1 Department of Anaesthesia, Leicester General Hospital, UHL NHS Trust, Leicester, UK. 2 Department of Haematology Leicester Royal Infirmary, UHL NHS Trust, Leicester, UK
* Corresponding author. E-mail: suecoley{at}doctors.org.uk
Accepted for publication July 12, 2004.
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Abstract |
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Keywords: analgesic techniques, epidural ; blood, platelet dysfunction ; complications, albinism ; complications, HermanskyPudlak syndrome ; complications, storage pool disease
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Introduction |
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Case report |
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After apparently achieving haemostasis, there was a small but continuing blood loss and further exploration in theatre was planned. At this time, her haemoglobin was 11.3 g dl1, platelets 327 x 109, INR 1 and APTT 1.1. For the procedure the epidural was topped up with bupivacaine 0.25 %, fentanyl and lidocaine 2%. Re-exploration of the tear revealed no active bleeding, but a continuous ooze from the raw areas was noted. The vagina was packed with swabs. The patient's systolic blood pressure was 6070 mm Hg and estimated blood loss was 1800 ml. She received two units of blood and 1 litre of gelofusine, with improvement in her blood pressure. Whilst the patient was being treated, her sister arrived on the delivery suite and informed us of her own confirmed diagnosis of HermanskyPudlak syndrome (HPS). A prompt internet search3 revealed the relevant details of HPS, the main features of which include reduced platelet activity and a varying degree of albinism.
There had been no formal investigation of our patient, although she had fair skin comparable with that of her diagnosed sibling, in contrast with other family members who were of dark skin colour. A retrospective history revealed that the patient suffered from recurrent nose bleeds, heavy periods and easy bruising, and had some visual impairment, the exact nature of which was unclear.
The patient's postoperative haemoglobin was 8 g dl1, platelets 205x109, INR 1 and APTT 1.1. She was kept on the delivery suite for close observation, in particular looking for signs to confirm regression of sensory and motor blockade from the regional anaesthetic since, with a possible diagnosis of HPS, she was at risk of an epidural haematoma. Recovery from epidural anaesthesia was normal.
After discussion with the haematologist, the diagnosis of HermanskyPudlak syndrome was thought likely, and as the surgical pack had to be removed, it was decided to cover the procedure with DDAVP, keeping platelets ready if required. She was given DDAVP 0.3 µg kg1 in 50 ml of normal saline i.v. over 20 min. The existing epidural was used to provide analgesia and the pack was removed with minimal blood loss. The epidural was removed 1 h later under the effect of DDAVP. The patient's recovery from sensory and motor blockade was again normal. Follow-up with the haematologist was arranged and subsequent investigation confirmed platelet storage pool disorder, in keeping with a diagnosis of HPS. The bleeding time was prolonged to >20 min (normal 29 min), secondary platelet aggregation was impaired and there was a reduction in platelet nucleotides associated with an increased ATP/ADP ratio.
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Discussion |
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Currently, the sine qua non for diagnosis of HPS is absence of dense bodies on electron microscopy of platelets,8 although the diagnosis is usually made by characteristic platelet aggregometry tracing, with absent or impaired secondary wave and deficiency of platelet nucleotides. Dense bodies store ATP, ADP, calcium and serotonin which, when released, activate other platelets and enhance the aggregation response. Standard laboratory tests, including PT, APTT and platelet count, are usually normal but the bleeding time is often prolonged. Thromboelastograph® data may provide a useful tool for monitoring response to treatment, although they would not classify the nature of the platelet disorder. Co-inheritance of von Willebrand's disease should also be excluded.
HPS is inherited in an autosomal recessive manner. Various genes are known to be associated with it, mainly HPS1, AOTB3A, HPS3 and HPS4, but mutations in other genes may also be involved. Correlations between specific HPS mutations and clinical presentation are not convincing, although HPS3 mutations have milder symptoms than those with HPS1 mutations.9 The albinism of HPS3 is characterized by such minimal hypopigmentation that occasional patients have carried a diagnosis of ocular albinism rather than oculocutaneous albinism. HPS4 resembles HPS1 in the variability and severity of the oculocutaneous albinism and bleeding diathesis.10 There is a suggestion that the pulmonary disease can occur because of any HPS mutation.6
Management of individual cases depends on the clinical picture exhibited. In our patient, on the advice of the haematologist, we used DDAVP to cover further surgical procedures, including the removal of the epidural catheter. DDAVP is often used in the treatment of mild haemophilia or von Willebrand's disease as it causes a 25-fold increase in release of factor VIII and von Willebrand's factor from stores. The mechanism of its action in platelet storage pool disorder is unclear. The response to DDAVP is not guaranteed and platelet transfusions may need to be given.
With prior knowledge of this patient's condition, we would have avoided regional analgesia. Alternatives would include all the non-invasive methods of analgesia, such as TENS (transcutaneous electrical nerve stimulation), Entonox or intravenous PCA (patient controlled analgesia) with fentanyl. For Caesarean section, which would only have been planned for obstetric reasons, general anaesthesia would have been offered. DDAVP is best avoided in the antenatal period because of the theoretical risk of inducing uterine contractions, but it could be given immediately after delivery. The third stage of labour should be managed actively.
In summary, an apparently fit primipara requested an epidural for labour analgesia and later required repair of a second-degree tear. After 3 h of surgical exploration in theatre, a possible explanation of the continued oozing was discovered in a positive family history of HPS. Prior knowledge of this history would have allowed diagnosis antenatally and a properly organized birth plan would have been agreed. As it was, the chance for genetic counselling before conception was lost, the patient was put at considerable risk of epidural haematoma, and she could have been spared a 3 h exploration of the continued ooze from her second-degree tear. Our patient had oculocutaneous albinism, which went unnoticed. However, she suffered no neurological or other deficits. HPS is the most common of all the syndromes occurring with albinism; hence a high index of suspicion should be maintained in any such patient.
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References |
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