life expectancy in italian patients with hereditary angioedema due to c1 inhibitor deficiency

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The impact of puberty on the onset, frequency, location, and severity of attacks in hereditary angioedema due to C1-inhibitor deficiency: A survey from the Italian Network for Hereditary and Acquired Angioedema (ITACA)

IntroductionHereditary angioedema due to C1-inhibitor deficiency is influenced by hormonal factors, with a more severe course of disease in women. Our study aims to deepen the impact of puberty on onset, frequency, location and severity of attacks.MethodsRetrospective data were collected through a semi-structured questionnaire and shared by 10 Italian reference centers of the Italian Network for Hereditary and Acquired Angioedema (ITACA).ResultsThe proportion of symptomatic patients increased significantly after puberty (98.2% vs 83.9%, p=0.002 in males; 96.3% vs 68,4%, p<0.001 in females); the monthly mean of acute attacks was significantly higher after puberty, and this occurred both in females (median (IQR) = 0.41(2) in the three years before puberty vs 2(2.17) in the three years after, p<0.001) and in males (1(1.92) vs 1.25(1.56) respectively, p<0.001). The increase was greater in females. No significant differences were detected in attack location before and after puberty.DiscussionOverall, our study confirms previous reports on a more severe phenotype in the female gender. Puberty predisposes to increased numbers of angioedema attacks, in particular in female patients

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

No abstract available

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

No abstract available

Thyroid cancer and inflammation.

Some cancer types are strongly associated with chronic inflammatory or infectious diseases whereas others are not, but an inflammatory component is present in most human neoplastic lesions. This review focuses on various aspects of thyroid cancer and inflammation. The incidence of thyroid cancer, in particular of well-differentiated papillary thyroid carcinomas (PTCs), is increased in autoimmune thyroid diseases such as Hashimoto's thyroiditis. Thyroid cancer often has an inflammatory cell infiltrate, which includes lymphocytes, macrophages, dendritic cells and mast cells, whose role in thyroid cancer is still not completely understood. However, most experimental evidence suggests these cells exert a pro-tumorigenic function. Moreover, oncoproteins typically expressed in human PTCs, such as RET/PTC, RAS, and BRAF, trigger a pro-inflammatory programme in thyreocytes. These data suggest that inflammatory molecules are promising targets for thyroid cancer therapy

Fillers and biocompatibility: Lack of human complement activating capacity

[No abstract available

The role of the meaning-making process in the management of hereditary angioedema

The first descriptions of hereditary angioedema (HAE), in the early 1500’s, ascribed it to “neuroticism.” However, HAE is a rare autosomal dominant disease that causes swelling of the skin and mucosal tissues, but that varies greatly in terms of localization, frequency, and intensity both within and between individuals. Although the identification of a genetic origin dates to 1963, psychological stress is still one of the most reported triggers, often being cited in the conclusions of research and clinical reports. Despite this widespread assumption, the role of stress in HAE has never been analyzed in depth. In this chapter, the authors present their reflections on the results of the qualitative component of a broader mixed-method research on the interaction between stress and emotion regulation in the variability of clinical presentation of HAE. The role of psychology is discussed—as brought into play by the request of the medical team—in terms of research and intervention for HAE in medical contexts. They start with the results from a semantic and semiotic analysis of an ad-hoc semi-structured interview of the parents of young patients on the variability of the disease. This reliance on “lay experts” allows for a broader understanding of the phenotypic variability of HAE, as well as of the relational contexts of patients, including the relationship between the family, patient, and doctor. They conclude by highlighting the importance of shared meaning-making processes when seeking to influence strategies for the management of the disease

GM-CSF and pregnancy: Evidence of significantly reduced blood concentrations in unexplained recurrent abortion efficiently reverted by intravenous immunoglobulin treatment

PROBLEM: Certain Th-2 cytokines and granulocyte-macrophage colony-stimulating factor (GM-CSF) are propitious for the success of pregnancy and recurrent spontaneous abortion (RSA) is often characterized by a failure of Th-2 type responses. These considerations as well as the use of intravenous immunoglobulin (IVIg) in RSA induced us to evaluate the levels of GM-CSF in normal pregnancies, in pregnant women affected with unexplained RSA and the effects of IVIg treatment. METHOD OF STUDY: Peripheral blood free GM-CSF was measured by means of a sandwich enzyme immunoassay in 39 healthy women (13 non-pregnant, 26 pregnant) and in 53 RSA patients (11 non-pregnant, 42 pregnant). In 14 pregnant RSA patients GM-CSF was studied also after the very first IVIg infusion (0.5 g/kg body weight). RESULTS: In healthy women we found a significant increase of GM-CSF during pregnancy, in pregnant RSA patients such an increase was not detected. After IVIg, GM-CSF concentrations were almost doubled. CONCLUSIONS: GM-CSF is found increased in normal pregnancy and is very low during pregnancy in RSA. IVIg infusions are capable of increasing GM-CSF in pregnant recurrent aborters

Recurrent Angioedema: Occurrence, Features, and Concomitant Diseases in an Italian Single-Center Study

Background: Angioedema (AE) is a potentially life-threatening condition with hereditary (HAE), acquired (AAE), or iatrogenic causes. A careful workup allows for the identification of the etiology of attacks and the appropriate management. In this cohort study, based on a clinical practice setting, we aimed at investigating clinical and laboratory findings concerning different features of patients with recurrent AE who were referred to a single, tertiary-level center for HAE. Methods: Clinical and laboratory data of patients fulfilling the criteria for C1-inhibitor-deficient HAE (C1-INH-HAE), C1-INH-AAE, angiotensin-converting enzyme inhibitor-related AE (ACEI-RA), and idiopathic AAE (I-AAE) were evaluated. Descriptive statistics were analyzed by means of the Mann-Whitney U test. The Fisher exact test was used for group comparisons. Results: Patients were diagnosed with type 1 HAE (n = 14), type 2 HAE (n = 1), C1-INH-AAE (n = 8), ACEI-RA (n = 16), or I-AAE (n = 26). We included only patients with concomitant autoimmune diseases from the I-AAE group (n = 8, aut-I-AAE). Age at disease onset and at diagnosis was younger in type 1 HAE than in all the other groups. The diagnostic delay was longer in type 1 HAE than in ACEI-RA. C4 and C1q levels were lower in C1-INH-AAE than in type 1 HAE, ACEI-RA, and aut-I-AAE. Both HAE and C1-INH-AAE showed lower C1-INH antigen and function compared to the other groups. Peripheral attacks were more frequent in type 1 HAE, while airway, abdominal, and oral attacks were prevalent in C1-INH-AAE. Conclusion: Investigating the clinical and laboratory features of recurrent AE without wheals represents a major topic for facilitating early diagnosis and improving treatment strategies for this heterogeneous and misdiagnosed condition

Use of anti-tumor necrosis factor alpha therapy in patients with concurrent rheumatoid arthritis and hepatitis B or hepatitis C: a retrospective analysis of 32 patients

The safety of tumor necrosis factor-alpha (TNF-α) inhibitors in the setting of hepatitis B virus (HBV) and hepatitis C virus (HCV) infections is controversial. The use of anti-TNF-α in rheumatoid arthritis (RA) is associated with an increased risk of hepatitis re-activation. This paper reports experience of using etanercept and adalimumab in 32 patients with RA and previous HBV or HCV infection. No cases of HBV or HCV reactivation were seen. In just over a fifth of patients, increased transaminases levels were seen, which were associated with concomitant use of disease-modifying antirheumatic drugs, isoniazid prophylaxis, or alcohol abuse. In our experience, anti-TNF-α therapy appears to be safe in RA patients with previous HBV or HCV infection, but monitoring remains necessary in these patients