Hermansky‐pudlak syndrome: Correction of bleeding time by 1‐desamino‐8D‐arginine vasopressin

Wijermans, Pierre W.; Dorp, D. B. van

doi:10.1002/ajh.2830300307

Cited by 40 publications

(23 citation statements)

References 22 publications

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“…While some found merit, others were disappointed [56, 73, 74]. Although testing with DDVAP prior to intervention has been recommended, at least 1 case demonstrates that effectiveness can be quite variable even within the same individual [55].…”

Section: Treatmentmentioning

confidence: 99%

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

et al. 2006

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Hermansky-Pudlak syndrome (HPS) is a rare heterogeneously inherited autosomal recessive group of disorders presenting with oculocutaneous albinism, bleeding diathesis and pulmonary disease. HPS is thought to occur as a consequence of disturbed formation or trafficking of intracellular vesicles, most importantly, melanosomes, platelet dense granules and lysosomes. The latter finding, in particular, contributes much to the morbidity associated with the disease, as ceroid lipofuscin deposits in lysosomes affect many organ systems. This is especially problematic in the lungs where it is often associated with pulmonary fibrosis and premature death. Currently, there are 7 known HPS genes in humans. In the mouse, at least 16 known HPS genes produce HPS-mutant phenotypes. The HPS gene mutation is considered to be one of the most prevalent single-gene disorders in northwest Puerto Rico, home to the largest cohort of known patients. In HPS, interventions addressing the bleeding diathesis and pulmonary fibrosis are often disappointingly ineffectual. Pirfenidone, a novel compound with documented anti-inflammatory, antioxidant and antifibrotic effects, appears to hold promise in delaying or preventing fibrosis. To date, there has been one successful lung transplant performed on a patient with HPS. We present a patient with HPS and review the current literature on our understanding of this rare disorder.

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Section: Treatmentmentioning

confidence: 99%

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

et al. 2006

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“…Platelet aggregation studies in this patient showed poor responses to adenosine triphosphate and no secondary aggregation wave. His platelets responded to desmopressin, indicating that desmopressin may be effective in prevention or treatment of his bleeding secondary to Hermansky-Pudlak syndrome [13]. Furthermore, to determine the patient’s subtype of Hermansky-Pudlak syndrome, we performed exome analysis and Sanger sequencing, and we identified a novel homozygous c.1114 C>T (p.Arg372*) mutation (rs776754431) in HPS6 (Figure 2C).…”

Section: 1 Resultsmentioning

confidence: 99%

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism

O’Brien

Lozier

Cullinane

et al. 2016

Molecular Genetics and Metabolism

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Purpose Hemophilia B, an X-linked disease, manifests with recurrent soft tissue bleeding episodes. Hermansky-Pudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a platelet storage pool defect. We report a novel mutation in HPS6 in a Caucasian man with hemophilia B and oculocutaneous albinism. Results The patient was diagnosed with hemophilia B at age 4 months due to recurrent soft tissue bleeding episodes, and he was also diagnosed with Hermansky-Pudlak syndrome at 32 years of age due to unexplained oculocutaneous albinism. His factor IX level was markedly reduced at 13%; whole exome and Sanger sequencing showed the Durham mutation in F9 (NM_000133.3). The diagnosis of Hermansky-Pudlak syndrome subtype 6 was established by demonstrating absence of platelet delta granules on whole mount electron microscopy, an abnormal secondary wave in platelet aggregation studies, and a novel homozygous c.1114 C>T (p.Arg372*) mutation in HPS6 (NM_024747.5) on exome analysis and Sanger sequencing. Clinical phenotyping revealed no evidence of recurrent or unusual infections, interstitial lung disease or pulmonary fibrosis, or neurological disorders. The patient was treated with fresh frozen plasma, recombinant factor IX, and aminocaproic acid. Treatment with desmopressin was added to his regimen after he was diagnosed with Hermansky-Pudlak syndrome. Treatment of bleeding episodes results in effective hemostasis, and the patient has not required platelet or blood product transfusions. Conclusions This report highlights the need to consider Hermansky-Pudlak syndrome as an etiology of oculocutaneous albinism even in patients with known hematologic disorders associated with bleeding. Identification of a novel mutation in HPS6 in an individual with hemophilia B shows that, although quite rare, patients may be diagnosed with two independent inherited bleeding disorders. No evidence of lung disease was found in this adult patient with Hermansky-Pudlak syndrome subtype 6.

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“…In order to prevent severe bleeding, desmopressin, plasmapheresis, or platelet suspensions may be used [4]. While there is no cure for HPS, treatment for the chronic haemorrhages associated with this disorder includes therapies with vitamin E and the antidiuretic desmopressin acetate [10]. …”

Section: Discussionmentioning

confidence: 99%

“…Intraoperative, perioperative, and postoperative haemorrhage should be prevented and treated in patients with HPS. Desmopressin acetate and plasmapheresis can be used in the perioperative period [10]. HPS patients are advised to consult with pulmonary and haematology specialists in the preoperative period for potential lung or bleeding problems, respectively, during surgery.…”

Section: Discussionmentioning

confidence: 99%

Hermansky-Pudlak Syndrome: A Case Report

Berber

Erkurt

Kuku

et al. 2014

Case Reports in Hematology

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Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly) administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.

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Hermansky‐pudlak syndrome: Correction of bleeding time by 1‐desamino‐8D‐arginine vasopressin

Cited by 40 publications

References 22 publications

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism

Hermansky-Pudlak Syndrome: A Case Report

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