Challenges in the Diagnosis and Management of Non-Severe Hemophilia.
Estera BoeriuTeodora Smaranda ArghirescuMargit SerbanJenel Marian PatrascuEugen BoiaCristian JincaWolfgang SchrammAdina TrailaCristina Emilia UrsuPublished in: Journal of clinical medicine (2022)
(1) Background: Mild and moderate hemophilia, synonymous with non-severe hemophilia (NSH), are of constant interest for the clinicians. Bleeding occurs usually after trauma, injury, surgery, or inhibitor development, sometimes leading to a shift of the clinical phenotype from mild to severe, even with life-threatening and unexpected outcomes. (2) Methods: We performed a retrospective observational study conducted on 112 persons with congenital coagulopathies, 26 of them with NSH, admitted to our clinic in the period 2000 to 2022. For the diagnosis, we used laboratory studies (complete blood cell count, coagulation assays, biochemistry, thromboelastography, genetic tests) and imaging investigations (X-ray, ultrasound, CT, MRI). We selected four cases confronted with pitfalls of diagnosis and evolution in order to illustrate the sometimes provocative field of NSH. (3) Results: Confronted with challenging cases with under-, missed or delayed diagnosis and severe consequences, we aimed at presenting four such selected cases with mild or moderate hemophilia, real pitfalls in our clinical activity. (4) Conclusions: In the field of NSH, if not timely recognized, tending sometimes to remain ignored by caregivers and patients themselves, we can be confronted with challenging diagnostic situations and life-threatening bleeds.
Keyphrases
- early onset
- magnetic resonance imaging
- high resolution
- end stage renal disease
- palliative care
- ejection fraction
- computed tomography
- primary care
- chronic kidney disease
- type diabetes
- newly diagnosed
- high intensity
- dual energy
- drug induced
- coronary artery disease
- dna methylation
- coronary artery bypass
- high throughput
- skeletal muscle
- atrial fibrillation
- photodynamic therapy
- metabolic syndrome
- percutaneous coronary intervention
- acute coronary syndrome
- adipose tissue
- positron emission tomography
- glycemic control
- case report
- image quality
- fluorescence imaging
- weight loss
- trauma patients