Living with Hermansky-Pudlak syndrome
An inherited condition with very light skin, hair, and eyes, vision problems, easy bruising, and sometimes lung scarring.
Understanding Hermansky-Pudlak syndrome
People usually have fair skin and white or light hair and a higher risk of skin damage from sun. Vision problems, such as reduced vision, fast eye movements (nystagmus), and light sensitivity, are common and usually stay stable after early childhood. Blood clotting problems cause easy bruising and prolonged bleeding. Some people develop lung scarring (pulmonary fibrosis). There are nine types.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Light skin, hair, and eye color (albinism)
- Fast eye movements (nystagmus)
- Sensitivity to light
- Reduced vision
- Easy bruising and nosebleeds
- Long bleeding
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Hermansky-Pudlak Syndrome Network, Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Hermansky-Pudlak Syndrome Network, Inc.
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Hermansky-Pudlak Syndrome Network, Inc. and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition, and the type depends on the gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: albinism with hemorrhagic diathesis; albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells; alpha storage pool disease; hermansky pudlak syndrome; hps; hps (hermansky pudlak syndrome)
Patient organizations
- Hermansky-Pudlak Syndrome Network, Inc.Hermansky-Pudlak syndrome · United States
- The National Organization of Albinism and Hypopigmentation (NOAH)Hermansky-Pudlak syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hermansky-Pudlak syndrome.
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