Unusual Comorbid Conditions and Management of Two Siblings with Severe Factor XI Deficiencies: Spina Bifida and Legg-Calvé-Perthes
18th Annual Congress of the European Association for Haemophilia and Allied Disorders (EAHAD 2025), Milan, İtalya, 4 - 07 Şubat 2025, cilt.31, sa.11, ss.203, (Özet Bildiri)
- Yayın Türü: Bildiri / Özet Bildiri
- Cilt numarası: 31
- Doi Numarası: 10.1111/hae.15148
- Basıldığı Şehir: Milan
- Basıldığı Ülke: İtalya
- Sayfa Sayıları: ss.203
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Gazi Üniversitesi Adresli: Evet
Özet
Introduction: Factor XI (FXI) deficiency is a rare coagulation factor disease. Coexisting Noonan syndrome, Prader–Willi syndrome and multiple nipple abnormalities have been documented in a few FXI-deficient patients. We present for the first time in two siblings with severe FXI deficiency with concomitant diseases, one with spina bifida and the other with Legg–Calvé–Perthes disease. Methods: Both siblings were diagnosed with severe FXI deficiency, which was determined by measuring both activated partial thromboplastin time (APTT) and FXI levels. Their APTT was prolonged at 110 and 105 s (normal range: 16–32 s). They had Factor XI levels of 0.1% and 0.3% (normal range 50%–150%), indicating severe FXI deficiency. Genetic tests were performed. Spina bifida was diagnosed using spinal magnetic resonance imaging (MRI). Legg–Calvé–Perthes was also diagnosed using a pelvic MRI. Results: In the first case, a 7-year-old girl with a history of tethered cord, spina bifida and neurogenic bladder since birth (Panel A), but no prior history of pathological bleeding, was diagnosed with severe Factor XI deficiency by chance when she was assessed for a planned urological surgical procedure at Age 3. She underwent successful surgery with fresh frozen plasma. She was now treating enuresis with oxybutynin hydrochloride and emptying his bladder every 6 h with a clean intermittent catheter. In the second case, a 15-year-old brother was referred to the orthopaedic department after complaining of serious back and hip pain and limping. A pelvic MRI showed bilateral avascular necrosis in the femoral heads (Panel B). There were no aetiological causes found. Pain was treated using muscular strengthening exercises, hyperbaric oxygen therapy, iloprost medicine and alendronate. Hyperbaric oxygen therapy decreased pain severity slightly, whereas iloprost medication and alendronate reduced it dramatically. Familial screening revealed that both siblings have homozygous mutations in the FXI gene (c.1566G > A; p.Trp519Ter). Discussion/Conclusion: For the first time, two siblings with severe FXI deficiency–one with Spina bifida and the other with Legg–Calvé–Perthes disease–were highlighted for their unusual comorbidities and treatment options.