Italian National Registry Research Articles

Nipple sparing mastectomy: Surgical and oncological outcomes from a national multicentric registry with 913 patients (1006 cases) over a six year period

BackgroundNipple sparing mastectomy is deemed surgically and oncologically safe based on a long lasting literature data from reviews of single institution series. This study aims at evaluating surgical and oncological outcomes of NSM on a large multi-institutional scale, by means of the Italian National registry. MethodsIn July 2011 a panel of Italian specialists agreed upon and designed a National database of NSM. Centers with at least 150 cancers per year and following the National follow-up schedule guidelines could participate inserting any NSM case performed, retrospectively and prospectively from that moment on. In March 2015 analysis of data was accomplished. Dataset for this study consists of cases performed in the period between January 1st 2009 and December 31st 2014. Results913 Women were included in the analysis, for a total of 1006 procedures. Prophylactic mastectomies were 124 (12.3%). MRI utilization increased over time. NSM failure rate, with NAC removal for any reason was 11.5%. NAC necrosis rate was 4.8%. Larger skin-flap necrosis rate was 2.3%. Major surgical complications rate was 4.4%. Oncological outcomes were calculated among primitive EBC cases only: locoregional recurrences rate was 2.9%, NAC recurrence 0.7%. Systemic recurrence rate was 1.0%. Five deaths (0.7%) were registered. ConclusionsMore than 10% of NSM procedures are prophylactic mastectomies. MRI is gaining more importance over time. Surgical and oncological results show that NSM is effective. This National multicentric analysis enables a comparison of results with no geographical differences and a “safe” state of the art of NSM in Italy.

Preliminary Results from a National Enquiry of Infection in Abdominal Aortic Endovascular Repair (Registry of Infection in EVAR - R.I.EVAR)

To preliminary report on epidemiology, risk factors, diagnosis, treatments, and outcomes in a multicenter series of patients treated for endovascular aortic repair (EVAR) infection and detected by an Italian National enquiry. From June 2012, 26 cases of abdominal aortic endograft infection were collected by a National Enquiry and recorded in the Italian National Registry of Infection in EVAR. Cases collected were available for patients submitted to EVAR implantation from January 2004 to June 2013. Mean time from EVAR treatment to infection diagnosis was 20.5 ± 20.3 months (range, 1-72). In 6 cases (23.1%), an aortoenteric fistula (AEF) was detected. Positive microbiologic cultures were found in 20 patients (76.9%). More than 1 infectious agent was found in 6 cases (19.2%). EVAR infection treatment was conservative in 4 cases, endovascular in 2. Endograft excision was performed in 10 cases by conventional treatment (aortic stump + extra-anatomic bypass) and in 10 cases by in situ reconstruction (cryopreserved allograft or rifampin-soaked silver Dacron graft). A 30-day mortality was 38.4% (10 of 26 cases), 3 patients died from 2 to 24 months after infection treatment, accounting for a mean time from infection treatment to death of 1.25 ± 0.62 months. Mortality rates were 50% in all treatment groups. In those survived (13 of 26 cases) recurrence-free follow-up after infection treatment was 27.9 ± 22.4 months (range, 2-74). Four patients with AEF died in the first month after treatment (66.6%). Suprarenal endografts required supraceliac aortic cross-clamping for removal. Supraceliac cross-clamping was burdened by higher mortality rates than infrarenal cross-clamping (71.4% vs. 30.7%). EVAR infection diagnosis is burdened by extremely high mortality rates. Prospective registries could help monitoring outcomes in EVAR infection patients and, possibly, developing new surveillance protocols in patients at high risk of recurrence.

Epidemiological patterns of asbestos exposure and spatial clusters of incident cases of malignant mesothelioma from the Italian national registry.

BackgroundPrevious ecological spatial studies of malignant mesothelioma cases, mostly based on mortality data, lack reliable data on individual exposure to asbestos, thus failing to assess the contribution of different occupational and environmental sources in the determination of risk excess in specific areas. This study aims to identify territorial clusters of malignant mesothelioma through a Bayesian spatial analysis and to characterize them by the integrated use of asbestos exposure information retrieved from the Italian national mesothelioma registry (ReNaM).MethodsIn the period 1993 to 2008, 15,322 incident cases of all-site malignant mesothelioma were recorded and 11,852 occupational, residential and familial histories were obtained by individual interviews. Observed cases were assigned to the municipality of residence at the time of diagnosis and compared to those expected based on the age-specific rates of the respective geographical area. A spatial cluster analysis was performed for each area applying a Bayesian hierarchical model. Information about modalities and economic sectors of asbestos exposure was analyzed for each cluster.ResultsThirty-two clusters of malignant mesothelioma were identified and characterized using the exposure data. Asbestos cement manufacturing industries and shipbuilding and repair facilities represented the main sources of asbestos exposure, but a major contribution to asbestos exposure was also provided by sectors with no direct use of asbestos, such as non-asbestos textile industries, metal engineering and construction. A high proportion of cases with environmental exposure was found in clusters where asbestos cement plants were located or a natural source of asbestos (or asbestos-like) fibers was identifiable. Differences in type and sources of exposure can also explain the varying percentage of cases occurring in women among clusters.ConclusionsOur study demonstrates shared exposure patterns in territorial clusters of malignant mesothelioma due to single or multiple industrial sources, with major implications for public health policies, health surveillance, compensation procedures and site remediation programs.Electronic supplementary materialThe online version of this article (doi:10.1186/s12885-015-1301-2) contains supplementary material, which is available to authorized users.

Multiple Factors Influencing the Incidence of Congenital Hypothyroidism Detected by Neonatal Screening

Background/Aims: Over the years a rise in the incidence of congenital hypothyroidism (CH) has been described worldwide. The aim of our study was to investigate trends in the incidence of CH in Italy over the period 1987-2008, and to investigate which factors may have influenced the CH incidence in our country. Methods: Data were derived from the Italian National Registry of Infants with Congenital Hypothyroidism. Since 1998 the laboratory procedures related to neonatal screening for CH have changed drastically. Accordingly, we estimated the CH incidence during the period 1987-1998 (period 1) and the period 1999-2008 (period 2). Results: The incidence of CH confirmed at birth (including transient hypothyroidism) has increased from 1:3,000 liveborn infants in period 1 to 1:1,940 in period 2 (+54%), whereas the incidence of purely permanent CH increased from 1:3,200 to 1:2,320 (+38%). Lowering of the TSH cutoff was the most important factor contributing to the increase of CH incidence in Italy. Moreover, an increment of 58% of preterm babies with permanent CH was found in period 2 compared with period 1. Conclusion: Our results suggest that more than one cause is responsible for the rise in the increasing CH incidence, with lowering of the screening TSH cutoff and an increased survival rate of a growing number of preterm babies both playing an important role.

Current status of Italian Registries on inherited bleeding disorders.

Inherited bleeding disorders are a group of congenital coagulopathies resulting when deficiencies of the proteins responsible for coagulation, platelet function or fibrinolysis occur. Haemophilia A (HA, deficiency of factor VIII), Haemophilia B (HB, deficiency of factor IX) and von Willebrand Disease (vWD) are the most frequent, being >90% of all inherited bleeding disorders with a prevalence of 0.5, 0.1 and 1–5/10,000 respectively1–3. Other rare inherited bleeding disorders are represented by deficiencies of factor I, II, V, VII, X, XI, XII, XIII, combined V+VIII, combined vitamin K-dependent factors, with a general population prevalence between 1/500,000 and 1/2,000,0004. Inherited bleeding disorders require wide-ranging care and effective management within a multidisciplinary team setting. The modern treatments of inherited bleeding disorders are now remarkably effective, although expensive. In Italy the epidemiological data on inherited bleeding disorders derive from three registries: The Italian National Registry for Rare Diseases (RNMR); The National Registry of Congenital Coagulopathies (RNCC); The Haemophilia Database of the Italian Association of Haemophilia Centres (AICE). These registries differ in terms of organisation, purpose and data collection process. A general description and results for each registry is reported as follow.

Adjuvant High-Dose Chemotherapy with Autologous Hematopoietic Stem Cell Support for High-Risk Primary Breast Cancer: Results from the Italian National Registry

The efficacy of high-dose chemotherapy (HDC) and autologous hemopoietic progenitor cell transplantation (AHPCT) for breast cancer (BC) patients has been an area of intense controversy among the medical oncology community. The aim of this study was to assess toxicity and efficacy of this procedure in a large cohort of high-risk primary BC patients who underwent AHPCT in Italy. A total of 1183 patients receiving HDC for high-risk BC (HRBC) (>3 positive nodes) were identified in the Italian registry. The median age was 46 years, 62% of patients were premenopausal at treatment, 60.1% had endocrine-responsive tumors, and 20.7% had a human epidermal growth factor receptor 2 (HER2)–positive tumor. The median number of positive lymph nodes (LN) at surgery was 15, with 71.5% of patients having ≥ 10 positive nodes. Seventy-three percent received an alkylating agent-based HDC as a single procedure, whereas 27% received epirubicin or mitoxantrone-containing HDC, usually within a multitransplantation program. The source of stem cells was peripheral blood in the vast majority of patients. Transplantation-related mortality was .8%, whereas late cardiac and secondary tumor-related mortality were around 1%, overall. With a median follow-up of 79 months, median disease-free and overall survival (OS) in the entire population were 101 and 134 months, respectively. Subgroup analysis demonstrated that OS was significantly better in patients with endocrine-responsive tumors and in patients receiving multiple transplantation procedures. HER2 status did not affect survival probability. The size of the primary tumor and number of involved LN negatively affected OS. Adjuvant HDC with AHPCT has a low mortality rate and provides impressive long-term survival rates in patients with high-risk primary BC. Our results suggest that this treatment modality should be proposed in selected HRBC patients and further investigated in clinical trials.

A11 RISK FACTORS OF NEONATAL THROMBOEMBOLIC EVENTS: A SINGLE CENTER CASE CONTROL STUDY

Methods: Retrospective data review and analysis regarding the outcomes after discharge of neonates diagnosed with an episode of neonatal (N) thromboembolic events (TE), occurred during the stay in a neonatal intensive care unit (NICU) in the period 2008–2013, and recorded in the Italian National Registry of Thrombosis in Childhood (RITI). Results: A total of 16 cases (data summarized in Table 1) of TEs occurred. The episodes were 5 Cerebral Sinus Venous Thrombosis (CSVT), 6 Arterial Ischemic Stroke (AIS), 3 Systemic Venous Thrombosis (SVT) and 2 Arterial Systemic Thrombosis (AST). As for the outcomes, 2 patients with AST died in the first week because of prematurity and multi-organ failure, 2 patients with SVT had complete resolution at discharge, and 1 (portal venous thrombosis) recovered from initial liver failure and cholestasis after 6 months. At the 24 month follow-up, patients with AIS presented mild neurological impairment (Pediatric Stroke Outcome Measure score <2) in 50% of cases. In addition, 1 patient with CSVT developed seizures and severe neurological impairment also related to a concurrent polymalformative syndrome.

Congenital Hypothyroidism due to Defects of Thyroid Development and Mild Increase of TSH at Screening: Data From the Italian National Registry of Infants With Congenital Hypothyroidism

Over the years lower TSH cutoffs have been adopted in some screening programs for congenital hypothyroidism (CH) worldwide. This has resulted in a progressive increase in detecting additional mild forms of the disease, essentially with normally located and shaped thyroid. However, the question of whether such additional mild CH cases can benefit from detection by newborn screening and early thyroid hormone treatment is still open. The aim of this study was to estimate the frequency of cases with mild increase of TSH at screening in the Italian population of babies with permanent CH and to characterize these babies in terms of diagnosis classification and neonatal features. Data recorded in the Italian National Registry of infants with CH were analyzed. Between 2000 and 2006, 17 of the 25 Italian screening centers adopted a TSH cutoff at screening of <15.0 μU/mL. It was found that 21.6% of babies with permanent CH had TSH at screening of 15.0 μU/mL or less, whereas this percentage was 54% in infants with transient hypothyroidism. Among the babies with permanent CH and mild increase of TSH at screening (≤15 μU/mL), 19.6% had thyroid dysgenesis with serum TSH levels at confirmation of the diagnosis ranging from 9.9 to 708 μU/mL. These babies would have been missed at screening if the cutoff had been higher. Lowering TSH cutoff in our country has enabled us to detect additional cases of permanent CH, a number of which had defects of thyroid development and severe hypothyroidism at confirmation of the diagnosis.

The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance.

The Italian screening program for primary congenital hypothyroidism (CH) is an integrated system including neonatal screening, diagnosis, treatment, follow-up, and nationwide surveillance of the disease. The aim of the Italian screening program for CH is to identify not only babies with severe permanent CH (core target), but also babies with mild persistent and transient forms of CH who could have a benefit from an early replacement therapy (secondary target). In the last years, despite the important results obtained in terms of standardization of screening and follow-up procedures, it has become clear the need of optimizing the program in order to harmonize the screening strategy and the screening procedures among Regions, and to improve the diagnostic and therapeutic approach in all affected infants. On the basis of available guidelines, the experience of the Italian screening and clinical reference centers, and the knowledge derived from the nation-wide surveillance activity performed by the Italian National Registry of Infants with CH, the Italian Society for Pediatric Endocrinology and Diabetology together with the Italian Society for the Study of Metabolic Diseases and Neonatal Screening and the Italian National Institute of Health promoted actions aimed at improving diagnosis, treatment, follow-up and surveillance of CH in our country. In this paper the most important actions to improve the Italian screening program for CH are described.

Cardiovascular Measures in Children and Adolescents with Attention-Deficit/Hyperactivity Disorder Who Are New Users of Methylphenidate and Atomoxetine

The purpose of this study was to assess the cardiovascular effects of drugs used for attention-deficit/hyperactivity disorder (ADHD) in children and adolescents treated in community care centers in Italy. This study was an open, prospective, observational study of youth with ADHD treated with atomoxetine (ATX) and methylphenidate (MPH). Measurements of blood pressure and heart rate, and electrocardiogram (ECG) assessment were performed at baseline and at regular intervals up to 24 months. By June 2010, 1758 youth were enrolled in the Italian ADHD National Registry. Statistically significant increases were observed in cardiovascular measures: in the MPH group after 6 months in heart rate (+2.01, p = 0.01); in the ATX group after 6 months in diastolic pressure (+1.60, p = 0.01) and in heart rate (+2.93, p = 0.001), and after 12 months in heart rate (+3.26, p = 0.003). Compared with the baseline, 59 patients had an alteration of ECG during the follow-up period. Although at 12 months, the probability of detecting an abnormal ECG was higher in the MPH group than in the ATX group, only 2 out of 30 cases at 6 months with altered ECG were considered to have experienced serious adverse events. One case was treated with ATX and one with MPH, and arrhythmia was the detected abnormality. Treatment with MPH and ATX in youth appears to have a small but significant impact on the cardiovascular system. The long-term impact of these medications is unknown. Several clinically meaningless ECG alterations were observed mostly in MPH-treated youth. We therefore suggest evaluating cardiovascular risks at baseline.

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disease with a prevalence of 1 in 20 000. Almost all patients with FSHD carry deletions of integral copies of tandem...

The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism

All the Italian Centres in charge of screening, diagnosis, and follow-up of infants with congenital hypothyroidism participate in the Italian National Registry of affected infants, which performs the nationwide surveillance of the disease. It was established in 1987 as a program of the Health Ministry and is coordinated by the Istituto Superiore di Sanità. The early diagnosis performed by the nationwide newborn screening programme, the prompt treatment and the appropriate clinical management of the patients carried out by the Follow-up Centres, and the surveillance of the disease performed by the National Register of infants with congenital hypothyroidism are the components of an integrated approach to the disease which has been successfully established in our country.The aim of the Register is to monitor efficiency and effectiveness of neonatal screening, to provide disease surveillance and to allow identification of possible aetiological risk factors for the disease. During the past twenty years the active and continuous collaboration between the Register and the Italian Screening and Follow up Centres for Congenital Hypothyroidism allowed to perform a standardization of screening procedures and considerable improvements in the time at starting treatment and in the dose of therapy. Furthermore, the large amount and the high quality of information collected in the Register provided a unique opportunity for research into the disease. This because data collected in the Register are highly representative as referred to the entire Italian population with congenital hypothyroidism. The results derived from the epidemiological studies performed in these years, by using the Register database, contributed to deepen the knowledge of congenital hypothyroidism, to start identifying the most important risk factors for the disease, and to orient molecular studies aimed at identifying new genes involved in the aetiology of this condition.

Infective endocarditis in the real world: the Italian Registry of Infective Endocarditis (Registro Italiano Endocardite Infettiva – RIEI)

In the last 30 years, major improvements have been made in understanding the pathogenesis, diagnosis and treatment of infective endocarditis. Nevertheless, mortality still remains high, close to 30-40% at 1 year, and its reduction remains the main challenge. Moreover, important epidemiological changes have been recorded. Social changes in Western countries have led to an increase in the mean length of life, and thus in degenerative valvular diseases, whereas rheumatic heart disease has almost disappeared. Increasing medicalization has led to a rise in complications and diseases related to longer hospital stay, surgical therapies and other invasive interventions. At the same time, there is an increase in immunosuppressive therapies, diseases such as cancer, diabetes mellitus and renal insufficiency that may enhance the disease. Further knowledge is needed for specific subgroups to improve both treatment and prognosis. Nevertheless, randomized trials are lacking to guide the management of the disease, and the role and indications of antibiotic prophylaxis are still the subject of debate. International multicenter studies are providing new important findings based on the experience of tertiary centers; these results may reflect referral biases. The proposal of an Italian national registry on infective endocarditis (RIEI) will overcome these limitations and provide a wide picture of the national presentation of the disease. The aim of the registry is to improve the management of infective endocarditis, through a better understanding of demographic, clinical, therapeutic and prognostic features of the disease in the real world. The background, rationale, aims and expected results of the registry are reviewed.

High Risk of Congenital Hypothyroidism in Multiple Pregnancies

In Italy, the surveillance of congenital hypothyroidism (CH) is performed by the Italian National Registry of Infants with CH (INRICH). Up to now, about 3600 infants with CH are recorded in the INRICH, and a high number of twins are included. Our objective was to estimate the risk of CH in multiple and single deliveries and to compare neonatal features of CH twins with twins from the general population. The Italian population of CH infants recorded in the INRICH from 1989-2000 was investigated. A more than 3-fold higher frequency of twins was found in the CH population than in the general population, and for the first time, it was possible to estimate the CH incidence in multiple (10.1 in 10,000) and single deliveries (3.2 in 10,000 live births). Significantly higher frequencies of in situ gland as well as lower TSH mean level at screening were found in twin than in singleton CH babies. The concordance rate for permanent CH was very low (4.3%) and due to only three concordant couples. However, a high recurrence risk for CH was estimated in siblings of affected babies recorded in the INRICH, including twins considered as siblings. The high CH incidence observed in twins is worthy of interest for the high number of induced pregnancies in Italy as well as in other Western countries. Moreover, the low concordance rate for CH among twins together with a high recurrence risk for the disease among siblings indicates that environmental risk factors may act as a trigger on a susceptible genetic background in the etiology of the disease.

A Population-Based Study of Cancer Incidence in Solid Organ Transplants From Donors at Various Risk of Neoplasia

A population-based cohort study of recipients of organs from donors with a recognized history or active cancer has been conducted by linking the Italian National Registry of Transplanted Patients and the National Registry of Donors with Neoplasia Risk. Between 2002 and 2004, 8,198 solid organ transplants have been performed in Italy, 108 of them with organs from 59 cadaveric donors with various risk of neoplasia. There were two reported cases of nonmelanoma skin cancer during the follow up of the transplanted patients, which lasted 27.6+/-11.3 months (234 patient-years). In our study, recipients of organs from donors with various degree of neoplasia risk are exposed to a low risk of cancer transmission.

A91V perforin variation in healthy subjects and FHLH patients

Familial haemophagocytic lymphohistiocytosis (FHLH) is a heterogeneous autosomal recessive disorder characterized by hyperactivation of monocytes/macrophages. Perforin (PRF1) gene alterations have been documented in 40% of patients with FHLH. Although several mutations have been identified, a clear correlation between the individual molecular alteration and the phenotypic expression of the disease is still unclear. In particular, the role that the A91V substitution plays in the pathogenesis of the disease is still controversial. In the effort to make a conclusive remark to this issue, we here report on the frequency of the A91V mutation in a group of unrelated healthy families obtained from the "Centre d'Etude du Polymorphisme Humain" (CEPH), which are considered representative of the worldwide population. This frequency was compared to that observed in FHLH patients recruited through the Italian National Registry. The frequency in CEPH healthy subjects is 3.7%, thus indicating that the alteration represents a polymorphism. However, the frequency of this alteration in FHLH patients associated with PRF1 mutation is much higher than that observed in controls (26.2%, P = 0.0002), suggesting that the alteration is an important genetic susceptibility factor.

Incidence of AIDS-defining cancers after AIDS diagnosis among people with AIDS in Italy, 1986-1998.

A record linkage was carried out between the Italian National Registry of AIDS and 19 cancer registries. The aim was to evaluate the 1986 through 1998 trends in incidence rate (IR) of AIDS-defining cancers (ADCs) among persons with AIDS (PWA) in Italy overall and according to various characteristics. A steady decrease in IRs was found for Kaposi sarcoma (KS) in men between 1986-1992 (2.5 per 100 person-years [py]) and 1997-1998 (1.0 per 100 py). Conversely, the first decrease in IRs of KS in women (from 0.9 to 0.6 per 100 py) and of non-Hodgkin lymphoma in both genders (from 1.7 to 0.7 per 100 py) was seen between 1993-1996 and 1997-1998, thus pointing to a favorable impact of highly active antiretroviral therapies. The decline was consistent across different age and HIV transmission groups, but it was more marked in PWA with a CD4 count >50 cells/microL than in PWA with more severe immune suppression. As a proportion of AIDS cases, invasive cervical cancer increased from 1.5% in 1993-1996 to 2.4% in 1997-1998, but IRs after AIDS could not be evaluated. On account of the marked decline of KS in men in 1997-1998, the overall burden of ADCs in Italy became similar in both genders.

The Italian national registry of coronary care units: initial results from an internet based, patient-care oriented data management tool

The Italian national registry of coronary care units: initial results from an internet based, patient-care oriented data management tool

A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998).

In the last decade a high frequency of other congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. In the present study the occurrence of additional congenital malformations (CM) in the population of CH infants detected in Italy between 1991 and 1998 (n = 1420) was investigated. In Italy all of the centers in charge of screening, treatment, and follow-up of CH adhere to the Italian National Registry of infants with CH. In this study a high prevalence of additional CM (8.4%), more than 4-fold higher than that reported in the Italian population (1-2%), was found in the population of CH infants. Cardiac anomalies represented the most frequent malformations associated with CH, with a prevalence of 5.5%. However, a significant association between CH and anomalies of nervous system, eyes, and multiple CM was also observed. In conclusion, the significantly higher frequency of extrathyroidal congenital malformations reported in the CH infants than in the general population represents a further argument supporting the role of a genetic component in the etiology of CH. Investigations of the molecular mechanisms underlying developmental events of formation of thyroid and other organs represent critical steps in the knowledge of CH etiology.

A Fast Amplification-Reverse Hybridization Assay Kit to Detect the Most Frequent Deficient Variants in the Alpha-1-Antitrypsin Gene

Background: There is worldwide growing awareness of alpha-1-antitrypsin deficiency (AATD), a major hereditary disorder in Caucasians. The gold standard for its laboratory diagnosis is thin-layer isoelectric focusing, which should be performed in reference laboratories. Objectives: The aim of this study was to check the characteristics of a commercially available amplification-reverse hybridization assay kit in detecting at a molecular level the alpha-1-antitrypsin (AAT) Z and S variants, i.e. the most frequent variants associated with AATD, by comparing its performance with DNA restriction fragment length polymorphism. Methods: We studied samples from 36 subjects enrolled in the Italian National Registry for Severe Alpha-1-antitrypsin Deficiency. Based on previous plasma isoelectric focusing typing, we selected samples with the following phenotypes: MM (9 samples), MS (9 samples), SZ (3 samples), MZ (11 samples), ZZ (3 samples), and a rare variant (1 sample). DNA was extracted by the standard method. The presence of the AAT Z and S gene variants was determined by the amplification-reverse hybridization test kit, following the manufacturer’s instructions, and by the restriction fragment length polymorphism technique, according to established procedures. Results: We found that the identification of the AAT Z and S gene variants obtained by the amplification-reverse hybridization test kit was completely in agreement with that obtained by the restriction fragment length polymorphism technique. Conclusions: We conclude that the test kit provides a fast, easy and unambiguous identification of Z and S alleles. Because of its transferability to routine laboratories, the test kit may be useful in identifying cases of severe AATD, thus resulting in increasing awareness of this rare disorder.