Hermansky–Pudlak syndrome
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| Hermansky–Pudlak syndrome | |
|---|---|
| File:Autosomal recessive - en.svg | |
| Synonyms | HPS |
| Pronounce | |
| 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]
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]
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]
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]
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]
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]
References[edit]
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