NDT Advance Access originally published online on November 6, 2007
Nephrology Dialysis Transplantation 2008 23(1):424-425; doi:10.1093/ndt/gfm556
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Haemodialysis in a patient with haemophilia B
E-mail: mariok{at}tlen.pl
Sir,
I would like to raise a problem of preparation for haemodialysis (HD) in patients with a mild type of haemophilia B. Chronic renal failure is a very rare condition in haemophiliacs and/or individuals with other hereditary clotting disorders and the dialysis modality for these patients may be a difficult choice.
A 53-year-old man with haemophilia B, mild hypertension, hepatitis C virus infection (anti-HCV positive) developed end-stage renal disease (ESRD), most probably due to chronic glomerulonephritis. Preparation for HD was undertaken in accordance with the patient's choice (HD or PD) at an eGFR of 12 ml/min/1.73 m2. Laboratory data showed a prolonged activated partial thromboplastin time (aPTT) of 82 s and factor IX activity of 8.6% (mild type of haemophilia B). All other coagulation factor levels were normal. It is worthy of note that the patient was admitted to our clinic with a diagnosis of severe haemophilia B, based on a factor IX activity of 0.1%, assessed 24 years previously.
To create the vascular access, intensive treatment with coagulation factor IX was given to achieve the target level (35–40%) for small surgical procedures. The calculated dose was administered, as recommended, intravenously 1 h before creation of the fistula and then every 12 h for two consecutive days. The successfully created wrist arteriovenous fistula was complicated by a small haematoma. Twenty days after fistula creation, the patient started HD using a small-size (17 G) single needle without systemic/local anticoagulation. Two-needle dialysis was introduced 4 weeks after fistula placement. During the 6 months of follow-up, no bleeding episodes after needle removal and no clotting in dialyzers or drains were observed. There was no need for factor IX substitution during and after the dialysis sessions.
The modality of dialysis in patients with hereditary clotting disorders is a difficult choice. When considering haemodialysis, intensive treatment with coagulation factors is crucial for vascular access creation and in some severe cases for the HD procedure as well. Peritoneal dialysis has been performed infrequently in haemophiliacs. The clinical results of PD treatment may fluctuate between an uncomplicated course, when coagulation replacement therapy is required only during peritoneal catheter placement, and rather serious complications such as haemoperitoneum episodes [1].
An important issue in the preparation for renal replacement therapy is the evaluation of factor IX activity. In our patient we noticed an increase in factor IX activity within 24 years (from 0.1 to 8.6%), which resulted in a lower dose of substituted factor IX prior to the surgical procedure. In recent publications, factor IX, a circulating serine protease, has been shown to increase with age in humans [2]. Kurachi et al. [3] investigated the mechanisms of the age regulation of the human factor IX gene. They identified two genetic elements: an age-related stability element (ASE, GAGGAAG) and an age-related increase element (AIE, a unique stretch of dinucleotide repeats), which were responsible for age-related stable and increasing expression patterns, respectively. The molecular weight of factor IX has been estimated to be between 65 and 72 kDa, depending on the method of assessment [4]. Therefore it is unlikely that a higher level of factor IX is because of low GFR (cutoff of the glomerular basement membrane 
60 kDa) [5].
In conclusion, HD is a good therapeutic option for patients with a mild type of haemophilia B and ESRD requiring dialysis. Prolonged aPTT allows for HD without anticoagulation. Re-evaluation of the severity of haemophilia is advisable, due to the age-related increase in factor IX activity which may contribute to the proper management of the patient.
Conflict of interest statement. None declared.
Department of Nephrology and
Transplantation Medicine
Wroclaw Medical University
Wroclaw, Poland
Notes
See http://www.oxfordjournals.org/our_journals/ndtplus/
References
- Bajo MA, del Peso G, Jimenez V, et al. Peritoneal dialysis is the therapy of choice for end-stage renal disease patients with hereditary clotting disorders. Adv Perit Dial (2000) 16:170–173.[Medline]
- Sweeney JD, Hoernig LA. Age-dependent effect on the level of factor IX. Am J Clin Pathol (1993) 99:687–688.[Web of Science][Medline]
- Kurachi S, Deyashiki Y, Takeshita J, et al. Genetic mechanisms of age regulation of human blood coagulation factor IX. Science (1999) 285:739–743.
[Abstract/Free Full Text] - Suomela H, Human coagulation factor IX. Isolation and characterization. Eur J Biochem (1976) 71:145–54.[Web of Science][Medline]
- Vanholder R, De Smet R, Glorieux G, et al. European Uremic Toxin Work Group (EUTox). Review on uremic toxins: classification, concentration, and interindividual variability. Kidney Int (2003) 63:1934–43.[CrossRef][Web of Science][Medline]
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