Hermansky-Pudlak Syndrome Questions & Answers

Updated: Dec 11, 2019
  • Author: Natalio J Izquierdo, MD; Chief Editor: Hampton Roy, Sr, MD  more...
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Questions & Answers

Overview

What is Hermansky-Pudlak syndrome (HPS)?

What is the pathophysiology of Hermansky-Pudlak syndrome (HPS)?

What is the US prevalence of Hermansky-Pudlak syndrome (HPS)?

What is the global prevalence of Hermansky-Pudlak syndrome (HPS)?

What is the morbidity and mortality associated with Hermansky-Pudlak syndrome (HPS)?

What is the sexual predilection of Hermansky-Pudlak syndrome (HPS)?

What is the prognosis of Hermansky-Pudlak syndrome (HPS)?

What is included in patient education about Hermansky-Pudlak syndrome (HPS)?

What is included in ophthalmic patient education about Hermansky-Pudlak syndrome (HPS)?

What is included in patient education about the pulmonary complications of Hermansky-Pudlak syndrome (HPS)?

What is included in patient education about bleeding diathesis in Hermansky-Pudlak syndrome (HPS)?

What is included in dermatologic patient education about Hermansky-Pudlak syndrome (HPS)?

Presentation

Which ocular history findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

What is the focus of the clinical history to evaluate for Hermansky-Pudlak syndrome (HPS)?

Which ocular findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

What are the phenotypic skin findings of Hermansky-Pudlak syndrome (HPS)?

Which systemic physical findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

What causes Hermansky-Pudlak syndrome (HPS)?

DDX

What are the differential diagnoses for Hermansky-Pudlak Syndrome?

Workup

What is the role of lab tests in the workup of Hermansky-Pudlak syndrome (HPS)?

What is the role of imaging studies in the workup of Hermansky-Pudlak syndrome (HPS)?

What is the role of vision testing in the workup of Hermansky-Pudlak syndrome (HPS)?

What is the role of IQ testing in the workup of Hermansky-Pudlak syndrome (HPS)?

Treatment

How is Hermansky-Pudlak syndrome (HPS) treated?

What is the role of surgery in the treatment of Hermansky-Pudlak syndrome (HPS)?

Which specialist consultations are beneficial to patients with Hermansky-Pudlak syndrome (HPS)?

Which dietary modifications are used in the treatment of Hermansky-Pudlak syndrome (HPS)?

Which activity modifications are used in the treatment of Hermansky-Pudlak syndrome (HPS)?

What are the possible complications of bleeding diathesis in Hermansky-Pudlak syndrome (HPS)?

How should the pulmonary complications of Hermansky-Pudlak syndrome (HPS) be managed?

Medications

What is the role of medications in the treatment of Hermansky-Pudlak syndrome (HPS)?

Which medications in the drug class Hemostatic agents are used in the treatment of Hermansky-Pudlak Syndrome?