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PubMed This is a summary of 18 peer-reviewed journal articles Updated
Hematology

Navigating Your New Reality with Hermansky-Pudlak Syndrome

At a Glance

Hermansky-Pudlak syndrome is a rare inherited disorder that can affect pigmentation, vision, and blood clotting. Genetic testing identifies the subtype, which helps doctors anticipate lung, bowel, immune, or neurologic risks and plan long-term monitoring.

Receiving a diagnosis of Hermansky-Pudlak Syndrome (HPS) often brings a mixture of overwhelming emotions. You may feel a sense of relief at finally having a name for a collection of symptoms that may have been puzzling for years, or you may feel a deep sense of fear and isolation upon learning how rare this condition is [1]. It is normal to feel like you have been thrust into a role you didn’t ask for: becoming the world’s leading expert on your own health or your child’s health [1]. Because HPS is so rare, you may find that you are the first person with this condition your local doctors have ever met, a reality that can be both frustrating and exhausting [1].

Understanding HPS: A Simple Definition

HPS is a rare, autosomal-recessive disorder [2]. “Autosomal recessive” means it is inherited when a person receives one copy of a mutated gene from each parent. When both parents carry the genetic variant (are carriers), there is a 25% chance in each pregnancy that the child will have HPS. Genetic counseling can be very helpful for family planning and testing siblings.

Biologically, HPS is defined as a disorder of lysosome-related organelles (LROs) [3]. You can think of LROs as specialized “shipping and storage containers” inside your cells that hold and move vital materials [3][4].

In HPS, these containers do not form or travel correctly, which primarily affects three areas:

  • Pigmentation: Cells called melanosomes (the containers for pigment) are often smaller or fewer than normal, leading to oculocutaneous albinism—reduced color in the skin, hair, and eyes [3][5].
  • Vision: Reduced pigment in the eyes affects development, often causing nystagmus (involuntary eye movement), light sensitivity (photophobia), and reduced sharpness of vision [5].
  • Bleeding: Platelets, the cells that help blood clot, are missing “dense granules” (containers for clotting chemicals) [6]. This platelet delta-storage pool deficiency means the blood does not clot as efficiently, leading to easy bruising or prolonged bleeding after injury or surgery [6][7].

The Power of Rarity and Heritage

HPS is exceptionally rare on a global scale, affecting approximately 1 to 9 people per million [2]. However, this rarity changes significantly based on heritage. Due to a founder effect—where a specific genetic trait becomes common in a small, isolated population—HPS is much more frequent among people of Puerto Rican descent, affecting roughly 1 in 1,800 individuals in that community [2][8].

While heritage can provide a clue, doctors now emphasize that molecular testing (genetic testing) along with platelet imaging is essential to accurately confirm a diagnosis and identify the specific subtype of HPS [9][10].

One Name, Many Paths: The Importance of Subtypes

There are currently 11 known subtypes of HPS (labeled HPS-1 through HPS-11), and your experience with the disease depends heavily on which subtype you have [2][11]. Scientists group these subtypes based on which “protein complex” is broken in the cell’s shipping system. Note: Clinical evidence for the rarest subtypes is limited, so these are general categories, not a prediction of an individual’s inevitable course.

Complex Group Subtypes Included Typical Clinical Associations
BLOC-3 HPS-1, HPS-4 Often associated with progressive pulmonary fibrosis (scarring of the lungs) and a risk for Crohn-like gastrointestinal issues [12][13].
AP-3 HPS-2, HPS-10 Associated with neutropenia (low white blood cell count/immune risk) and potentially early-onset lung issues in HPS-2 [14][15]. HPS-10 has been reported to involve neurologic symptoms in some individuals.
BLOC-2 HPS-3, HPS-5, HPS-6 Tends to have albinism and bleeding risks, but generally lower risk of severe lung or bowel disease compared to BLOC-3 [16][17].
BLOC-1 HPS-7, HPS-8, HPS-9, HPS-11 Extremely rare. Evidence is very limited; often considered milder but still require close monitoring for any emerging symptoms [17].

Even within the same subtype, the disease can look very different from person to person [2]. While HPS is a lifelong journey that requires specialized monitoring, knowing your subtype allows you and your medical team to move from a place of “unknown” to a place of proactive, targeted care [2][18].

Moving Forward

Though the diagnosis is rare, you are not alone. There is a small but dedicated global community of patients, researchers, and specialists who understand this condition [1]. Your path forward will involve building a team of specialists—including hematologists, pulmonologists, and ophthalmologists—who will work with you to manage symptoms and monitor your health over time [8][12]. While the rarity of HPS means you may sometimes have to advocate for yourself or teach your own providers, having a clear genetic diagnosis is the first step in taking control of that journey [1][2].

Common questions in this guide

What is Hermansky-Pudlak syndrome?
Hermansky-Pudlak syndrome is a rare inherited disorder in which certain cell structures do not form or move normally. It commonly causes reduced pigmentation, vision problems, and impaired platelet clotting that can lead to easy bruising or prolonged bleeding. Some subtypes also increase the risk of lung, gastrointestinal, immune, or neurologic problems.
How is HPS inherited, and what is the chance for a child to have it?
HPS follows an autosomal-recessive inheritance pattern, so a child generally must receive a disease-causing variant from both parents. When both parents are carriers, each pregnancy has a 25% chance of resulting in HPS. Genetic counseling can help families understand testing and reproductive options.
How do doctors confirm HPS and identify the subtype?
Doctors use molecular genetic testing together with platelet imaging to confirm HPS and identify the subtype or affected protein complex. Knowing the subtype helps clinicians anticipate possible complications and plan appropriate long-term monitoring.
What symptoms and health problems can HPS cause?
HPS may cause reduced skin, hair, and eye pigmentation, involuntary eye movements, light sensitivity, and reduced sharpness of vision. Because platelets lack important storage granules, people may bruise easily or bleed for longer after an injury or procedure. Depending on the subtype, lung disease, gastrointestinal problems, low white blood cell counts, or neurologic symptoms may also occur.
Does everyone with HPS develop pulmonary fibrosis?
No. Pulmonary fibrosis is more often associated with HPS-1 and HPS-4, but people with the same subtype can have different experiences. Other subtypes generally have a lower risk of severe lung disease, although evidence is limited for the rarest subtypes, so individualized screening is important.
Which specialists should be involved in HPS care?
Care is often coordinated by hematologists, pulmonologists, and ophthalmologists, with medical genetics or genetic counseling for testing and family planning. The team can address bleeding precautions, vision needs, and surveillance for subtype-related complications. A clinic with experience treating rare disorders may also be helpful.

Questions For You

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Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is my (or my child’s) specific HPS subtype, and what genetic complex (like BLOC-3 or AP-3) does it involve?
  2. 2.Based on our subtype, what is the current monitoring plan for lung health, and at what age should we start regular screening?
  3. 3.Can you refer us to a hematologist who has experience managing platelet storage pool deficiencies for procedures or emergencies?
  4. 4.Are there specialized HPS clinics or research centers you collaborate with for rare disease management?
  5. 5.How many other HPS patients have you or this clinic treated?

References

References (18)
  1. 1

    The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome.

    Christensen S, Wagner L, Coleman MM, Appell D

    Chronic illness 2017; (13(1)):62-72 doi:10.1177/1742395316655854.

    PMID: 27358286
  2. 2

    Hermansky-Pudlak syndrome: Mutation update.

    Huizing M, Malicdan MCV, Wang JA, et al.

    Human mutation 2020; (41(3)):543-580 doi:10.1002/humu.23968.

    PMID: 31898847
  3. 3

    A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.

    Boeckelmann D, Wolter M, Käsmann-Kellner B, et al.

    Cells 2021; (10(10)) doi:10.3390/cells10102630.

    PMID: 34685610
  4. 4

    New insights into the pathogenesis of Hermansky-Pudlak syndrome.

    Li W, Hao CJ, Hao ZH, et al.

    Pigment cell & melanoma research 2022; (35(3)):290-302 doi:10.1111/pcmr.13030.

    PMID: 35129281
  5. 5

    Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.

    Okamura K, Abe Y, Araki Y, et al.

    Pigment cell & melanoma research 2018; (31(2)):267-276 doi:10.1111/pcmr.12662.

    PMID: 29054114
  6. 6

    Genetic variants associated with Hermansky-Pudlak syndrome.

    Merideth MA, Introne WJ, Wang JA, et al.

    Platelets 2020; (31(4)):544-547 doi:10.1080/09537104.2019.1663810.

    PMID: 32436471
  7. 7

    Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3.

    Lecchi A, La Marca S, Femia EA, et al.

    Platelets 2020; (31(7)):960-963 doi:10.1080/09537104.2019.1704716.

    PMID: 31880485
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    Hermansky-Pudlak Syndrome.

    De Jesus Rojas W, Young LR

    Seminars in respiratory and critical care medicine 2020; (41(2)):238-246 doi:10.1055/s-0040-1708088.

    PMID: 32279294
  9. 9

    After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.

    Serrano-González J, Montes-Rodríguez I, Renta JY, et al.

    Molecular genetics & genomic medicine 2024; (12(7)):e2493 doi:10.1002/mgg3.2493.

    PMID: 38994739
  10. 10

    Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

    Power B, Ferreira CR, Chen D, et al.

    Orphanet journal of rare diseases 2019; (14(1)):52 doi:10.1186/s13023-019-1023-7.

    PMID: 30791930
  11. 11

    Impairment of Renal Function in Hermansky-Pudlak Syndrome.

    Yokoyama T, O'Brien KJ, Franklin TM, et al.

    American journal of nephrology 2025; (56(1)):25-34 doi:10.1159/000541835.

    PMID: 39383848
  12. 12

    Hermansky-Pudlak Syndrome.

    Wang JY, Young LR

    Clinics in chest medicine 2025; (46(4)):701-710 doi:10.1016/j.ccm.2025.07.009.

    PMID: 41110930
  13. 13

    Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study.

    O'Brien KJ, Parisi X, Shelman NR, et al.

    Journal of internal medicine 2021; (290(1)):129-140 doi:10.1111/joim.13224.

    PMID: 33423334
  14. 14

    Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.

    Hengst M, Naehrlich L, Mahavadi P, et al.

    Orphanet journal of rare diseases 2018; (13(1)):42 doi:10.1186/s13023-018-0780-z.

    PMID: 29580292
  15. 15

    Hermansky-Pudlak Syndrome: Spectrum in Oman.

    Nazir HF, Al Sukaiti N, Khater D, et al.

    Journal of pediatric hematology/oncology 2023; (45(3)):e389-e394 doi:10.1097/MPH.0000000000002552.

    PMID: 36162005
  16. 16

    Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

    Michaud V, Lasseaux E, Plaisant C, et al.

    Pigment cell & melanoma research 2017; (30(6)):563-570 doi:10.1111/pcmr.12608.

    PMID: 28640947
  17. 17

    Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.

    Pennamen P, Tingaud-Sequeira A, Michaud V, et al.

    Pigment cell & melanoma research 2021; (34(1)):132-135 doi:10.1111/pcmr.12915.

    PMID: 32687635
  18. 18

    Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.

    Bastida JM, Morais S, Palma-Barqueros V, et al.

    Annals of medicine 2019; (51(2)):141-148 doi:10.1080/07853890.2019.1587498.

    PMID: 30990103

This page explains Hermansky-Pudlak syndrome, its inheritance, subtypes, and monitoring needs for informational purposes only and does not constitute medical advice. Your HPS specialists and genetic counselor should interpret your results and create a care plan for you or your child.