On this page
Hermansky-Pudlak syndrome
This syndrome is inherited and causes reduced pigmentation (albinism), easy bruising and bleeding, and can sometimes lead to serious complications in the lungs or bowel. It typically affects individuals from birth.
Overview
Hermansky-Pudlak syndrome (HPS) is a group of rare inherited conditions characterised by oculocutaneous albinism, which means it affects the skin, hair, and eyes, and a platelet storage pool deficiency, leading to problems with blood clotting. People with HPS often experience easy bruising and prolonged bleeding. Some types of HPS can also affect other parts of the body, potentially causing lung fibrosis (scarring of the lungs) or inflammatory bowel disease [PMID:30138977]. This syndrome is found globally but is more common in certain populations, such as those of Puerto Rican descent.
Symptoms & clinical features
The main symptoms of Hermansky-Pudlak syndrome include reduced pigmentation, affecting the skin, hair, and eyes. This can range from very fair skin and hair to some residual colour. Eye symptoms typically include light sensitivity (photophobia), involuntary eye movements (nystagmus), and reduced vision. These ocular features are characteristic of oculocutaneous albinism.
Bleeding problems are another key feature of HPS. Individuals may bruise easily, have nosebleeds, or experience prolonged bleeding after injuries, surgery, or dental work. This is due to a defect in platelets, which are small blood cells essential for clotting [PMID:19363162]. In some forms of HPS, affected individuals may also develop pulmonary fibrosis, a progressive lung disease, or granulomatous colitis, a type of inflammatory bowel disease similar to Crohn's disease.
Video: Genetics 101
Affected organs
Hermansky-Pudlak syndrome primarily affects several key organ systems. The skin, hair, and eyes are affected by reduced melanin pigment. The blood is affected through dysfunctional platelets, which are crucial for normal blood clotting. In certain types of HPS, the lungs can be affected, leading to pulmonary fibrosis, which causes scarring and stiffening of lung tissue. The gastrointestinal tract, particularly the bowel, can also be impacted in some forms, leading to inflammatory bowel disease. Other organs, such as the kidneys or heart, are not typically directly affected by HPS.
Risks & severity
The severity of Hermansky-Pudlak syndrome can vary significantly depending on the specific genetic type. All individuals with HPS experience oculocutaneous albinism and bleeding problems, which generally persist throughout life. The visual impairment associated with albinism does not typically worsen over time but requires ongoing management.
More severe complications can arise in specific HPS types. For instance, pulmonary fibrosis is a serious risk in some forms, often developing in adulthood and potentially leading to respiratory failure. Inflammatory bowel disease can also cause significant health issues. While the exact prevalence is not well established across all types, HPS affects approximately 1 in 500,000 people globally, but is more common in populations such as those in Puerto Rico, where it affects about 1 in 1,800 individuals [PMID:16584281].
Genetic causes
Hermansky-Pudlak syndrome is caused by pathogenic changes in specific genes that are involved in the formation and function of lysosomes and related organelles, such as melanosomes and platelet dense granules. While our reference data does not specify the exact genes, these genes typically encode proteins essential for the normal development of these cellular structures.
Melanosomes are responsible for producing and storing melanin, the pigment that gives colour to skin, hair, and eyes. Pathogenic variants disrupt this process, leading to the characteristic albinism. Platelet dense granules are crucial for normal blood clotting; their dysfunction results in the bleeding tendency seen in HPS. The specific gene affected determines the type of HPS and the range of symptoms experienced, including whether lung disease or bowel inflammation will occur.
Inheritance pattern
Hermansky-Pudlak syndrome is inherited in an autosomal recessive pattern. This means that a person must inherit two altered copies of the same gene, one from each parent, to develop the condition. Individuals who inherit only one altered copy of the gene are called carriers. Carriers typically do not show symptoms of the condition but can pass the altered gene on to their children.
If both parents are carriers of the same altered gene, there is a 25% chance with each pregnancy that their child will inherit two altered copies and develop HPS. There is a 50% chance the child will be a carrier, and a 25% chance the child will inherit two unaffected copies of the gene and not be affected or a carrier.
When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.
Diagnosis & testing
Diagnosis of Hermansky-Pudlak syndrome is typically based on clinical symptoms, including the presence of oculocutaneous albinism and a history of easy bruising or prolonged bleeding. Further investigations may include an eye examination to identify features like nystagmus and reduced vision, and tests to assess platelet function. Specific genetic testing, involving blood samples, can confirm the diagnosis by identifying pathogenic changes in the causative genes.
In the UK, if HPS is suspected, a referral to a clinical genetics service or a specialist haematology/ophthalmology clinic would typically be made. Genetic testing falls under the NHS Genomic Medicine Service (GMS) pathways. Relevant R-codes for genetic testing may include those for albinism or inherited bleeding disorders. A genetic counsellor can help explain the testing process and implications.
Management & lifestyle
Management for Hermansky-Pudlak syndrome focuses on addressing symptoms and preventing complications. For the albinism, management includes protecting skin from sun exposure, using specialised eyewear for light sensitivity, and low vision aids as needed. Bleeding problems are managed by avoiding certain medications that can worsen bleeding and by careful planning for surgeries or dental procedures. Desmopressin or platelet transfusions may be considered in some cases to improve clotting for specific situations [PMID:19363162].
For those at risk of pulmonary fibrosis or inflammatory bowel disease, regular monitoring by specialists (e.g., respiratory physicians, gastroenterologists) is crucial for early detection and management. There is currently no cure for HPS, but treatments aim to alleviate symptoms and improve quality of life. NHS care pathways involve a multidisciplinary team, potentially including ophthalmologists, haematologists, dermatologists, respiratory specialists, and genetic counsellors.
UK care pathway
In the UK, individuals suspected of having Hermansky-Pudlak syndrome would typically be referred by their GP to a specialist, often a clinical geneticist, ophthalmologist, or haematologist. Diagnosis is confirmed through genetic testing, which is available through the NHS Genomic Medicine Service. This testing will be ordered by a clinician and is guided by national guidelines and R-codes where applicable. Following a diagnosis, a genetic counsellor can provide essential support and information to the individual and their family regarding the condition, its inheritance, and implications for relatives.
Frequently asked questions
What does 'autosomal recessive' inheritance mean for my family?
Autosomal recessive inheritance means that you inherited an altered gene from both of your parents. Your parents are typically carriers, meaning they have one altered copy and one working copy of the gene, and usually do not have symptoms. For each of your future children, there is a 25% chance they will also have the condition.
Will my vision get worse over time if I have Hermansky-Pudlak syndrome?
The visual impairment associated with the albinism in Hermansky-Pudlak syndrome typically does not worsen progressively over time. However, regular eye check-ups are important to manage symptoms like light sensitivity and to ensure appropriate use of vision aids.
Can I prevent the bleeding problems associated with Hermansky-Pudlak syndrome?
You cannot prevent the underlying platelet defect, but you can manage the risk of bleeding. This involves avoiding certain medications that thin the blood, taking precautions during activities that might cause injury, and informing healthcare professionals about your condition before any procedures.
Are there specific treatments for the lung or bowel problems in Hermansky-Pudlak syndrome?
If you develop pulmonary fibrosis or inflammatory bowel disease as part of your Hermansky-Pudlak syndrome, your care will involve specialist doctors. Treatments will focus on managing the symptoms of these specific conditions, which may include medications to slow disease progression or reduce inflammation, depending on the exact issue.
How common is Hermansky-Pudlak syndrome?
Hermansky-Pudlak syndrome is considered rare, affecting about 1 in 500,000 people globally. However, it is more common in some specific populations, such as individuals of Puerto Rican descent, where the prevalence can be as high as 1 in 1,800.
References
- El-Chemaly S, Young LR. Hermansky-Pudlak Syndrome. Clinics in chest medicine. 2016. PMID: 27514596
- De Jesus Rojas W, Young LR. Hermansky-Pudlak Syndrome. Seminars in respiratory and critical care medicine. 2020. PMID: 32279294
- François J. Albinism. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde. 1979. PMID: 108645
- Osorio Aira S, Roig Figueroa V, López Pedreira MAR. Hermansky-Pudlak syndrome. Medicina clinica. 2021. PMID: 32843216
- Wang JY, Young LR. Hermansky-Pudlak Syndrome. Clinics in chest medicine. 2025. PMID: 41110930
- Velázquez-Díaz P, Nakajima E, Sorkhdini P. Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics. Frontiers in pharmacology. 2021. PMID: 33841163
- Sanderson IR. Unusual colitides. Bailliere's clinical gastroenterology. 1994. PMID: 8003742
- Sandrock-Lang K, Wentzell R, Santoso S. Inherited platelet disorders. Hamostaseologie. 2016. PMID: 25707719