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Pulmonary capillary hemangiomatosis

MedGen UID:
87404
Concept ID:
C0340548
Disease or Syndrome
Synonyms: Pulmonary hemangiomas
Modes of inheritance:
autosomal dominant
MedGen UID:
832180
Concept ID:
CN227381
Intellectual Product
Source: Orphanet
Describes a disorder in which only one mutated allele located on one of the 22 autosomes (non-sex chromosomes) is sufficient to express the phenotype and which carries a 50% risk of being passed on to offspring.
autosomal recessive
MedGen UID:
832197
Concept ID:
CN227382
Intellectual Product
Source: Orphanet
Describes a disorder in which two mutated alleles located on one of the 22 autosomes (non-sex chromosomes) are necessary to express the phenotype and which carries a 25% risk of being passed on to offspring.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
not inherited (Orphanet)
SNOMED CT: Pulmonary capillary hemangiomatosis (233949008)
 
HPO: HP:0005954
Orphanet: ORPHA199241

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPulmonary capillary hemangiomatosis
Follow this link to review classifications for Pulmonary capillary hemangiomatosis in Orphanet.

Conditions with this feature

Von Hippel-Lindau syndrome
MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility.
Familial pulmonary capillary hemangiomatosis
MedGen UID:
90956
Concept ID:
C0340848
Neoplastic Process
Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertension (PPH; see 178600). It is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. The disorder can cause occult alveolar hemorrhage. High-resolution CT imaging of the chest shows patchy centrilobular ground-glass opacities, septal lines, and lymph node enlargement (summary by Eyries et al., 2014). For a discussion of genetic heterogeneity of pulmonary venoocclusive disease, see PVOD1 (265450).

Recent clinical studies

Etiology

Carmona S, Loureiro MJ, Santos J, Oliveira A, Camacho R, Santos AI
Rev Esp Med Nucl Imagen Mol 2013 Mar;32(2):98-101. Epub 2012 Sep 12 doi: 10.1016/j.remn.2012.06.009. [Epub ahead of print] PMID: 22981217
Frazier AA, Franks TJ, Mohammed TL, Ozbudak IH, Galvin JR
Radiographics 2007 May-Jun;27(3):867-82. doi: 10.1148/rg.273065194. PMID: 17495297
Assaad AM, Kawut SM, Arcasoy SM, Rosenzweig EB, Wilt JS, Sonett JR, Borczuk AC
Chest 2007 Mar;131(3):850-5. doi: 10.1378/chest.06-1680. PMID: 17356103
Lantuéjoul S, Sheppard MN, Corrin B, Burke MM, Nicholson AG
Am J Surg Pathol 2006 Jul;30(7):850-7. doi: 10.1097/01.pas.0000209834.69972.e5. PMID: 16819327
Dufour B, Maître S, Humbert M, Capron F, Simonneau G, Musset D
AJR Am J Roentgenol 1998 Nov;171(5):1321-4. doi: 10.2214/ajr.171.5.9798872. PMID: 9798872

Diagnosis

Dello Russo P, Franzoni A, Baldan F, Puppin C, De Maglio G, Pittini C, Cattarossi L, Pizzolitto S, Damante G
BMC Med Genet 2015 Oct 13;16:94. doi: 10.1186/s12881-015-0241-7. [Epub ahead of print] PMID: 26462560Free PMC Article
Odronic SI, Narula T, Budev M, Farver C
Ann Diagn Pathol 2015 Jun;19(3):149-53. Epub 2015 Mar 20 doi: 10.1016/j.anndiagpath.2015.03.006. [Epub ahead of print] PMID: 25886868
Akinkuotu AC, Sheikh F, Cass DL, Lee TC, Welty SE, Kearney DL, Olutoye OO
Pediatr Surg Int 2015 May;31(5):501-4. Epub 2015 Feb 13 doi: 10.1007/s00383-015-3678-z. [Epub ahead of print] PMID: 25678439
O'Keefe MC, Post MD
Arch Pathol Lab Med 2015 Feb;139(2):274-7. doi: 10.5858/arpa.2013-0500-RS. PMID: 25611112
Carmona S, Loureiro MJ, Santos J, Oliveira A, Camacho R, Santos AI
Rev Esp Med Nucl Imagen Mol 2013 Mar;32(2):98-101. Epub 2012 Sep 12 doi: 10.1016/j.remn.2012.06.009. [Epub ahead of print] PMID: 22981217

Therapy

Adachi S, Hirashiki A, Kondo T, Nakaguro M, Ogawa A, Miyaji K, Matsubara H, Yokoi T, Murohara T
Intern Med 2014;53(6):603-7. PMID: 24633031
Ogawa A, Miyaji K, Yamadori I, Shinno Y, Miura A, Kusano KF, Ito H, Date H, Matsubara H
Circ J 2012;76(7):1729-36. Epub 2012 Apr 5 [Epub ahead of print] PMID: 22481098
McGuire F, Kennelly T, Tillack T, Robbins M
Respiration 2010;80(5):435-8. Epub 2010 May 6 doi: 10.1159/000314587. [Epub ahead of print] PMID: 20453487
Humbert M, Maître S, Capron F, Rain B, Musset D, Simonneau G
Am J Respir Crit Care Med 1998 May;157(5 Pt 1):1681-5. doi: 10.1164/ajrccm.157.5.9708065. PMID: 9603154
Langleben D, Heneghan JM, Batten AP, Wang NS, Fitch N, Schlesinger RD, Guerraty A, Rouleau JL
Ann Intern Med 1988 Jul 15;109(2):106-9. PMID: 3382104

Prognosis

Akinkuotu AC, Sheikh F, Cass DL, Lee TC, Welty SE, Kearney DL, Olutoye OO
Pediatr Surg Int 2015 May;31(5):501-4. Epub 2015 Feb 13 doi: 10.1007/s00383-015-3678-z. [Epub ahead of print] PMID: 25678439
O'Keefe MC, Post MD
Arch Pathol Lab Med 2015 Feb;139(2):274-7. doi: 10.5858/arpa.2013-0500-RS. PMID: 25611112
Adachi S, Hirashiki A, Kondo T, Nakaguro M, Ogawa A, Miyaji K, Matsubara H, Yokoi T, Murohara T
Intern Med 2014;53(6):603-7. PMID: 24633031
Miura A, Akagi S, Nakamura K, Ohta-Ogo K, Hashimoto K, Nagase S, Kohno K, Kusano K, Ogawa A, Matsubara H, Toyooka S, Oto T, Ohtsuka A, Ohe T, Ito H
Cardiovasc Pathol 2013 Jul-Aug;22(4):287-93. Epub 2013 Jan 10 doi: 10.1016/j.carpath.2012.12.002. [Epub ahead of print] PMID: 23312620
Sakashita N, Motooka Y, Suganuma M, Ohnishi K, Fujiwara Y, Nakagawa T, Ichiyasu H, Takeya M
Pathol Int 2011 May;61(5):306-12. doi: 10.1111/j.1440-1827.2011.02652.x. PMID: 21501297

Clinical prediction guides

Adachi S, Hirashiki A, Kondo T, Nakaguro M, Ogawa A, Miyaji K, Matsubara H, Yokoi T, Murohara T
Intern Med 2014;53(6):603-7. PMID: 24633031
Miura A, Akagi S, Nakamura K, Ohta-Ogo K, Hashimoto K, Nagase S, Kohno K, Kusano K, Ogawa A, Matsubara H, Toyooka S, Oto T, Ohtsuka A, Ohe T, Ito H
Cardiovasc Pathol 2013 Jul-Aug;22(4):287-93. Epub 2013 Jan 10 doi: 10.1016/j.carpath.2012.12.002. [Epub ahead of print] PMID: 23312620
Wang KY, Tanimoto A, Inenaga T, Yamada S, Shimajiri S, Ding Y, Guo X, Sasaguri Y
J UOEH 2009 Dec 1;31(4):339-44. PMID: 20000007
Kradin R, Matsubara O, Mark EJ
Exp Mol Pathol 2005 Dec;79(3):194-7. Epub 2005 Oct 21 doi: 10.1016/j.yexmp.2005.08.010. [Epub ahead of print] PMID: 16246326
Resten A, Maître S, Humbert M, Sitbon O, Capron F, Simoneau G, Musset D
Radiology 2002 Mar;222(3):782-8. doi: 10.1148/radiol.2223010668. PMID: 11867801

Recent systematic reviews

Odronic SI, Narula T, Budev M, Farver C
Ann Diagn Pathol 2015 Jun;19(3):149-53. Epub 2015 Mar 20 doi: 10.1016/j.anndiagpath.2015.03.006. [Epub ahead of print] PMID: 25886868
Simonneau G, Robbins IM, Beghetti M, Channick RN, Delcroix M, Denton CP, Elliott CG, Gaine SP, Gladwin MT, Jing ZC, Krowka MJ, Langleben D, Nakanishi N, Souza R
J Am Coll Cardiol 2009 Jun 30;54(1 Suppl):S43-54. doi: 10.1016/j.jacc.2009.04.012. PMID: 19555858
Liu C, Chen J
Cochrane Database Syst Rev 2006 Jul 19;(3):CD004434. doi: 10.1002/14651858.CD004434.pub3. PMID: 16856046

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