Image for Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome

Related Terms

  • Content available for subscribers only.

Background

  • Hermansky-Pudlak syndrome (HPS) belongs to a group of disorders known as albinism. Albinism is characterized by decreased or absent pigment (coloring) in the skin, hair, and iris of the eyes. In some cases, albinism includes other eye problems, such as decreased visual clearness, sensitivity to light, involuntary eye movements, problems with the iris, and decreased pigment in the retina on the back of the eye.
  • Albinism is caused by mutations or defects in genes that provide instructions for making the pigment melanin, a material that changes the color of light it reflects and provides color to hair, skin, and eyes. Unlike some types of albinism, in which melanin is completely absent, people with HPS do produce some melanin, so this may be a less severe type of the disease. HPS includes a bleeding tendency and a predisposition to lung disease. HPS may also include inflammatory bowel disease or kidney disease.
  • There are eight types of HPS, each of which is caused by a different genetic mutation or defect. HPS is inherited, or passed down among family members, as an autosomal recessive trait. Individuals receive two copies of most genes, one from the mother and one from the father. To inherit an autosomal recessive trait, an individual must inherit two defective copies of the causative gene. Individuals who inherit only one copy of the defective gene are called carriers. Carriers generally do not have any symptoms but may pass on the disorder to their children.
  • Genes that may lead to HPS in humans include the HPS1,HPS2 (AP3B1), HPS3, HPS4, HPS5, HPS6, and HPS7 genes, which are involved in vesicle formation within cells. Vesicles transport substances within the cell that allow for normal functioning.
  • Further content available for subscribers only.

Risk Factors

  • Content available for subscribers only.

Causes

  • Content available for subscribers only.

Signs and Symptoms

  • Content available for subscribers only.

Types of the Disease

  • Content available for subscribers only.

Diagnosis

  • Content available for subscribers only.

Complications

  • Content available for subscribers only.

Treatment

  • Content available for subscribers only.

Integrative Therapies

  • Content available for subscribers only.

Prevention

  • Content available for subscribers only.

Author Information

  • Content available for subscribers only.

References

Natural Standard developed the above evidence-based information based on a thorough systematic review of the available scientific articles. For comprehensive information about alternative and complementary therapies on the professional level, go to www.naturalstandard.com. Selected references are listed below.

  • Content available for subscribers only.
The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.