Pathophysiology
The mechanism of Hermansky–Pudlak syndrome indicates that platelets in affected individuals accumulate abnormally with thrombin, epinephrine, and adenosine diphosphate, furthermore platelets in these individuals have a lower amount of dense bodies

Diagnosis
The diagnosis of HPS is established by clinical findings of hypopigmentation
of the skin and hair, characteristic eye findings, and demonstration of absent
dense bodies on whole mount electron microscopy of platelets. Molecular
genetic testing of the HPS1 gene is available on a clinical basis for
individuals from northwestern Puerto Rico. Molecular testing of the HPS3 gene
is available on a clinical basis for individuals of central Puerto Rican or
Ashkenazi Jewish heritage. Sequence analysis is available on a clinical basis
for mutations in HPS1 and HPS4. Diagnosis of individuals with other types of
HPS is available on a research basis only. Treatment
While there is no cure for HPS, treatment for chronic hemorrhages associated with the disorder includes therapy with vitamin E and the antidiuretic dDAVP. Considerations for patients
A preoperative pulmonology consultation is needed. The anesthesia team should
be aware that patients may have postoperative pulmonary complications as part
of the syndrome.Preoperative hematology consultation is advisable prior to elective ocular
surgeries. Since patients with the syndrome have bleeding tendencies,
intraoperative, perioperative, and postoperative hemorrhages should be
prevented and treated. If platelet aggregation improves with desmopressin, it
may be administered in the preoperative period. However, sometimes
plasmapheresis is needed in the perioperative period.Ophthalmologists should try to avoid retrobulbar blocks in patients with the
syndrome. Whenever possible, patients with HPS may benefit from general
endotracheal anesthesia. Phacoemulsification may help prevent intraoperative
and postoperative bleeding in patients with the syndrome.
Prolonged bleeding
has been reported following strabismus surgery in patients with the syndrome. Prognosis
The course of HPS has been mild in rare instances of the disorder, however, the general prognosis is still considered to be poor.The disease can cause dysfunctions of the lungs, intestine, kidneys, and heart. The major complication of most forms of the disorder is pulmonary fibrosis, which typically exhibits in patients ages 40–50 years. This is a fatal complication seen in many forms of HPS, and is the usual cause of death from the disorder. HPS patients who develop pulmonary fibrosis typically have type 1 or type 4. Research
HPS is one of the rare lung diseases currently being studied by The Rare Lung Diseases Consortium (RLDC). The RLDC is part of the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), of the National Center for Advancing Translational Sciences (NCATS). The RLDC is dedicated to developing new diagnostics and therapeutics for patients with rare lung diseases, through collaboration between the NIH, patient organizations and clinical investigators. Eponym
It is named for František Heřmanský (1916–1980) and Pavel Pudlák (1927–1993). See also
Biogenesis of lysosome-related organelles complex 1
List of cutaneous conditions

References
External links
GeneReviews/NCBI/NIH/UW entry on Hermansky-Pudlak Syndrome