Hermansky–Pudlak syndrome

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Hermansky–Pudlak syndrome
Autosomal recessive - en.svg
Synonyms HPS
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Specialty Genetics, Hematology
Symptoms Albinism, bleeding disorder, pulmonary fibrosis, colitis
Complications N/A
Onset Varies
Duration Lifelong
Types N/A
Causes Mutations in one of several genes
Risks
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis Chediak–Higashi syndrome, Griscelli syndrome
Prevention N/A
Treatment Supportive care, lung transplantation
Medication
Prognosis Variable, depends on complications
Frequency Rare
Deaths


Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality, and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).

Signs and Symptoms[edit | edit source]

The symptoms of Hermansky-Pudlak syndrome can vary greatly from person to person. However, most individuals with this condition have oculocutaneous albinism, which causes vision problems and reduces the color of the skin, hair, and eyes. People with this condition also have a bleeding disorder, which makes it difficult for the blood to clot and stop bleeding.

Causes[edit | edit source]

Hermansky-Pudlak syndrome is caused by mutations in one of at least nine different genes. These genes are involved in the formation and function of specialized compartments within cells called lysosomes and melanosomes.

Diagnosis[edit | edit source]

Diagnosis of Hermansky-Pudlak syndrome is based on the clinical findings of oculocutaneous albinism and a bleeding diathesis. Genetic testing can confirm the diagnosis.

Treatment[edit | edit source]

Treatment of Hermansky-Pudlak syndrome is symptomatic and supportive. It may include avoidance of sun exposure, use of protective eyewear, and treatment of bleeding episodes with desmopressin or antifibrinolytic agents.

Prognosis[edit | edit source]

The prognosis for individuals with Hermansky-Pudlak syndrome varies. Some individuals may have a normal lifespan with few related health issues, while others may have life-threatening complications such as pulmonary fibrosis.

See Also[edit | edit source]

References[edit | edit source]

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Contributors: Prab R. Tumpati, MD