Avinash Aswath and others describe a case study of a pregnant patient with Hermansky Pudlak syndrome (HPS) who had a general anaesthetic for forceps-assisted vaginal delivery
Hermansky Pudlak syndrome (HPS) also known as delta storage pool disease is a rare genetic disorder with autosomal recessive inheritance. The characteristic features are oculocutaneous albinism and a qualitative platelet dysfunction.
We report the anaesthetic management of a 29 yr. old parturient with a diagnosis of Hermansky Pudlak syndrome who had a carefully planned multidisciplinary (Obstetrician, Paediatrician, Anaesthetist and haematologist) approach for peripartum care.
She presented in spontaneous labour at 39 weeks of gestation and had a general anaesthetic for forceps delivery of healthy baby with no complications.
Hermansky Pudlak syndrome (HPS) is a rare genetic disorder with autosomal recessive inheritance. The characteristic features are oculo-cutaneous albinism and platelet dysfunction. It may also be associated with pulmonary fibrosis and granulomatous colitis.
There are 10 subtypes of condition (HPS 1-10) with HPS1 being the most common. The HPS gene is important in regulating the vesicle trafficking to lysosome like organelles like the melanosomes and dense granules of platelets . The lack of dense granules and the consequent lack of release of ADP, ATP and serotonin leads to inefficient platelet aggregation causing a functional defect in platelet function.
Subtypes of HPS (HPS1, 2 and 4) are associated with severe pulmonary fibrosis.
Although the disease is prevalent worldwide, it is more common in northwest Puerto Rico where at least 1in 21 individuals are carriers of the mutation.
Diagnosis of the condition requires clinical suspicion and platelet transmission electron microscopy of fresh plasma showing the absence of delta granules in platelets . And further genetic testing to diagnose the subtype. Further investigations are based on the associated systemic illness.
It is vital to be aware of this diagnosis particularly in a pregnant patient as it poses significant bleeding risk during delivery and has important anaesthetic implications as any form of regional anaesthetic is contraindicated. Further it is essential to seek the advice of haematologist to prevent and manage any haemorrhagic complications arising from patient or the new-born. A careful preplanning and multidisciplinary approach are the key to successful and safe management of the patient.
We describe a pregnant patient with HPS who had a general anaesthetic for forceps assisted vaginal delivery without any complications to mother and baby.
A 29-year-old lady G1P0 (gravida 1 para 0) presented at 39 weeks of gestation with spontaneous onset of labour.
She was diagnosed with HPS as a child, when her mother noted easy bruising following trivial trauma. She had been under the care of haematologist since then and there were no bleeding problems. She also had mild oculo-cutaneous albinism but no other medical illness or allergies (avoided NSAIDS and aspirin in view of HPS). The pregnancy was uneventful, and She was reviewed in high-risk pregnancy clinic by Consultant Anaesthetist who had requested a haematologist opinion.
The haematology advice was to avoid all intramuscular injections, regional anaesthesia of any type, Non-steroidal anti-inflammatory drugs (NSAIDs) & low molecular weight heparin (LMWH). Forceps delivery was to be permitted but not rotational forceps delivery or vacuum assisted delivery. Tranexamic acid 1 gram 6 hourly at onset of labour to 2 weeks post-partum was advised to reduce the chances and extent of bleeding. Two bags of platelets were to be available in case of excess bleeding.
On admission to labour ward, the anaesthetist on call performed a full anaesthetic assessment. The patient weighed 61kg with BMI of 24. She had never undergone any anaesthetics in the past and there was no family history of anaesthetic problems. Airway assessment was normal. She had good IV access and was commenced on tranexamic acid as per haematologist advice.
Her blood results on admission were Hb 129g/L, Platelets 259 (109 /L) PT 10.4 seconds, APTT 24.5 Seconds Fibrinogen 7.5g/ L.
After a multidisciplinary discussion it was decided that she could have a normal vaginal delivery and if necessary, a forceps delivery with an episiotomy performed under local anaesthesia.
After Obstetric review it was decided to assist delivery with forceps due to poor advancement in second stage of labour (as per plan from the haematologist). However, a General Anaesthetic (GA) was requested as the patient was not coping with Entonox alone and regional anaesthesia was contraindicated.
A further team briefing was done to discuss the pros and cons of conducting a forceps delivery vs caesarean section and the logistics of minimising time to delivery post GA.
Healthy baby weighing 3402 grams was delivered by forceps delivery and episiotomy under a general anaesthetic. APGAR scores at 1minute were 7 and at 5 & 10 minutes were 9. She had Oxytocin bolus of 5 units and an infusion of 40 units of oxytocin over 4 hours. The estimated blood loss was 500ml and she made an uneventful recovery from general anaesthetic. The baby was checked by the paediatricians and no abnormalities noted. As per haematologist advice the patient was not prescribed any NSAIDs or LMWH but was advised to continue oral tranexamic acid for 2 weeks post-partum. There were no bleeding complications postoperatively and the patient was safely discharged home 34 hours after delivery.
HPS is one of many rare genetic disorders which can affect the conduct of anaesthesia and which have particular consequences for the obstetric patient due to effects on blood coagulation .
Our patient had a very mild form of oculo-cutaneous albinism with slight impairment in vision and she did not have any bleeding issues as an adult or any systemic illness. The exact subtype of HPS has not been fully elucidated.
There are many case reports of peri-partum care of patients with HPS. Regional anaesthesia is contraindicated because of the risk of bleeding, however there is one case report where an epidural was used when the diagnosis was not known  and the patient had a normal vaginal delivery but bled after a perineal tear requiring resuscitation with blood and DDAVP (after the family revealed the diagnosis). The epidural was safely removed after the DDAVP without any complications.
General anaesthesia remains the only option for analgesia and anaesthesia in a known case of HPS. There are no case reports of general anaesthesia being used for a forceps delivery or assisted vaginal delivery.
The response with DDAVP has been found to be variable with good success rates  in few patients when administered prophylactically but with no effect in other patients and sometimes-variable effect even with the same patient .
Prophylactic platelet transfusion was administered in several case reports and again there is a variable response while some patients did not have any bleeding complications [7-8] a few had post-partum haemorrhage (PPH) despite the prophylactic platelet transfusion [9-10]
In conclusion HPS is a rare genetic disorder with a qualitative platelet dysfunction and hence a high risk of bleeding post-partum. The patients with a known diagnosis of HPS should be seen early in high risk clinic by anaesthetists and multidisciplinary approach involving haematologist, obstetrician paediatrician and anaesthetist must be used to manage the peri-partum care. Although the effect of DDAVP and prophylactic platelet transfusion is variable, they must be made available and used in consultation with haematologist. As regional anaesthesia is contraindicated other options like remifentanil PCA for labour analgesia may be considered and general anaesthesia for operative procedures.
Dr Avinash Aswath, ST5 Registrar in Anaesthetics , Darent Valley hospital, UK
Dr Baber Zaheer, Consultant Anaesthetist, Darent Valley hospital, UK
Dr Abrar Shafique, Specialty Doctor in Anaesthetics, Darent Valley hospital, UK
Consent: Published with the written consent of the patient
Competing interests: No external funding and no competing interests declared.
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