Hermansky-Pudlak Syndrome Workup

  • Author: Natalio J Izquierdo, MD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: May 5, 2010
 

Laboratory Studies

  • Hair bulb incubation test classifies patients with OCA into tyrosinase negative or tyrosinase positive. All patients with HPS have Ty-pos OCA. Test results should be correlated clinically because some patients may have false-negative results.
  • Bleeding time of patients with the syndrome varies from 6-20 minutes. Witkop and co-workers reported that 25% of patients with the syndrome have bleeding time within normal limits.[16]
  • Platelet studies: Patients with the syndrome have normal platelets counts. However, platelets in patients with the syndrome show abnormal aggregation with collagen, thrombin, epinephrine, and ADP.
  • Platelet electron microscopy remains a clinical method of HPS diagnosis. Platelets of patients with the syndrome show virtual absence of DB. The high calcium content of DB allows their visualization in unfixed, unstained whole mount preparations in the EM. DB are needed for the second phase of platelet aggregation. HPS platelets lack granulophysin/CD63, which is a DB component and lysosomal membrane marker.
  • Genetic linkage analysis: Patients with OCA and bleeding tendencies may be referred for genetic linkage analysis. In this way, the mutation leading to the syndrome may be found.
  • Desmopressin trial: Some patients with the syndrome have an improved platelet aggregation, upon intravenous or intramuscular desmopressin injection. Patient's response to desmopressin should be evaluated prior to elective surgical procedures.
  • Pulmonary function tests: Mutations in the HPS-1 gene are associated with fatal pulmonary fibrosis. Patients with HPS should be evaluated using pulmonary function tests. Forced vital capacity (FVC), forced expiratory volume (FEV), mean total lung capacity, mean vital capacity, and mean diffusing capacity of the lung for carbon monoxide fall as interstitial lung disease progresses in patients with the syndrome.
  • Bone densitometry: Previous studies have reported that patients with albinism have a decreased bone density when compared to age-corrected control subjects. Bone densitometry should be completed in patients with OCA.
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Imaging Studies

  • High-resolution CT (HRCT) chest scan may be requested by a pneumologist in patients with the syndrome. Brantly and coworkers report that 82% of patients with the syndrome have abnormal HRCT chest scans.[17]
  • Patients with the syndrome who undergo trauma should have a CT scan to rule out intra-articular or intracranial bleeding.
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Other Tests

  • Low vision aids: Since patients with the syndrome have low vision, patients may benefit from a low vision aid evaluation. Instruments, such as closed circuit television (CCTV), "traveler's device," scanners, and telescopic lenses, facilitate patients' learning process.
  • Intelligence tests: Since patients with the syndrome have low vision, special (for the visually handicapped) intelligence quotient tests should be used to evaluate them.
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Contributor Information and Disclosures
Author

Natalio J Izquierdo, MD  Former Associate Professor of Ophthalmology, University of Puerto Rico

Natalio J Izquierdo, MD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, International Society for Genetic Eye Diseases and Retinoblastoma, Pan-American Association of Ophthalmology, and Sociedad Puertorriquena de Oftalmologia

Disclosure: Nothing to disclose.

Coauthor(s)

William Townsend, MD  Retired Professor, Chairman, and Director, Department of Ophthalmology, University of Puerto Rico, Medical Sciences

William Townsend, MD is a member of the following medical societies: American Academy of Ophthalmology and American Ophthalmological Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Andrew W Lawton, MD  Medical Director of Neuro-Ophthalmology Service, Section of Ophthalmology, Baptist Eye Center, Baptist Health Medical Center

Andrew W Lawton, MD is a member of the following medical societies: American Academy of Ophthalmology, Arkansas Medical Society, and Southern Medical Association

Disclosure: Nothing to disclose.

Simon K Law, MD, PharmD  Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology

Disclosure: Nothing to disclose.

Brian R Younge, MD  Professor of Ophthalmology, Mayo Clinic School of Medicine

Brian R Younge, MD is a member of the following medical societies: American Medical Association, American Ophthalmological Society, and North American Neuro-Ophthalmology Society

Disclosure: Nothing to disclose.

Lance L Brown, OD, MD  Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD  Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

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