U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Pulmonary xanthomatosis

MedGen UID:
846293
•Concept ID:
C3873402
•
Disease or Syndrome
Synonyms: Lung xanthoma; Pulmonary xanthoma; Xanthoma of lung
SNOMED CT: Xanthoma of lung (707364007); Pulmonary xanthoma (707364007)
 
HPO: HP:0034626

Definition

Lipid deposits localized within the lung. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPulmonary xanthomatosis

Professional guidelines

PubMed

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
Nie S, Chen G, Cao X, Zhang Y
Orphanet J Rare Dis 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. PMID: 25424010Free PMC Article
Incidence of pancreatitis, secondary causes, and treatment of patients referred to a specialty lipid clinic with severe hypertriglyceridemia: a retrospective cohort study.
Sandhu S, Al-Sarraf A, Taraboanta C, Frohlich J, Francis GA
Lipids Health Dis 2011 Sep 11;10:157. doi: 10.1186/1476-511X-10-157. PMID: 21906399Free PMC Article
Differential diagnosis in the pathology of asbestosis.
Gough J
Ann N Y Acad Sci 1965 Dec 31;132(1):368-72. doi: 10.1111/j.1749-6632.1965.tb41117.x. PMID: 5295837

Recent clinical studies

Etiology

Metabolic systems approaches update molecular insights of clinical phenotypes and cardiovascular risk in patients with homozygous familial hypercholesterolemia.
Du Z, Li F, Jiang L, Li L, Du Y, Yu H, Luo Y, Wang Y, Sun H, Hu C, Li J, Yang Y, Jiao X, Wang L, Qin Y
BMC Med 2023 Jul 27;21(1):275. doi: 10.1186/s12916-023-02967-8. PMID: 37501168Free PMC Article
Simplified Canadian Definition for Familial Hypercholesterolemia.
Ruel I, Brisson D, Aljenedil S, Awan Z, Baass A, Bélanger A, Bergeron J, Bewick D, Brophy JM, Brunham LR, Couture P, Dufour R, Francis GA, Frohlich J, Gagné C, Gaudet D, Grégoire JC, Gupta M, Hegele RA, Mancini GBJ, McCrindle BW, Pang J, Raggi P, Tu JV, Watts GF, Genest J
Can J Cardiol 2018 Sep;34(9):1210-1214. Epub 2018 May 19 doi: 10.1016/j.cjca.2018.05.015. PMID: 30093300
A keen eye for risk.
Ford TJ, Rocchiccioli P
BMJ 2018 Feb 1;360:j5884. doi: 10.1136/bmj.j5884. PMID: 29419393
Skin disorders in elderly subjects.
Reszke R, Pełka D, Walasek A, Machaj Z, Reich A
Int J Dermatol 2015 Sep;54(9):e332-8. Epub 2015 Jul 3 doi: 10.1111/ijd.12832. PMID: 26148310
Detection and evaluation of dyslipoproteinemia.
Hoeg JM
Endocrinol Metab Clin North Am 1990 Jun;19(2):311-20. PMID: 2192876

Diagnosis

Clinical presentation, imaging and response to interferon-alpha therapy in Erdheim-Chester disease: case-based review.
Iaremenko O, Petelytska L, Dyadyk O, Negria N, Fedkov D
Rheumatol Int 2020 Sep;40(9):1529-1536. Epub 2020 Jun 22 doi: 10.1007/s00296-020-04627-z. PMID: 32572610
From Editor's desk.
Agrawal R
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):1-2. doi: 10.4103/0377-4929.251285. PMID: 30706850
Severe xanthomatosis in heterozygous familial hypercholesterolemia.
Aljenedil S, Ruel I, Watters K, Genest J
J Clin Lipidol 2018 Jul-Aug;12(4):872-877. Epub 2018 Apr 3 doi: 10.1016/j.jacl.2018.03.087. PMID: 29778561
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
Nie S, Chen G, Cao X, Zhang Y
Orphanet J Rare Dis 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. PMID: 25424010Free PMC Article
Giant cell granulomatous pulmonary and myocardial lesions in necrobiotic xanthogranuloma with paraproteinemia.
Winkelmann RK, Litzow MR, Umbert IJ, Lie JT
Mayo Clin Proc 1997 Nov;72(11):1028-33. doi: 10.4065/72.11.1028. PMID: 9374976

Therapy

Metabolic systems approaches update molecular insights of clinical phenotypes and cardiovascular risk in patients with homozygous familial hypercholesterolemia.
Du Z, Li F, Jiang L, Li L, Du Y, Yu H, Luo Y, Wang Y, Sun H, Hu C, Li J, Yang Y, Jiao X, Wang L, Qin Y
BMC Med 2023 Jul 27;21(1):275. doi: 10.1186/s12916-023-02967-8. PMID: 37501168Free PMC Article
Cerebrotendinous xanthomatosis with radiological abnormalities of the chest.
Zaizen Y, Tominaga M, Nagata S, Hoshino T
BMJ Case Rep 2021 Sep 3;14(9) doi: 10.1136/bcr-2021-243715. PMID: 34479889Free PMC Article
Clinical presentation, imaging and response to interferon-alpha therapy in Erdheim-Chester disease: case-based review.
Iaremenko O, Petelytska L, Dyadyk O, Negria N, Fedkov D
Rheumatol Int 2020 Sep;40(9):1529-1536. Epub 2020 Jun 22 doi: 10.1007/s00296-020-04627-z. PMID: 32572610
Severe xanthomatosis in heterozygous familial hypercholesterolemia.
Aljenedil S, Ruel I, Watters K, Genest J
J Clin Lipidol 2018 Jul-Aug;12(4):872-877. Epub 2018 Apr 3 doi: 10.1016/j.jacl.2018.03.087. PMID: 29778561
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
Nie S, Chen G, Cao X, Zhang Y
Orphanet J Rare Dis 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. PMID: 25424010Free PMC Article

Prognosis

Metabolic systems approaches update molecular insights of clinical phenotypes and cardiovascular risk in patients with homozygous familial hypercholesterolemia.
Du Z, Li F, Jiang L, Li L, Du Y, Yu H, Luo Y, Wang Y, Sun H, Hu C, Li J, Yang Y, Jiao X, Wang L, Qin Y
BMC Med 2023 Jul 27;21(1):275. doi: 10.1186/s12916-023-02967-8. PMID: 37501168Free PMC Article
Skin disorders in elderly subjects.
Reszke R, Pełka D, Walasek A, Machaj Z, Reich A
Int J Dermatol 2015 Sep;54(9):e332-8. Epub 2015 Jul 3 doi: 10.1111/ijd.12832. PMID: 26148310
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
Nie S, Chen G, Cao X, Zhang Y
Orphanet J Rare Dis 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. PMID: 25424010Free PMC Article
The clinical expression of primary biliary cirrhosis.
Heathcote J
Semin Liver Dis 1997 Feb;17(1):23-33. doi: 10.1055/s-2007-1007180. PMID: 9089908
Cutaneous histiocytosis syndromes.
Roper SS, Spraker MK
Pediatr Dermatol 1985 Nov;3(1):19-30. doi: 10.1111/j.1525-1470.1985.tb00480.x. PMID: 2999740

Clinical prediction guides

Metabolic systems approaches update molecular insights of clinical phenotypes and cardiovascular risk in patients with homozygous familial hypercholesterolemia.
Du Z, Li F, Jiang L, Li L, Du Y, Yu H, Luo Y, Wang Y, Sun H, Hu C, Li J, Yang Y, Jiao X, Wang L, Qin Y
BMC Med 2023 Jul 27;21(1):275. doi: 10.1186/s12916-023-02967-8. PMID: 37501168Free PMC Article
Skin disorders in elderly subjects.
Reszke R, Pełka D, Walasek A, Machaj Z, Reich A
Int J Dermatol 2015 Sep;54(9):e332-8. Epub 2015 Jul 3 doi: 10.1111/ijd.12832. PMID: 26148310
Correlating corneal arcus with atherosclerosis in familial hypercholesterolemia.
Zech LA Jr, Hoeg JM
Lipids Health Dis 2008 Mar 10;7:7. doi: 10.1186/1476-511X-7-7. PMID: 18331643Free PMC Article
The clinical expression of primary biliary cirrhosis.
Heathcote J
Semin Liver Dis 1997 Feb;17(1):23-33. doi: 10.1055/s-2007-1007180. PMID: 9089908
Serial section analysis of the lesions in diffuse panbronchiolitis.
Maeda M, Saiki S, Yamanaka A
Acta Pathol Jpn 1987 May;37(5):693-704. doi: 10.1111/j.1440-1827.1987.tb00404.x. PMID: 3630693

Recent systematic reviews

Diagnostic accuracy of ultrasound and MRI for Achilles tendon xanthoma in people with familial hypercholesterolemia: A systematic review.
Scott A, Zahradnik TM, Squier K, Beck C, Brunham LR
J Clin Lipidol 2019 Jan-Feb;13(1):40-48. Epub 2018 Nov 7 doi: 10.1016/j.jacl.2018.10.013. PMID: 30503304

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...