Loss of opportunities in the diagnosis and treatment of primary obstetric antiphospholipid syndrome (POAPS): from theory to reality.

OBJECTIVES: (I) To identify and measure the clinical consequences of a delayed diagnosis in patients with primary obstetric antiphospholipid syndrome (POAPS), in terms of time and events associated to antiphospholipid syndrome (APS), and (II) to evaluate the impact of their treatment status on perinatal outcomes, before and after diagnosis. METHODS: This retrospective multicentre study included 99 POAPS women who were separated in two groups of timelines based on their diagnostic status: group 1: women who met the clinical criteria for POAPS; group 2: included the same patients from group 1 since they meet the laboratory criteria for APS. In group 1, we assessed the following variables: obstetric events, thrombotic events and time (years) to diagnosis of APS. We also compared perinatal outcomes between patients in group 1 vs. group 2. Women in group 2 were treated with standard of care for POAPS. Simple and multivariable logistic regression analyses were performed. RESULTS: Regarding the impact of the delay on diagnosis, a total of 87 APS-related events were recorded: 46 miscarriages, 32 foetal losses and 9 premature deliveries before the 34th week due to preeclampsia, and one thrombosis. The estimated rate of preventable events was 20.58 per year/100 patients. The mean diagnostic delay time was 4.27 years. When we compared both groups during pregnancy, we found that patients in group 1 (no treatment) had a higher association with pregnancy losses [OR = 6.71 (95% CI: 3.59-12.55), p < 0.0001]. CONCLUSION: Our findings emphasize the negative impact of POAPS underdiagnosis on patient health and the critical importance of a timely intervention to improve pregnancy outcomes. Key Points •Our study shows the relevance of underdiagnosis on primary obstetric antiphospholipid syndrome (POAPS). •These patients presented a high risk of APS-related events with each passing year. •Shorter diagnostic delay time was observed in the reference centres.

[Hereditary angioedema. Family history and clinical manifestations in 58 patients]. / Angioedema hereditario. Historia familiar y manifestaciones clínicas en 58 pacientes.

Hereditary angioedema (HAE) is a rare autosomal dominant disease, characterized by episodes of edema typically involving the skin, gastrointestinal tract and larynx. We here describe the epidemiologic and clinical characteristic of a series of 58 patients with diagnosis of HAE, 53 (91%) type I and 5 (9%) type II. The mean age at first symptom was 10.8 +/- 9.5 years and the mean age at diagnosis was 25.8 +/- 16.2 years old, with a diagnosis delay of 15.3 +/- 14.3 years. The mean number of attacks in the previous 6 months was 7.4 +/- 7.6 range 0 to 40. Fifty four (93%) had cutaneous attacks, 50 (86%) abdominal attacks, 24 (41%) laryngeal attacks and 24 (41%) combined cutaneous and abdominal attacks. Twenty seven (46.5%) patients never received preventive treatments and 17 (29%) received danazol in different doses for different periods of time. During the attacks, 15 (26%) patients were treated with C1 inhibitor at least once, 7 (12%) with fresh frozen plasma and 40 (69%) received only supportive treatment. Stress and trauma were identified as attacks triggers. Six (10%) patients were first mutation and 52 (90%) had HAE ancestors. We reconstructed 20 kindred, identifying 205 individuals at risk of inheriting the disease, 109 (53 %) of them had signs or laboratory diagnosis of HAE. The total number of identified HAE individuals was 145, 19 (13%) died with asphyxia. So, shortening of diagnosis delay and appropriate treatment of HAE are a challenge to be fulfilled.