Symptoma

Hermansky-Pudlak Syndrome Type 2

HPS2

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]

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]

  • Inguinal Lesions

    The patient was treated with intravenous antibiotics for 2 weeks, with significant improvement of the inguinal lesion. The patient's colitis and perianal disease continue to be quiescent on scheduled infliximab treatments. [journals.lww.com]

  • Constitutional Symptom

    Symptoms may include abdominal pain and bloody diarrhea with possible perineal involvement, with mild or no constitutional symptoms (2). The colonoscopic examination commonly reveals multiple scattered superficial or deep ulcers with pseudopolyps. [journals.lww.com]

  • Increased Susceptibility to Infections

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

  • Developmental Delay

    Subject P3 was a male infant of healthy unrelated English Caucasian parents who presented at 12 months with failure to thrive, developmental delay, oculocutaneous albinism and neutropenia (0.2 10 9 /L). [haematologica.org]

  • 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]

  • 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]

  • Decreased Forced Vital Capacity

    Lung function tests showed significantly decreased forced vital capacity (FVC) and forced expiratory volume in one second (FEV1) values, whereas the value of the FEV1/FVC ratio increased, indicating a severe restrictive ventilatory functional disturbance [journals.lww.com]

No specific antifibrotic treatment is available in children. [ojrd.biomedcentral.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]

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]

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

"Hermansky-Pudlak Syndrome: Background, Pathophysiology, Epidemiology". 13 June 2017. "Hermansky-Pudlak Syndrome". Hermansky–Pudlak Syndrome. University of Washington, Seattle. 1993. Retrieved 24 November 2008. [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 16 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 17 Assessment of Vascular Event Prevention [malacards.org]

Phacoemulsification may help prevent intraoperative and postoperative bleeding in patients with the syndrome. [en.wikipedia.org]