In the present case series 1 of the patients was a 17-year-old boy who presented with a 3-month history of abdominal pain and malaise. He had an exploratory laparotomy for presumed ruptured appendix and required a colectomy. [journals.lww.com]

Patients with Hermansky–Pudlak syndrome type 2 (HPS2) present with oculocutaneous albinism, nystagmus, prolonged bleeding time, and increased susceptibility to infections. [tandfonline.com]

Case Report: A five month old female infant presented with respiratory sepsis requiring ventilation. Clinical examination revealed occulocutaneous albinism ( Figure 1 ) and hepatosplenomegaly. [bloodjournal.org]

Case Report: A five month old female infant presented with respiratory sepsis requiring ventilation. Clinical examination revealed occulocutaneous albinism (Figure 1) and hepatosplenomegaly. [ashpublications.org]

• Splenomegaly

  […] more ] 0002718 Recurrent otitis media Recurrent middle ear infection 0000403 Recurrent pneumonia 0006532 Reduced natural killer cell activity 0012178 Reduced natural killer cell count 0040218 Reduced visual acuity Decreased clarity of vision 0007663 Splenomegaly [rarediseases.info.nih.gov]

• Recurrent Bacterial Infection

  […] abscess formation 0002722 Recurrent bacterial infections Bacterial infections, recurrent Frequent bacterial infections Increased susceptibility to bacterial infections Recurrent major bacterial infections [ more ] 0002718 Recurrent otitis media Recurrent [rarediseases.info.nih.gov]

• Easy Bruising

  The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. [flybase.org]

  HPS patients may experience frequent epistaxis, easy bruising, and prolonged bleeding with injury or surgery. [preventiongenetics.com]

  bruising of soft tissues, epistaxis, prolonged bleeding after dental extraction, surgery or childbirth and, in HPS-2 (see this term), neutropenia and recurrent infections. [orpha.net]

  If a child with albinism also shows easy bruising or unusual bleeding then they may have Hermansky Pudlak syndrome. Standard tests of blood clotting and bleeding times may however be normal. [ssc.education.ed.ac.uk]

  Signs & Symptoms The first symptoms of HPS often include easy bruising, bleeding gums, nose bleeds, and excessive bleeding after surgery or accidents. [rarediseases.org]

• Vascular Disease

  Vascular Disease or Diabetes: A Secondary Analysis of 3 Randomized Clinical Trials. 61 Offer A...Heart Protection Study (HPS), Study of the Effectiveness of Additional Reductions in Cholesterol and Homocysteine (SEARCH), and Treatment of HDL (High-Density [malacards.org]

• Visual Acuity Decreased

  Clinical description HPS-2 presents with features of HPS including oculocutaneous albinisim, reduced visual acuity, horizontal nystagmus, easy bruising of soft tissues, epistaxis, and prolonged bleeding after dental extraction, surgery or childbirth. [rarediseases.info.nih.gov]

• Pendular Nystagmus

  She presented at ten weeks with pendular nystagmus and failure to fix and follow. She was noted to have albinoid fundi, hypopigmented skin and neutropenia. [haematologica.org]

Hence, the knowledge regarding HPS and its workup is essential. Early screening of HPS patients for PF and intervention with long-term oxygen therapy (LTOT) and antifibrotics will reduce the morbidity. [jacpjournal.org]

• Dyslipidemia

  […] type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. 61 de Boer M...Kuijpers TW 28585318 2017 26 AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF DYSLIPIDEMIA [malacards.org]

• Staphylococcus Aureus

  aureus, Klebsiella pneumoniae and Clostridium difficile in single isolation rooms. 61 Ali S...Wilson AP 26944907 2016 32 Impaired Lysosomal Integral Membrane Protein 2-dependent Peroxiredoxin 6 Delivery to Lamellar Bodies Accounts for Altered Alveolar [malacards.org]

• Absent A-Waves

  With 30 μM adrenaline, platelets from P3 showed absent secondary wave aggregation ( Figure 3B ). Platelet uptake of [ 3 H] 5-HT was markedly reduced compared to healthy donor control platelets ( Figure 3C ). [haematologica.org]

Accurate diagnosis of the HPS subtype has important prognostic and treatment implications. [orpha.net]

All episodes were resolved with proper antibiotic and r-HuG-CSF treatment,. without requiring HLH treatment. Genetic analysis revealed homozygous nonsense mutation in exon 18 of the AP3B1 gene. [adc.bmj.com]

Diagnosis of individuals with other types of HPS is available on a research basis only. [8] Treatment [ edit ] While there is no cure for HPS, treatment for chronic hemorrhages associated with the disorder includes therapy with vitamin E and the antidiuretic [en.wikipedia.org]

Prognosis The course of HPS-3, HPS-5 and HPS-6 (or HPS without PF as a complication; see this term) is mild with no pulmonary involvement. Prognosis of HPS-1 and HPS-4 is poor as PF is fatal. [orpha.net]

most cases of HPS are fatal and the prognosis is generally poor. [dovemed.com]

Prolonged bleeding has been reported following strabismus surgery in patients with the syndrome. [10] Prognosis [ edit ] The course of HPS has been mild in rare instances of the disorder, [11] however, the general prognosis is still considered to be poor [en.wikipedia.org]

Etiology HPS is characterized by a storage pool deficiency of platelets and can be caused by mutations in one of several genes: HPS1 (10q23.1), AP3B1 (5q14.1; causing HPS-2), HPS3 (3q24), HPS4 (22q11.2-q12.2), HPS5 (11p15-p13), HPS6 (10q24.32), DTNBP1 [orpha.net]

(Etiology) Hermansky-Pudlak Syndrome is the result of defective metabolic reactions with complex genetic mutations. [dovemed.com]

Etiology HPS-2 is caused by mutations in the AP3B1gene (5q14.1) and is transmitted in an autosomal recessive manner. The gene product is the Beta 3A subunit of adaptor protein 3 (AP3), involved in vesicle formation and protein sorting. [rarediseases.info.nih.gov]

Overall, the epidemiology, natural history, clinical heterogeneity, and the best approach to pulmonary monitoring this population remain unclear. [thoracic.org]

Summary Epidemiology Prevalence is estimated at 1/500,000 - 1/1,000,000 in non-Puerto Rican populations. In northwestern Puerto Rico the prevalence of HPS-1 is 1/1,800. [orpha.net]

^ "Hermansky-Pudlak Syndrome: Background, Pathophysiology, Epidemiology". 13 June 2017. ^ "Hermansky-Pudlak Syndrome". Hermansky–Pudlak Syndrome. University of Washington, Seattle. 1993. [en.wikipedia.org]

Retrieved 24 November 2008. ^ "Hermansky-Pudlak Syndrome: Background, Pathophysiology, Epidemiology". 13 June 2017. ^ "Hermansky-Pudlak Syndrome". Hermansky–Pudlak Syndrome. University of Washington, Seattle. 1993. [en.wikipedia.org]

The location of the deletion at the very C-terminal end may prevent a complete loss of the HPS2 protein leading to a less pronounced severity of immunodeficiency than in other HPS2 patients. [tandfonline.com]

[…] male fertility. 61 Jing R...Feng L 30786955 2019 19 In Vitro Disease Modeling of Hermansky-Pudlak Syndrome Type 2 Using Human Induced Pluripotent Stem Cell-Derived Alveolar Organoids. 61 Korogi Y...Hirai T 30773483 2019 20 Assessment of Vascular Event Prevention [malacards.org]

Currently, there are no specific methods or guidelines to prevent Hermansky-Pudlak Syndrome genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy [dovemed.com]