• Disease Overview
  • Synonyms
  • Signs & Symptoms
  • Causes
  • Affected Populations
  • Disorders with Similar Symptoms
  • Diagnosis
  • Standard Therapies
  • Clinical Trials and Studies
  • References
  • Programs & Resources
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Hermansky Pudlak Syndrome


Last updated: 6/14/2023
Years published: 1993, 1998, 1999, 2005, 2008, 2012, 2015, 2018, 2023


NORD gratefully acknowledges Marjan Huizing, PhD, Wendy J Introne, MD, May Christine V Malicdan, MD, PhD, and Kevin J O’Brien, RN, MS-CRNP, Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health for assistance in the preparation of this report.

Disease Overview

Hermansky-Pudlak syndrome (HPS) is a rare, hereditary disorder that consists of decreased pigmentation (albinism) with visual impairment, and blood platelet dysfunction with prolonged bleeding. Some individuals have lung fibrosis, inflammatory bowel disease, immunodeficiency or an abnormal storage of a fatty-like substance (ceroid lipofuscin) in various tissues of the body.

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  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
  • delta storage pool disease
  • HPS
  • syndromic albinism
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Signs & Symptoms

The first symptoms of HPS often include easy bruising, bleeding gums, nose bleeds and excessive bleeding after surgery or accidents. The classic symptoms of Hermansky-Pudlak syndrome include the lack of color (pigmentation) in the skin, hair, and eyes (oculocutaneous
albinism) and dysfunction of blood platelets leading to prolonged bleeding (storage pool-deficient platelets).

The skin, hair and eyes of a person with HPS may vary in color from very pale to almost normal coloring. Eyesight is almost always impaired, commonly with visual acuities of 20/100 or worse (i.e., legally blind). The blood platelet abnormality may cause excessive bleeding, especially in women during menstruation, and with trauma or surgery. Bleeding may become life-threatening, and blood thinning medications can make the bleeding worse. Approximately one-sixth of individuals with HPS develop inflammatory bowel disease, with pain and bloody diarrhea. Individuals with type 1, type 2, or type 4 HPS (see below) develop a lung disease called pulmonary fibrosis that can lead to death in the thirties, forties or fifties. In addition, patients with HPS type 2 and type 10 can have an immunodeficiency that can present with different severities, from mild recurrent bacterial and viral infections to a life-threatening condition called hemophagocytic lymphohistiocytosis (HLH).

The deposits of fatty-like ceroid lipofuscin may occur within the cells of many organs such as the lungs, colon, heart and kidneys. This by itself is not known to cause symptoms.

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HPS is caused by changes (variants or mutations) in 11 different genes. Variants in the HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, BLOC1S8, BLOC1S3, BLOC1S6, AP3D1, or BLOC1S5 genes are responsible for HPS types 1 to 11, respectively. Research suggests that an abnormality of the formation or movement of lysosome-like vesicles in specific cells may be responsible for the development of the disease.

HPS is inherited in an autosomal recessive pattern. In recessive disorders, the condition does not appear unless a person inherits one defective gene from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but will not show symptoms. If both parents are carriers for a recessive disorder, the risk of transmitting the disease to a child is 25 percent; the risk that a child would be a carrier for the disease is 50 percent, and a child would inherit two normal genes 25 percent of the time. The risk is the same for each pregnancy.

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Affected populations

HPS is a rare disorder that affects males and females in equal numbers. The worldwide prevalence of HPS is estimated at 1-9 per 1,000,000. Worldwide, HPS is the third most common form of albinism. HPS occurs in different populations, but it is most prevalent in people from Puerto Rico. In northwest Puerto Rico, HPS affects one of every 1,800 individuals, and one in 21 individuals of northwest Puerto Rican descent are believed to be carriers of a variant (mutation) in the HPS type 1 gene. A variant in the HPS type 3 gene is frequent in central Puerto Rico, where an estimated 1 of every 4,000 individuals are affected with HPS type 3.

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The presence of a combination of hypopigmentation (light hair and skin color), characteristic eye findings and a history of bleeding episodes (bruising, nosebleeds, gum bleeding, prolonged bleeding after minor wounds or surgical procedure) can lead to consideration of a diagnosis of HPS. A specialized test demonstrating characteristic appearance of the blood platelets under an electron microscope is consistent with the diagnosis. The HPS diagnosis and HPS subtype is ultimately established by identifying mutations in one of the HPS genes (HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, BLOC1S8, BLOC1S3, BLOC1S6, AP3D1, or BLOC1S5) by molecular genetic testing These tests are available on a clinical basis.

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Standard Therapies

Protection from prolonged sun exposure is critical for individuals with HPS because their skin is sun-sensitive, and they are at risk for sun-induced skin damage (skin cancer, solar keratoses and melanocytic nevi).

Excessive bleeding in individuals with HPS may be treated with medications that promote blood coagulation such as desmopressin (DDAVP), which has been shown to be effective for some patients. Other agents include aminocaproic acid, tranexamic acid and recombinant factor seven. For more serious bleeding, platelet transfusions can also be used and if possible, tissue-matched platelets is recommended. Women with excessive menstrual bleeding (menorrhagia) can be treated with oral contraceptives, an intra-uterine device (IUD) and sometimes surgical procedures for intractable cases.

Individuals with HPS should avoid certain classes of medications that can increase bleeding. Medications such as aspirin and ibuprofen (non-steroidal anti-inflammatory drugs), heparin and coumadin may increase bleeding risk. Hematologists can create a bleeding management plan, outlining medication management strategies that can be shared with other providers, schools and the individual’s workplace. The use of medical identification jewelry is also helpful.

The inflammatory bowel disease associated with HPS typically causes colitis but may also affect the upper intestinal tract and even other organs. Corticosteroids, some aminosalicylates and biologic agents, such as anti-TNF-α drugs, are beneficial. For intractable cases, surgical bowel resection can be therapeutic.

Individuals with HPS types 1, 2, or 4 who develop pulmonary fibrosis may eventually need a lung transplant. For these individuals, tissue-matched platelets are the best choice when transfusion is necessary, but in general, platelet transfusions should be used sparingly, since multiple transfusions can induce antibodies leading to graft rejection.

There is no approved anti-fibrotic medication for HPS-associated pulmonary fibrosis. Care is designed to preserve pulmonary function by avoiding cigarette smoke and other lung toxins, early treatment of pulmonary infections, staying up to date on respiratory pathogen immunizations and maintenance of a regular exercise program.

Difficulty functioning due to ocular issues from albinism are common and begin early in life. Low-vision ophthalmologists can prescribe adaptive lenses, prescription sunglasses and other aides that enhance vision. Individualized educational programs can ensure that students sit close to the instructor, have access to low vision computer monitors and have documents printed in larger font. Lastly, crossed eyes (strabismus) affects some individuals and can be treated with various modalities.

The neutropenia that underlies the immunodeficiency in individuals with HPS types 2 or 10 creates a risk for infections. The condition may be responsive to granulocyte colony-stimulating factor (G-CSF) and can be used in conjunction with preventative strategies. Physicians can help create infection prevention and treatment plans that can be shared with other physicians, families and schools.

Genetic counseling is recommended for affected individuals and their families. Other treatment is symptomatic and supportive.

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

Some current clinical trials are posted on the following page on the NORD website:

For information about clinical trials sponsored by private sources, contact:

For information about clinical trials conducted in Europe, contact:

A study is being conducted at the National Institutes of Health/National Human Genome Research Institute to gather information on Hermansky-Pudlak syndrome. More studies are needed to determine the safety and effectiveness of treatments for Hermansky-Pudlak syndrome.

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Obeng-Tuudah D, Hussein BA, Hakim A, Gomez K, Abdul Kadir R. The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review. Int J Gynaecol Obstet. 2021;154(3):412-426. DOI: 10.1002/ijgo.13632

O’Brien KJ, Parisi X, Shelman NR, Merideth MA, Introne WJ, Heller T, Gahl WA, Malicdan MCV, Gochuico BR. Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study. J Intern Med. 2021;290(1):129-140. DOI: 10.1111/joim.13224

Velázquez-Díaz P, Nakajima E, Sorkhdini P, Hernandez-Gutierrez A, Eberle A, Yang D, Zhou Y. Hermansky-Pudlak syndrome and lung disease: pathogenesis and therapeutics. Front Pharmacol. 2021;12:644671. DOI: 10.3389/fphar.2021.644671

Yokoyama T, Gochuico BR. Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease. Eur Respir Rev. 2021;30(159):200193. DOI: 10.1183/16000617.0193-2020

Dupuis A, Bordet JC, Eckly A, Gachet C. Platelet δ-storage pool disease: an update. J Clin Med. 2020;9(8):2508. DOI: 10.3390/jcm9082508

Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O’Brien KJ, Merideth MA, Gahl WA, Gochuico BR. Hermansky-Pudlak syndrome:mMutation update. Hum Mutat. 2020;41(3):543-580. DOI: 10.1002/humu.23968

Bowman SL, Bi-Karchin J, Le L, Marks MS. The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases. Traffic. 2019;20(6):404-435. DOI: 10.1111/tra.12646

Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Bernardini I. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med. 1998;338:1258-64. DOI: 10.1056/NEJM199804303381803

Introne WJ, Huizing M, Malicdan MCV, et al. Hermansky-Pudlak Syndrome. 2000 Jul 24 [Updated 2023 Mar 16]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1287/ Accessed May 24, 2023.

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Programs & Resources

RareCare® Assistance Programs

NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.

Additional Assistance Programs

MedicAlert Assistance Program

NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.

Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/

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Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/

Rare Caregiver Respite Program

This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.

Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/

Patient Organizations

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