What is the focus of clinical history in the evaluation of Hermansky-Pudlak syndrome (HPS)?

Updated: Dec 13, 2019
  • Author: Jaclyn Scholtz, MD; Chief Editor: Dirk M Elston, MD  more...
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Answer

Patients with Hermansky-Pudlak syndrome are prone to skin cancers; thus, they should be asked about any new skin lesions. A history of previous skin biopsies, skin cancer, sun exposure, and sunblock application should be obtained from patients.

Bleeding diathesis must be investigated. Persons with Hermansky-Pudlak syndrome may have a tendency to bruise easily or to experience frequent nosebleeds or prolonged bleeding. Epistaxis is the most frequent hemorrhagic manifestation. Patients with Hermansky-Pudlak syndrome can have unusual bleeding episodes (eg, heavy menstrual bleeding, bleeding with dental procedures). Patients should be asked about medications that affect bleeding and, thus, should be queried about the use of aspirin and aspirin derivatives. Persons should be asked if their children or parents bleed easily.

Women with Hermansky-Pudlak syndrome should be asked about pregnancies and pregnancy complications, menometrorrhagia, abnormal uterine bleeding, and gynecologic surgery. Therapy-refractory menorrhagia has been noted as the first manifestation of Hermansky-Pudlak syndrome. [27]

Family history is important in understanding Hermansky-Pudlak syndrome. Patients should be asked where their families originated. Puerto Rican ancestry is important and must be investigated. Parental consanguinity and family incidence of Hermansky-Pudlak syndrome need to be reviewed with patients.

In 2003, Iannello et al [28] described a new familial Hermansky-Pudlak syndrome clinical variant in 2 sisters, one aged 6 years and the other aged 23 years. They expressed the common symptoms of Hermansky-Pudlak syndrome, but they also had diffuse interstitial pulmonary disease as well as augmented platelet aggregation. Additionally, they were very susceptible to bacterial infections.

Interestingly, Iannello et al [28] observed a urinary tract abnormality in a younger sister with Hermansky-Pudlak syndrome and a porencephalic cyst in an older sister with Hermansky-Pudlak syndrome. These developmental defects have been reported in persons with Cross syndrome (oculocerebral hypopigmentation syndrome), which is a syndrome that has evaded precise definition. These sisters seemed to have an overlapping of the phenotypic manifestations of different rare syndromes. The presence of ceroidlike autofluorescent material in urinary sediment, combined with the histologic aspects and the autofluorescence of oral mucosa biopsy specimens, was consistent with a ceroidlike lipofuscin storage problem.

Enders et al [29] noted lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.

Interestingly, Hermansky-Pudlak syndrome is a bleeding defect, in part, but late-onset menstrual bleeding has been noted. [30]

In Hermansky-Pudlak syndrome type IV, which involves (BLOC)-3, impacts healthy subjects' working memory and impacts function deficits in those with schizophrenia; this is not surprising because HPS is a neural disease in part. [31]


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