Diagnosis & Disease Information

Pregnancy Black Woman

Pregnancy in Women With Severe PAH Carries Risk of Neonatal Complications

A new study has found an increased risk of adverse neonatal events in pregnant women with severe pulmonary arterial hypertension (PAH). The study, published in Pediatrics & Neonatology, compared birth outcomes in pregnant women with heart disease without PAH, with mild PAH, and with severe PAH. “Current data as to whether neonatal outcomes in pregnant…

NICU infant

Infant With Aggressive SM Successfully Treated With Midostaurin

Researchers presented a case study of an African American female who was born at 38 weeks and later diagnosed with aggressive systemic mastocytosis (SM). The mother’s pregnancy was complicated by intrauterine growth restriction and a breech presentation that led to a Cesarean delivery. The presence of aggressive (SM) in utero is a rare finding, manifesting…

pregnant woman with mask

New Case Reports Examine Confluence of HAE and COVID-19 in Pregnant Women

An infection with SARS-CoV-2 may not cause any adverse fetal outcomes in unvaccinated pregnant women with hereditary angioedema (HAE) if they are given prompt treatment, according to a recent article presenting 2 case reports published in The Journal of Allergy and Clinical Immunology: In Practice. The first patient was a 20-year-old Hispanic female at 22…

Pregnancy Black Woman

New Study to Assess Enzyme Replacement Therapy in Fetuses With LSDs

Duke University, Durham, North Carolina, and the University of California, San Francisco are launching a new study to evaluate the maternal and fetal safety of in utero enzyme replacement therapy (ERT) in fetuses with lysosomal acid lipase deficiency (LAL-D) and other lysosomal storage diseases (LSDs). LAL-D is a rare genetic autosomal recessive disorder of metabolism…

Doctor looking at a pill

New Data Support the Efficacy of PHVS416 for HAE Attacks

Pharvaris announced promising results from the RAPIDe-1 phase 2 clinical study of PHVS416 as an oral on-demand treatment for hereditary angioedema (HAE) attacks in patients with type 1 or 2 HAE. RAPIDe-1 phase 2 is designed as a double-blind, placebo-controlled, randomized, crossover, dose-ranging study meant to compare symptom relief during HAE attacks and the safety…

Happy family with doctor

Donidalorsen Shows Safety and Sustained Reduced HAE Attack Rates

A phase 2 extension study has confirmed prior study results demonstrating a sustained 90% reduction in the rate of hereditary angioedema (HAE) attacks with donidalorsen treatment as well as a lower adverse event rate than placebo with the therapy. The study was published in the Annals of Allergy, Asthma, & Immunology. “Results of this study…

Urine sample

New Metabolic Clues Found in Pathogenesis of HAE

According to an article published in the journal Metabolites, the urine of patients with hereditary angioedema (HAE) might contain a distinctive set of metabolites involved in purine metabolism, riboflavin metabolism, and the tricarboxylic acid cycle, which may be involved in the pathogenesis of HAE. The study authors recruited 34 drug-naive patients with HAE and 82…

Pregnancy Black Woman

AIHA During Pregnancy Often Associated With Maternal and Fetal Complications

A new study has found that the development or reactivation of autoimmune hemolytic anemia (AIHA), of which cold agglutinin disease (CAD) is a form, during pregnancy is rare but potentially serious. The study, published in Blood, noted that severe complications (maternal and fetal) occurred in up to 25% of cases with active hemolysis. “AIHA management…

Child in hospital

Case Report: A Pediatric Case of Autosomal Dominant HAE

A new case has been reported of a child determined to have a new deleterious serine protease inhibitor 1 (SERPING1) gene variant, ultimately leading to hereditary angioedema (HAE). The case, published in the Annals of Allergy, Asthma, & Immunology, had a successful outcome with prophylactic plasma-derived concentrate of C1 esterase inhibitor. “Type I hereditary angioedema…

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