The Hermansky-Pudlak syndrome: Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time

Dorp, D. B. van; Wijermans, Pierre W.; Meire, Françoise; Vrensen, Gijs F.J.M.

doi:10.3109/13816819009020985

Cited by 22 publications

(16 citation statements)

References 21 publications

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“…While some found merit, others were disappointed [56, 73, 74]. Although testing with DDVAP prior to intervention has been recommended, at least 1 case demonstrates that effectiveness can be quite variable even within the same individual [55].…”

Section: Treatmentmentioning

confidence: 99%

“…Another study, employing molecular characterization, showed that 15 of 19 Puerto Rican children with HPS1 gene mutation (present in >50% of Puerto Ricans with HPS) and 2 of 4 without HPS1 gene mutation failed to improve their bleeding times after test doses of DDAVP. Previous bleeding studies in Dutch and Belgian patients have been criticized for failing to identify mutation types, highlighting the complexity of determining effectual treatment [54, 73]. …”

Section: Treatmentmentioning

confidence: 99%

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Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

et al. 2006

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Hermansky-Pudlak syndrome (HPS) is a rare heterogeneously inherited autosomal recessive group of disorders presenting with oculocutaneous albinism, bleeding diathesis and pulmonary disease. HPS is thought to occur as a consequence of disturbed formation or trafficking of intracellular vesicles, most importantly, melanosomes, platelet dense granules and lysosomes. The latter finding, in particular, contributes much to the morbidity associated with the disease, as ceroid lipofuscin deposits in lysosomes affect many organ systems. This is especially problematic in the lungs where it is often associated with pulmonary fibrosis and premature death. Currently, there are 7 known HPS genes in humans. In the mouse, at least 16 known HPS genes produce HPS-mutant phenotypes. The HPS gene mutation is considered to be one of the most prevalent single-gene disorders in northwest Puerto Rico, home to the largest cohort of known patients. In HPS, interventions addressing the bleeding diathesis and pulmonary fibrosis are often disappointingly ineffectual. Pirfenidone, a novel compound with documented anti-inflammatory, antioxidant and antifibrotic effects, appears to hold promise in delaying or preventing fibrosis. To date, there has been one successful lung transplant performed on a patient with HPS. We present a patient with HPS and review the current literature on our understanding of this rare disorder.

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Section: Treatmentmentioning

confidence: 99%

Section: Treatmentmentioning

confidence: 99%

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

et al. 2006

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“…However, in patients lacking this mutation, the diagnosis is made by electron microscopy showing absence of platelet dense bodies, or by platelet studies showing absence of a secondary aggregation response in a hypopigmented individual. Another reason to make the diagnosis of HPS early is to initiate avoidance of aspirinlike products and prophylactic use of desmopressin to shorten the bleeding time, 43 thus reducing the likelihood of severe bleeding episodes. In cases of emergency trauma or surgery, families and physicians should be aware of the platelet aggregation defect, and medical alert bracelets can be beneficial.…”

Section: Commentmentioning

confidence: 99%

Dermatologic Manifestations of Hermansky-Pudlak Syndrome in Patients With and Without a 16–Base Pair Duplication in the HPS1 Gene

Toro¹,

Turner²,

Gahl³

1999

Arch Dermatol

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“…There remains limited data for the routine use of DDAVP for HPS patients undergoing surgery. In terms of bleeding time, patients with HPS have shown a variable response to DDAVP [6] [7]. Similarly, the prophylactic administration of DDAVP to a patient prior to subsequent obstetric deliveries resulted in inconsistent effectiveness [8].…”

Section: Discussionmentioning

confidence: 99%

Anesthetic Management of a Patient with Hermansky-Pudlak Syndrome

Misra¹

2015

OJAnes

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Hermansky-Pudlak Syndrome (HPS) is a rare genetic condition characterized by platelet function abnormalities and oculocutaneous albinism. Other systemic manifestations of the disease include pulmonary fibrosis, granulomatous colitis, impaired renal function, and cardiomyopathy. Due to the systemic extent of the disease, HPS has multiple anesthetic concerns and requires a detailed preoperative evaluation and close perioperative monitoring.

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The Hermansky-Pudlak syndrome: Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time

Cited by 22 publications

References 21 publications

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

Dermatologic Manifestations of Hermansky-Pudlak Syndrome in Patients With and Without a 16–Base Pair Duplication in the HPS1 Gene

Anesthetic Management of a Patient with Hermansky-Pudlak Syndrome

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