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
Summary
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.
Introduction
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 [1]. 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 [2]. 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 approac