eMedicine Specialties > Dermatology > Diseases of Pigmentation

Hermansky-Pudlak Syndrome: Follow-up

Author: Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, New York Medical College-Metropolitan Hospital; Private Practice
Coauthor(s): Ann M Johnson, MD, Pediatric Radiology Fellow, Department of Radiology, The Children's Hospital of Philadelphia
Contributor Information and Disclosures

Updated: Feb 14, 2008

Follow-up

Further Inpatient Care

  • Care must be taken when surgery is performed on patients with HPS because of bleeding problems and pulmonary compromise.

Further Outpatient Care

  • A variety of steps in medical care can be useful in helping patients with HPS, including the following:
    • A MedicAlert bracelet or other identification can be helpful in notifying caregivers of patients with HPS who have a bleeding disorder.
    • The avoidance of aspirin, products containing aspirin, and any other products that may compromise platelet function is important for patients.
    • The importance of good dental care needs to be explained to patients. The dentist must be aware that the patient has HPS because some dental procedures may require special medications and precautions.
    • Proper treatment of nosebleeds is important for patient care. Nasal packing should only be performed under medical supervision because removal may cause further bleeding.
    • Damage to the lungs must be avoided; thus, diligent treatment of upper respiratory infections and avoidance of smoking are useful.
    • The use of gauze with petrolatum and pressure dressings on cuts or abrasions that require coverings is useful.
    • In the care of patients with HPS, thrombin on Gelfoam has a role in surface bleeding and DDAVP and platelets have a role in serious bleeding.
  • Feliciano et al21 noted steps to facilitate dental care for patients with HPS, including (1) use of eyeglasses with 99% ultraviolet filter to protect HPS patients from the unpleasant dental light stimulus, (2) an extra-soft toothbrush and conservative brushing technique, (3) use of medications with antifibrinolytic agents, and (4) local care to ensure hemostasis.

Deterrence/Prevention

  • Patients can receive genetic counseling. Patients in areas that have a high incidence of carriers of HPS should avoid marrying close relatives. Currently, no gene therapy for HPS exists.

Complications

  • The most common complication is bleeding, and care should be taken to minimize its effects in surgery and to avoid trauma.
  • Ceroid can infiltrate all body organs and can lead to pulmonary failure, kidney failure, cardiomyopathy, colitis, and other organ malfunctions. In particular, pulmonary complications can occur following general endotracheal anesthesia.
  • Because patients with HPS are photosensitive, skin cancers can develop and visual function can worsen.

Prognosis

  • Patients are often legally blind, and vision can worsen over time. Cataracts can also develop at an earlier age than in healthy control subjects.
  • Because patients receive blood and platelet transfusions, the occurrence of blood-borne illness transmission is higher in these patients. As many as 13% of patients with HPS die from hemorrhagic episodes.
  • Pulmonary complications are more common in Puerto Rican patients. In patients with HPS, the most common cause of death (50%) is pulmonary fibrosis.
  • Some patients have colitis, and about 13% of patients die from complications relating to colitis.

Patient Education

  • Vision education
    • Patients need extensive education regarding visual impairment and visual enhancement. They need to understand the implications of photophobia, low-vision aids, nystagmus, and strabismus.
    • The benefits of protective sunglasses must be explained to patients. Sunglasses decrease photophobia in patients with HPS. Sunglasses with ultraviolet protection minimize the harmful visual effects of ultraviolet rays. Further, blue blockers, yellow tint, or polarized glasses may decrease photophobia in patients with HPS.
    • Low-vision aids enhance the lives of patients with HPS. These aids can facilitate educational activities. Patients and families need education regarding telescopic lenses, high-contrast school materials, and font magnifiers.
    • Grønskov et al22 have suggested that people with diseases such as HPS (1) use glasses (possibly bifocals) and dark glasses or photochromic lenses to abate effects of reduced visual activity and photophobia and (2) consider having strabismus and nystagmus corrected if necessary.
  • Skin education
    • Patients need to understand that their skin is sensitive to the sun.
    • They must wear sunblock with a high SPF and avoid sun exposure.
    • They should wear hats and undergo frequent dermatologic evaluation.
    • They should obtain regular skin cancer checks.
  • Hematologic education
    • Patients and families need to understand the implications of the increased bleeding tendency.
    • Patients must avoid contact sports and physical trauma.
    • Surgery should be undertaken with caution.
  • Pulmonary education: Patients need to understand that lung and heart function can be adversely affected by HPS. Therefore, they need to frequently visit doctors to assess and avoid the complications involved.
  • Other: Because patients with HPS have many health issues, they might require psychological, educational, and social assistance from appropriate specialists.
  • For excellent patient education resources, visit eMedicine's Ear, Nose, and Throat Center. Also, see eMedicine's patient education article Nosebleeds.

Miscellaneous

Medicolegal Pitfalls

  • HPS must be distinguished from other forms of albinism because it has many systemic manifestations.

Special Concerns

  • Patients with HPS who experience trauma must receive prompt evaluation and appropriate imaging studies because of the increased bleeding tendency.
  • Patients with HPS are usually legally blind; therefore, appropriate interventions to enhance vision must be undertaken. With visual enhancement, patients are often able to drive cars. Because of the status of people who are legally blind, special education and medical and social benefits may be available.
  • Because of the bleeding problems, pregnancies in patients with HPS are considered high risk, and these patients are at increased risk during labor, cesarean delivery, and the perinatal period.
 


More on Hermansky-Pudlak Syndrome

Overview: Hermansky-Pudlak Syndrome
Differential Diagnoses & Workup: Hermansky-Pudlak Syndrome
Treatment & Medication: Hermansky-Pudlak Syndrome
Follow-up: Hermansky-Pudlak Syndrome
Multimedia: Hermansky-Pudlak Syndrome
References
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Further Reading

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Keywords

Hermansky-Pudlack syndrome, HPS, oculocutaneous albinism, lysosomal ceroid storage

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Contributor Information and Disclosures

Author

Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, New York Medical College-Metropolitan Hospital; Private Practice
Noah S Scheinfeld, MD, JD, FAAD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Coauthor(s)

Ann M Johnson, MD, Pediatric Radiology Fellow, Department of Radiology, The Children's Hospital of Philadelphia
Disclosure: Nothing to disclose.

Medical Editor

Smeena Khan, MD, Private Practice, Adult and Pediatric Dermatology Associates
Smeena Khan, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Director, Division of Dermatology, Scott and White Clinic; Director Dermatology Residency Training Program, Scott and White Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: 3M Pharmaceutical Grant/research funds Other; Graceway Pharmaceuticals Grant/research funds Other

Managing Editor

Jeffrey J Miller, MD, Associate Professor, Department of Dermatology, Penn State University, Milton S Hershey Medical Center
Disclosure: Nothing to disclose.

CME Editor

Joel M Gelfand, MD, MSCE, Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania
Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology
Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds None; Genentech Consulting fee Consulting; Centocor Consulting fee Consulting; Centocor Grant/research funds None; Covance Consulting fee Consulting; Shire  Consulting

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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