyses demonstrated that hepatic complications were mainly evidenced in fatal cases of trichinellosis (65.6%). The most frequent necroptic findings were parenchymatous and/or fatty degeneration of the liver (59.4%). Although less discussed in the literature than other complications, hepatic involvement should be considered more carefully because of its significant consequences on protein metabolism and liver function. Difficult to be revealed intra vitam, hepatic involvement may represent an additional concern to the classical clinical picture of trichinellosis and other life-threatening complications, especially in severe cases of infection. Consequently, physicians should be aware of any possible liver involvement to ensure adequate management of their patients.

Epidemiology of foodborne botulism in Romania 1980-2009.

In 2007, Romania, the largest southeastern European country, reported the highest notification rate of botulism cases in the European Union (0.18 per 100,000 inhabitants), which was 18 times higher than the reported rate in the United States (0.01 per 100,000 inhabitants). This report aims to analyze published and unpublished surveillance data on foodborne botulism in Romania from 1980 to 2009 in the context of political and economical changes that occurred in the former communist countries. The mean annual incidence rate of botulism cases was significantly lower during the late communist period, 1980-1989 (0.06±0.03 cases per 100,000 inhabitants), than during the years 1990-1999 (0.1±0.04 cases per 100,000 inhabitants, p=0.01) and 2000-2009 (0.12±0.04 cases per 100,000 inhabitants, p<0.01). The highest incidence rates were registered in 1998 and 2007 (0.18 cases per 100,000 inhabitants), whereas the lowest incidence rate was registered in 1983 (0.02 cases per 100,000 inhabitants). The disease was usually associated with the consumption of home prepared meat products (mainly raw sausages, smoked-dried meat). Most of the laboratory-confirmed cases tested positive for type B toxin (99%). During 2007-2009, the incidence was particularly high in northwestern and western Romania (0.5 and 0.3 cases per 100,000 inhabitants, respectively). The fatality rate was 60% before 1995 and decreased to 12.2±8.5% during 1999-2009. The general ascending trend of infection rates throughout the period studied demonstrates the need for the implementation of correct public health and educational measures to fully prevent this severe disease.

Reviews on trichinellosis (III): cardiovascular involvement.

Cardiovascular complaints represent the most important complications of trichinellosis and are particularly evident in the moderate and severe courses of the disease. An overview of 17 epidemiological studies on trichinellosis (including 5268 cases) indicated that cardiovascular events occurred in 26% of patients (range: 1.5%-75%). This narrative systematic review focuses exclusively on the cardiovascular involvement of trichinellosis and includes a brief overview and analysis of selected cases reported in the literature. Our primary goal was to increase the awareness of infectious diseases specialists, cardiologists, and general practitioners about these major complications and their possible fatal outcomes. To our knowledge, this is the first international review of this topic. Eighty-nine cases were detailed enough to allow pooled analysis (in terms of sex, age, source of infection, clinical characteristics, outcome, and routine laboratory parameters). The mean age of the analyzed group was 36.8±14.7 years (range: 3-80), with most cases in the age group of 18-29 years (25.8%, n=23). Males slightly predominated (53.9%), and pork was responsible for 91.2% of the infections. Electrocardiographic (ECG) changes represented the most common findings (80.9%). The mean eosinophil count was 25.9%±18.9% (range: 1-76). Heart failure significantly predominated in patients who died (p=0.047), whereas ECG abnormalities were reported more frequently in those who made complete recovery (p<0.0001). Because of their life-threatening character (our systematic analysis detected a case fatality ratio of 22.5%), we believe that cardiovascular complications must be considered in any patient suspected or diagnosed with trichinellosis. At the same time, practitioners should be able to establish the correct diagnosis in a timely manner and to make the best decision toward the management of these cases. Additionally, public health services located in endemic regions must be perpetually aware of this condition and must implement efficient prophylactic measures.

Medical controversies and dilemmas in discussions about the illness and death of Mihai Eminescu (1850-1889) Romania's national poet.

Mihai Eminescu, the first great Romanian poet and a defining figure in Romanian culture, may be situated among the most important romantic bards of his times--Byron, Novalis, Holderlin, Hugo, Lamartine, and Leopardi. He was born to a family affected by tuberculosis and predisposed to mental disorders. Although Eminescu may have suffered from bipolar disorder and may have been killed by iatrogenic mercury poisoning, erysipelas, head trauma, or endocarditis, his final illness and death continue to be associated with the most stigmatized disease of those times, syphilis. This historical review addresses the pros and cons of arguments about the diseases from which Eminescu may have suffered, as well as their causes and consequences. The key question is whether syphilis was the disease that led to Eminescu's death. After reviewing medical hypotheses, we conclude that he suffered from bipolar disorder and died from mercury poisoning, an inadequate treatment administered as the result of an inaccurate diagnosis (syphilis). Hospitalized in inappropriate places and treated by incompetent physicians, he suffered not only physical, but moral, distress and died prematurely. According to a letter he sent to a friend, he rightly considered himself a sacrificed man.

Hemochromatosis genotypes and risk of iron overload--a meta-analysis.

PURPOSE: The incomplete phenotypic penetrance of high iron Fe genotypes in relation to hemochromatosis poses a practical problem in the interpretation of the genotyping results by clinicians. We carried out meta-analyses of the associations between hemochromatosis genotypes C282Y/C282Y, C282Y/H63D, C282Y/wild-type, H63D/H63D, H63D/wild-type, versus wild-type/wild-type and iron overload, both provisional (elevated serum iron markers) and documented (elevated serum iron markers associated with evidence of iron excess based on liver biopsy and/or quantitative phlebotomy). METHODS: After reviewing 3572 article titles and evaluating 92 articles in detail, odds ratios were pooled from 43 study populations (9986 cases and 25,492 controls) using a random-effects model. RESULTS: Homozygosity for either variant or compound heterozygosity was associated with both provisional and documented iron overload. Single heterozygosity conferred no risk for elevated hepatic iron index and/or mobilizable iron by quantitative phlebotomy. In patients with clinical hereditary hemochromatosis, no evidence of provisional and documented iron overload with transferrin saturation (TS) values greater than 55% was evidenced for C282Y and H63D single heterozygotes whereas documented iron overload including TS of 45% to 50% was weakly associated with C282Y/wild-type genotype; H63D/H63D genotype was not associated with documented iron overload in patients with TS values of 45% to 50%. CONCLUSIONS: The results, mainly from case-control studies, cannot necessarily be extrapolated to the general population.

Reviews on trichinellosis (I): renal involvement.

Besides cardiac and neurological complications of trichinellosis, renal involvement is the most important as regards the cases published and discussed in literature and is generally characteristic of the severe forms of the disease. This article focuses exclusively on the renal disturbances that may occur in this parasitic illness and includes a synopsis of published cases. Our primary goal was to increase the awareness of infectious diseases specialists, nephrologists, and general practitioners about these complications with possible fatal outcome. To our knowledge, this is the first international review dedicated to this topic. Cases for which enough details were available have been analyzed, and the results indicated that the mean age of the affected patients was 31.6 years, with a slightly male predominance (56.2%). The fatality rate was 26.1%. Proteinuria was detected in 84.8% of cases, hematuria in 30.4%, and casts were observed in urine specimens from 23.9% of patients. Renal failure was evidenced in 8.7% of patients, whereas renal lesions were found by biopsy or necropsy in 43.5% of cases. Of the routine laboratory parameters that are relevant for trichinellosis, mean eosinophil count was 32.2% and mean leukocyte count was 17,312 cells/µL. Finally, we emphasize on the necessity of establishing an early and correct diagnosis of trichinellosis to avoid later and severe complications. Additionally, implementation of public health and food safety prophylactic measures against the disease must represent an immediate priority for the affected regions.

Reviews on trichinellosis (II): neurological involvement.

Neurological involvement may occur in 0.2%-52% of cases with trichinellosis, generally in the most severely affected patients. This review focuses on neurotrichinellosis and includes a brief overview of selected cases reported in the literature. Our primary goal was to increase the awareness of infectious diseases specialists, neurologists, and general practitioners about these major complications with possible fatal outcome. Seventy seven of the cases, for which enough details were available, have been pooled for statistical analysis. The mean age of the investigated group was 34.6 ± 16.8 years. Patients with both focal and diffuse manifestations predominated (55.8%), and they were significantly older (40 ± 15.5 years old) than those who presented solely focal (28.9 ± 17.8 years old; p = 0.03) or diffuse lesions (27.9 ± 15.3 years old; p = 0.007). In most of the cases (59.7%), complete recovery was reported, whereas 23.4% of cases had sequelae and 16.9% of the patients died. Patients who died had significantly lower eosinophil counts (13.8% ± 14%) when compared with those who made complete recovery (28.7% ± 18%; p = 0.015) and the cases with sequelae (35% ± 17.9%; p = 0.006). To sum up, trichinellosis must be considered in the differential diagnosis of any patient with encephalitis or other central nervous system malady of ambiguous etiology.

Trichinellosis in children and adults: a 10-year comparative study in Western Romania.

INTRODUCTION: This study aims to evaluate and compare the epidemiologic, laboratory, clinical, and therapeutic aspects of trichinellosis in child and adult populations residing in Western Romania. PATIENTS AND METHODS: We have retrospectively investigated the medical records of patients with trichinellosis hospitalized between 1996 and 2005 in 5 infectious diseases hospitals located in 4 Western Romanian counties. RESULTS: Trichinellosis was diagnosed in 1344 patients, of whom 348 were children (26%) and 996 were adults (74%). The annual average incidence was 8.4 cases per 100,000 in children and 7.7 cases per 100,000 in adults. The mean ages for the children and adults were 11 ± 4.4 years and 38.1 ± 14.2 years, respectively. Myalgias and complications of trichinellosis were detected less frequently in children who also had lower eosinophil counts, leukocyte counts, and erythrocyte sedimentation rates compared with those for adults. Albendazole and mebendazole had comparable efficacies in adult patients; however, albendazole proved to be a better choice than mebendazole for the treatment of children. CONCLUSIONS: Trichinellosis occurs commonly among inhabitants of Western Romania. Although the general trend of decline in the incidence of trichinellosis cases cannot be used as a statistical predictor of future improvement, it provides encouragement and demonstrates the need for the implementation of correct public health and educational measures to fully prevent and eradicate trichinellosis in Western Romania.

Hereditary hemochromatosis: awareness and genetic testing acceptability in Western Romania.

AIMS: a public health strategy to promote early diagnosis of hemochromatosis gene (HFE)-related hemochromatosis (HFE-HH) largely depends on people's acceptance of available screening tests. The present study aimed at evaluating patient awareness of HFE-HH and their acceptance of DNA testing in western Romania. RESULTS: a total of 221 participants were randomly recruited from the ambulatory unit of the Emergency County Hospital in Timisoara, Romania. They received brief information on HFE-HH and were assessed for the signs and symptoms of hemochromatosis. HFE genotyping was offered to all of them. Only two cases (0.9%) had previous knowledge of HFE-HH. Twenty-one cases (9.5%) underwent genetic testing. Characteristics associated with test acceptance were age <45 years, male gender, and educational attainment. Acceptance was associated with a desire to know if they had HFE-HH (85.7%). The most prevalent refusal reason was a desire for more information (41%). CONCLUSIONS: larger educational programs are required to increase people's awareness about HFE-HH in western Romania. Nevertheless, within health care settings, the importance of disease detection and patient's educational background appear to be essential for achieving high rates of participation in the genetic test.