Abstract
Hermansky-Pudlak syndrome is a rare autosomal recessive disorder estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Clinically, it presents as oculocutaneous albinism combined with bleeding diathesis. This is due to the absence of dense bodies in platelets causing a delayed secondary response resulting in prolonged bleeding time despite normal platelet count and coagulation factors. This has consequences for major bleeding, the risk of which is high at delivery. In the longer term, the condition is also associated with the development of pulmonary fibrosis, inflammatory bowel disorders caused by granulomatous colitis and renal failure. We present a case of a patient with Hermansky-Pudlak syndrome diagnosed and managed through her second pregnancy by the Obstetric Haematology team in a Tertiary Unit. During her previous pregnancy at a District Hospital, they had not been aware of the diagnosis; she then had a forceps delivery and her haemoglobin dropped to 69 g/L. During this pregnancy, she was managed in a multidisciplinary setting involving obstetrics, haematology, anaesthesia and neonatology. She was induced at 39 weeks and had human leukocyte antigen-matched platelets prepared for her delivery. Her platelet count was normal throughout the pregnancy. She had a normal vaginal delivery under platelet cover and also received tranexamic acid at the time of cord clamping. Her blood loss was moderate and her haemoglobin dropped from 115 to 97 g/L. She recovered well. We discuss the diagnosis, pathology and management of this very rare condition in pregnancy and thereafter.