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).

Introduction: Hereditary 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. Methods: Retrospective 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). Results: The 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. Discussion: Overall, 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.

Subclinical Signs of Retinal Involvement in Hereditary Angioedema.

To explore retinal abnormalities using spectral domain optical coherence tomography (SD-OCT) and OCT-angiography (OCT-A) in a highly selective cohort of patients with type I hereditary angioedema (HAE). This prospective case-control study included 40 type I HAE patients and 40 age-/sex-matched healthy subjects (HC). All participants underwent SD-OCT-scanning of retinal posterior pole (PP), peripapillary retinal nerve fiber layer (pRNFL), and optic nerve head (ONH). Superficial/deep capillary density was analyzed by OCT-A. A total of 80 eyes from 40 HAE and 40 eyes from HC were evaluated. The pRNFL was thicker in HAE than in HC in nasal superior (p < 0.0001) and temporal quadrants (p = 0.0005 left, p = 0.003 right). The ONH thickness in HAE patients was greater than in HC in the nasal (p = 0.008 left, p = 0.01 right), temporal (p = 0.0005 left, p = 0.003 right), temporal inferior (p = 0.007 left, p = 0.0008 right), and global (p = 0.005 left, p = 0.007 right) scans. Compared to HC, HAE showed a lower capillary density in both superficial (p = 0.001 left, p = 0.006 right) and deep (p = 0.008 left, p = 0.004 right) whole images, and superficial (p = 0.03 left) and deep parafoveal (p = 0.007 left, p = 0.005 right) areas. Our findings documented subclinical retinal abnormalities in type I HAE, supporting a potential role of the retinal assessment by SD-OCT/OCT-A as a useful tool in the comprehensive care of HAE patients.

Combined Low-Level Light Therapy and Intense Pulsed Light Therapy for the Treatment of Dry Eye in Patients with Sjögren's Syndrome.

PURPOSE: To evaluate the effects of combined intense pulsed light therapy (IPL) and low-level light therapy (LLLT) in dry eye disease (DED) in patients affected by Sjögren's syndrome. Patients and Methods. This is a monocentric, prospective, interventional study. At baseline, all the study patients (n = 20) were on tear substitute therapy and underwent Schirmer type-1 test and breakup time (BUT) test. After baseline measurements, tear substitute therapy was suspended, and patients underwent IPL and LLLT. The same investigations were carried out at one (T1) and at three (T3) months after treatment. The Ocular Surface Disease Index (OSDI) survey was used to measure the severity of DED. RESULTS: BUT test showed an increase in tear film breakup time in patients with DED 1 month after the beginning of the treatment (T0 vs T1: p=0,01). This increase was even more statistically significant after 3 months of the IPL and LLLT treatment (T0 vs T3: p < 0.0001). Schirmer test values increased too, but there was not statistically significance between values at T0 and T1 or T3. The patients perceived an improvement in their condition, which resulted in a lower score on the OSDI survey. The OSDI score was lower at T1 than T0 (T0 vs T1: p=0.0003), while it tended to increase again after 3 months although it was still lower than baseline (T0 vs T3: p=0.02). No facial or ocular side effects were reported. CONCLUSIONS: The use of combined IPL/LLLT for the treatment of DED in patients affected by Sjögren's syndrome appears to be beneficial.

Omalizumab and adalimumab: a winning couple.

Introduction: We report a case of a young female patient, previously affected by psoriatic arthritis, and treated with adalimumab, who developed a chronic spontaneous urticaria and started a concomitant therapy with omalizumab. Methods & results: A 50% reduction of the Dermatology Life Quality Index (from 7 at baseline to 4 in weeks 12 and 24) and a complete reset of the Urticaria Activity Score for 7 days (from 27 at baseline to 0 in weeks 12 and 24) were recorded. During all treatment with omalizumab, administering of adalimumab was continued. Due to complete control of urticaria symptoms, the patient stopped treatment with omalizumab after 24 weeks. Conclusion: The combination of adalimumab and omalizumab could offer a favorable efficacy and safety profile. The synergistic action of the two biological drugs in reducing systemic inflammation could be responsible for a shorter time to obtain clinical response.

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.

Cancer of the sigmoid colon and antibodies. A puzzle.

UNLABELLED: In this work we describe the case report of a woman affected by cancer of the sigmoid colon and with a positive direct antiglobulin test (DAT) and indirect antiglobulin test (IAT). Case report with results: A meticulous medical history showed that the woman had been suffering from recurrent fetal loss. Then she had cardiac and coagulative problems. These data suggested a phospholipid syndrome. CONCLUSION: The patient had a medical history positive for a phospholipid syndrome and we think that this disease could explain the onset of the autoantibody.