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Hermansky-Pudlak syndrome with pulmonary fibrosis

MedGen UID:
1843223
•Concept ID:
C5679834
•
Disease or Syndrome
Synonyms: Hermansky-Pudlak syndrome due to BLOC-3 deficiency; HPS with pulmonary fibrosis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016501
Orphanet: ORPHA231500

Definition

Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hermansky-Pudlak syndrome with pulmonary fibrosis

Professional guidelines

PubMed

The efficacy and safety of pirfenidone in the treatment of HPS-related pulmonary fibrosis and Idiopathic pulmonary fibrosis: a systematic review and meta-analysis.
Ma YJ, Zhang Q, Wang CX, Wu W
Eur Rev Med Pharmacol Sci 2022 Nov;26(22):8411-8424. doi: 10.26355/eurrev_202211_30377. PMID: 36459024
Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.
O'Brien KJ, Introne WJ, Akal O, Akal T, Barbu A, McGowan MP, Merideth MA, Seward SL Jr, Gahl WA, Gochuico BR
Mol Genet Metab 2018 Sep;125(1-2):168-173. Epub 2018 Jul 23 doi: 10.1016/j.ymgme.2018.07.012. PMID: 30055995
Pirfenidone for the treatment of idiopathic pulmonary fibrosis.
Antoniu SA
Expert Opin Investig Drugs 2006 Jul;15(7):823-8. doi: 10.1517/13543784.15.7.823. PMID: 16787145

Recent clinical studies

Etiology

Rare genetic interstitial lung diseases: a pictorial essay.
Borie R, Berteloot L, Kannengiesser C, Griese M, Cazes A, Crestani B, Hadchouel A, Debray MP
Eur Respir Rev 2024 Oct;33(174) Epub 2024 Nov 13 doi: 10.1183/16000617.0101-2024. PMID: 39537246Free PMC Article
Genetic variants associated with Hermansky-Pudlak syndrome.
Merideth MA, Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR
Platelets 2020 May 18;31(4):544-547. Epub 2019 Sep 5 doi: 10.1080/09537104.2019.1663810. PMID: 32436471Free PMC Article
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article
Venovenous Extracorporeal Membrane Oxygenation With Atrial Septostomy as a Bridge to Lung Transplantation.
Kon ZN, Pasrija C, Shah A, Griffith BP, Garcia JP
Ann Thorac Surg 2016 Mar;101(3):1166-9. doi: 10.1016/j.athoracsur.2015.03.127. PMID: 26897198
Hermansky-Pudlak syndrome: vesicle formation from yeast to man.
Huizing M, Boissy RE, Gahl WA
Pigment Cell Res 2002 Dec;15(6):405-19. doi: 10.1034/j.1600-0749.2002.02074.x. PMID: 12453182

Diagnosis

Hermansky-Pudlak Syndrome: Spectrum in Oman.
Nazir HF, Al Sukaiti N, Khater D, Elbeshlawy I, Hassanein N
J Pediatr Hematol Oncol 2023 Apr 1;45(3):e389-e394. Epub 2022 Sep 21 doi: 10.1097/MPH.0000000000002552. PMID: 36162005
Hermansky-Pudlak Syndrome.
De Jesus Rojas W, Young LR
Semin Respir Crit Care Med 2020 Apr;41(2):238-246. Epub 2020 Apr 12 doi: 10.1055/s-0040-1708088. PMID: 32279294
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J
Ann Am Thorac Soc 2016 Oct;13(10):1839-1846. doi: 10.1513/AnnalsATS.201603-186FR. PMID: 27529121Free PMC Article
Venovenous Extracorporeal Membrane Oxygenation With Atrial Septostomy as a Bridge to Lung Transplantation.
Kon ZN, Pasrija C, Shah A, Griffith BP, Garcia JP
Ann Thorac Surg 2016 Mar;101(3):1166-9. doi: 10.1016/j.athoracsur.2015.03.127. PMID: 26897198

Therapy

Genetic variants associated with Hermansky-Pudlak syndrome.
Merideth MA, Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR
Platelets 2020 May 18;31(4):544-547. Epub 2019 Sep 5 doi: 10.1080/09537104.2019.1663810. PMID: 32436471Free PMC Article
Systematic review of drug effects in humans and models with surfactant-processing disease.
Klay D, Hoffman TW, Harmsze AM, Grutters JC, van Moorsel CHM
Eur Respir Rev 2018 Sep 30;27(149) Epub 2018 Jul 11 doi: 10.1183/16000617.0135-2017. PMID: 29997245Free PMC Article
Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.
El-Chemaly S, O'Brien KJ, Nathan SD, Weinhouse GL, Goldberg HJ, Connors JM, Cui Y, Astor TL, Camp PC Jr, Rosas IO, Lemma M, Speransky V, Merideth MA, Gahl WA, Gochuico BR
PLoS One 2018;13(3):e0194193. Epub 2018 Mar 16 doi: 10.1371/journal.pone.0194193. PMID: 29547626Free PMC Article
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J
Ann Am Thorac Soc 2016 Oct;13(10):1839-1846. doi: 10.1513/AnnalsATS.201603-186FR. PMID: 27529121Free PMC Article
29-year-old man presenting with progressive dyspnea, oculocutaneous albinism, and epistaxis.
Asefi G, Lahiji A, Kamangar N
Chest 2015 Jun;147(6):e224-e227. doi: 10.1378/chest.14-1540. PMID: 26033137

Prognosis

Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.
Yokoyama T, Gochuico BR
Eur Respir Rev 2021 Mar 31;30(159) Epub 2021 Feb 2 doi: 10.1183/16000617.0193-2020. PMID: 33536261Free PMC Article
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article
Venovenous Extracorporeal Membrane Oxygenation With Atrial Septostomy as a Bridge to Lung Transplantation.
Kon ZN, Pasrija C, Shah A, Griffith BP, Garcia JP
Ann Thorac Surg 2016 Mar;101(3):1166-9. doi: 10.1016/j.athoracsur.2015.03.127. PMID: 26897198
Hermansky-Pudlak syndrome: high-resolution computed tomography findings and literature review.
Bin Saeedan M, Faheem Mohammed S, Mohammed TL
Curr Probl Diagn Radiol 2015 Jul-Aug;44(4):383-5. Epub 2015 Jan 30 doi: 10.1067/j.cpradiol.2015.01.003. PMID: 25728501
Hermansky-Pudlak syndrome with diffuse pulmonary fibrosis: radiologic-pathologic correlation.
Shimizu K, Matsumoto T, Miura G, Shimizu A, Awaya H, Matsunaga N, Ariyoshi I, Isiglo K
J Comput Assist Tomogr 1998 Mar-Apr;22(2):249-51. doi: 10.1097/00004728-199803000-00017. PMID: 9530389

Clinical prediction guides

Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article
Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.
O'Brien KJ, Introne WJ, Akal O, Akal T, Barbu A, McGowan MP, Merideth MA, Seward SL Jr, Gahl WA, Gochuico BR
Mol Genet Metab 2018 Sep;125(1-2):168-173. Epub 2018 Jul 23 doi: 10.1016/j.ymgme.2018.07.012. PMID: 30055995
MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro.
Ahuja S, Knudsen L, Chillappagari S, Henneke I, Ruppert C, Korfei M, Gochuico BR, Bellusci S, Seeger W, Ochs M, Guenther A, Mahavadi P
Am J Physiol Lung Cell Mol Physiol 2016 Mar 15;310(6):L519-31. Epub 2015 Dec 30 doi: 10.1152/ajplung.00213.2015. PMID: 26719147Free PMC Article
Mucocutaneous granulomatous disease in a patient with Hermansky-Pudlak syndrome.
Salvaggio HL, Graeber KE, Clarke LE, Schlosser BJ, Orlow SJ, Clarke JT
JAMA Dermatol 2014 Oct;150(10):1083-7. doi: 10.1001/jamadermatol.2014.147. PMID: 24989352
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
Wei ML
Pigment Cell Res 2006 Feb;19(1):19-42. doi: 10.1111/j.1600-0749.2005.00289.x. PMID: 16420244

Recent systematic reviews

The efficacy and safety of pirfenidone in the treatment of HPS-related pulmonary fibrosis and Idiopathic pulmonary fibrosis: a systematic review and meta-analysis.
Ma YJ, Zhang Q, Wang CX, Wu W
Eur Rev Med Pharmacol Sci 2022 Nov;26(22):8411-8424. doi: 10.26355/eurrev_202211_30377. PMID: 36459024
Systematic review of drug effects in humans and models with surfactant-processing disease.
Klay D, Hoffman TW, Harmsze AM, Grutters JC, van Moorsel CHM
Eur Respir Rev 2018 Sep 30;27(149) Epub 2018 Jul 11 doi: 10.1183/16000617.0135-2017. PMID: 29997245Free PMC Article

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