Introduction:
Bernard soulier syndrome BSS is rare hereditary autosomal recessive functional platelet disorder with estimated prevalence of one in million. The main defect in BSS is lack of platelet surface receptor glycoprotein GP Ib- IX- V complex. The GP Ib- IX -V is a receptor for von Willebrand factor (vWF) which facilitates aggregation and adhesion of platelet in hemostasis. Clinical presentation is characterized by mucocutaneus bleeding thrombocytopenia and giant platelets on smear. Diagnosis is confirmed by showing absence of platelet aggregation in response of ristocetine. We report a case of BSS who developed end stage kidney disease due to glomerulonephritis and required chronic maintenances hemodialysis. This is being reported for its rarity for challenges in maintenance hemodialysis, surgery in patient with bleeding disorder due to BSS.
Methods:
Case History: Female child was asymptomatic till age of 5 years, normal physical and mental milestones. At age of 5 years child had severe epistaxis requiring nasal packing and blood transfusion. Laboratory evaluation showed platelet count 60,000/cumm with giant platelet on smear. She had normal prothrombin and partial thromboplastin time. Bone marrow showed increase megakaryocytes. Platelet studies showed large morphology, normal adhesion, clot retraction complete. Functional studies showed impaired aggregation with ristocetin which is charactered of BSS.At age of 21 years patient developed edema feet puffiness of face, had proteinuria 3.7g/day with albumin of 2.6 G/dl, Sr cholesterol 320 mg/dl, triglyceride of 260 mg/dl and Sr creatinine of 1.7 mg/dl. Diagnosis of non-proliferative primary nephrotic syndrome done. Kidney biopsy was not done due to platelet disorder. Patient received steroid, cyclophosphamide and tacrolimus with no response.
Results:
She progressed to ESKD over 4 to 5 years. Patient presented to us with fluid overload requiring emergency dialysis. Patients’ platelet count was 20000/cumm Sr creatinine was 12 mg/dl. Patient was given single donor platelet transfusion, desmopressin intranasally and tranexamic acid 500 mg as per hematology protocol for invasive procedures in patients with platelet disorder.Femoral non tunnel catheter was inserted successfully. Patient was stabilized, subsequently tunnel cuff catheter was inserted with same preparation. No vascular surgeon was willing to take the risk of constructing AV fistula. Patient is on chronic maintenance hemodialysis 3 times week for 5 years. She had catheter dysfunction -poor flow due to fibrin sheathe requiring change of tunnel catheter thrice.Patient also underwent major spinal decompression surgery with same protocol as catheter insertion.
Protocol for catheter insertion and surgical procedure:
· PT, PTT, TEG monitoring
· Platelet infusion to maintain platelet above 50k
· Intra nasal desmopressin
· Tranexamic acid
· Factor VII a whenever required.
Conclusions:
Selecting mode of kidney replacement therapy (KRT) was challenging in BSS. No surgeon was willing for peritoneal dialysis catheter insertion or AV fistula creation. There was risk of uncontrolled bleeding with each cannulation of AV fistula, finally tunnel Catheter insertion under platelet transfusion, desmopressin and tranexamic acid administrationmade it possible to keep patient on MHD for 5 years with good quality of life. Search of literature did reveal BSS managed on hemodialysis.
I have no potential conflict of interest to disclose.
I did not use generative AI and AI-assisted technologies in the writing process.