PO0031 - Challenges in managing of care in a child with non-severe haemophilia B

Wednesday, July 13, 2022

1:00 PM – 2:00 PM

Location: ExCel Center, ICC Capital Suite Room 1

Presenting Author(s)

CU

Cristina Emilia Ursu

MD, PhD
Romanian Academy of Medical Sciences, Onco-Hematology Research Unit, Children Emergency Hospital "Louis Turcanu", European Haemophilia Treatment Center, Timisoara, Romania
Timisoara, Timis, Romania

Co-Author(s)

MS

Margit Serban

Professor Doctor
Romanian Academy of Medical Sciences, Onco-Hematology Research Unit, Children Emergency Hospital "Louis Turcanu", European Haemophilia Treatment Center, Timisoara, Romania
Timisoara, Timis, Romania
CV

Costel Vlad

Chief Physician
Pediatric Orthopedic Department, Children's Clinical Hospital ʺDoctor Victor Gomoiuʺ Bucharest
Bucharest, Bucuresti, Romania
AT

Adina Traila

MD
Medical Centre for Evaluation Therapy, Medical Education and Rehabilitation of Children and Young Adults, European Hemophilia Treatment Centre, Buzias, Romania
Buzias, Timis, Romania
EB

Estera Boeriu

MD, PhD
Department of Pediatrics, Division of Onco-Hematology, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania
Timisoara, Timis, Romania
CJ

Cristian Jinca

MD, PhD
Department of Pediatrics, Division of Onco-Hematology, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania
Timisoara, Timis, Romania
EB

Eugen Boia

Professor Doctor
Department of Pediatric Surgery, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania
Timisoara, Timis, Romania
MN

Marius Negru

MD, PhD student
Department of Pediatric Surgery, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania
Timisoara, Timis, Romania
TA

Teodora Smaranda Arghirescu, MD, PhD

Assoc. Prof.,
Department of Pediatrics, Division of Onco-Hematology, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania
Timisoara, Timis, Romania

Background: Non-severe haemophilia (NSH) is a possible subject of delayed, under-or misdiagnosis, which can sometimes develop challenging dangerous events with risky outcomes.

Aims: Our present objective is to give some insights into the challenging NSH field, presenting an evocative case, with a real diagnostic pitfall and unexpected outcome.

Methods: Case presentation.

Results: A 5-year-old male patient, with no personal history of bleedings or family history of haemophilia, was incidentally diagnosed with moderate hemophilia B due to a post-traumatic hepatic injury with intraabdominal bleeding and severe anemia. Surgical hepatic capsular suture, plasma-derived FIX (pdFIX) replacement, and blood transfusion assured a good clinical evolution. After two years of bleeding-free time, the patient is addressed to our clinic for a spontaneously occurred limp, mild pain localized to the right hip joint, described as radiating to the inguinal area and with limited motion. Ultrasonography excluded the presence of haemarthrosis, but the native pelvic MRI revealed idiopathic avascular necrosis changes of the right femoral head, with incomplete subchondral linear fracture. After ~12 months of continuous pdFIX prophylaxis and immobilization, the clinical and radiological evolution was unfavorable, with the involvement of more than 50% of the right proximal femoral epiphysis. This challenging worse evolution urged a surgical decision for that challenging Perthes disease. Under prophylactic treatment with an extended half-life (EHL) FIX product, a right proximal femoral varus osteotomy with a triple pelvic osteotomy for femoral head coverage and containment was undertaken. The evolution was slowly favorable, under a rigorous rehabilitation program with physical therapy and prophylactic EHL-FIX replacement.

Conclusion(s): This case with challenging late diagnosis, challenging rare complication, challenging unfavorable evolution, requiring a challenging surgical solution highlighted the importance of a comprehensive approach, in order to avoid unpredictable diagnosis and subsequent risks.