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Fibromuscular dysplasia, multifocal(FMDMF)

MedGen UID:
1778238
Concept ID:
C5543412
Disease or Syndrome
Synonyms: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF
 
Gene (location): COL5A1 (9q34.3)
 
Monarch Initiative: MONDO:0859151
OMIM®: 619329

Definition

Multifocal fibromuscular dysplasia (FMDMF) is characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Arterial tortuosity, macroaneurysms, dissections, and rupture may occur (summary by Richer et al., 2020). [from OMIM]

Clinical features

From HPO
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Fibromuscular dysplasia
MedGen UID:
4700
Concept ID:
C0016052
Disease or Syndrome
Fibromuscular dysplasia (FMDA) is a nonatherosclerotic, noninflammatory arterial disease that most commonly involves the renal and carotid arteries. The prevalence of symptomatic renal artery FMDA is about 4 in 1,000 and the prevalence of cervicocranial FMDA is about half of that. Histologic classification includes 3 main subtypes, intimal, medial, and perimedial, which may be associated in a single patient. Angiographic classification includes the multifocal type, with multiple stenoses and the 'string of beads' appearance that is related to medial FMDA, and tubular and focal types, which are not clearly related to specific histologic lesions (summary by Plouin et al., 2007)
Pulmonary artery aneurysm
MedGen UID:
57839
Concept ID:
C0155676
Anatomical Abnormality
An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.
Carotid artery tortuosity
MedGen UID:
724577
Concept ID:
C1303076
Finding
Abnormal tortuous (i.e., twisted) form of the carotid arteries.
Tortuous cerebral arteries
MedGen UID:
373178
Concept ID:
C1836791
Finding
Excessive bending, twisting, and winding of a cerebral artery.
Dilatation of the cerebral artery
MedGen UID:
1386760
Concept ID:
C4476540
Anatomical Abnormality
The presence of a localized dilatation or ballooning of a cerebral artery.
Dilatation of celiac artery
MedGen UID:
1393390
Concept ID:
C4477059
Anatomical Abnormality
Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.
Celiac artery dissection
MedGen UID:
1682363
Concept ID:
C5192444
Disease or Syndrome
A separation (dissection) of the layers of the celiac artery wall.
Vertebral artery tortuosity
MedGen UID:
1677223
Concept ID:
C5195051
Anatomical Abnormality
Abnormal tortuous (i.e., twisted) form of the vertebral arteries.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Joint subluxation
MedGen UID:
83065
Concept ID:
C0332768
Injury or Poisoning
A partial dislocation of a joint.
Shoulder subluxation
MedGen UID:
451059
Concept ID:
C0434744
Injury or Poisoning
A partial dislocation of the shoulder joint.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Hiatus hernia
MedGen UID:
483347
Concept ID:
C3489393
Acquired Abnormality
The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.
Dental crowding
MedGen UID:
11850
Concept ID:
C0040433
Finding
Changes in alignment of teeth in the dental arch
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Narrow nose
MedGen UID:
98086
Concept ID:
C0426422
Finding
Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.
Striae distensae
MedGen UID:
57541
Concept ID:
C0152459
Acquired Abnormality
Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
Atrophic scars
MedGen UID:
57875
Concept ID:
C0162154
Pathologic Function
Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.
Hyperextensible skin
MedGen UID:
66023
Concept ID:
C0241074
Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Dermal translucency
MedGen UID:
373141
Concept ID:
C1836646
Finding
An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.
Soft skin
MedGen UID:
336730
Concept ID:
C1844592
Finding
Subjective impression of increased softness upon palpation of the skin.
Soft, doughy skin
MedGen UID:
341366
Concept ID:
C1849043
Finding
A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.

Professional guidelines

PubMed

Chen Y, Dong H, Jiang X, Deng Y, Zou Y, Che W, Xiong H, Xu B, Yang Y, Gao R
Catheter Cardiovasc Interv 2020 Feb;95 Suppl 1:641-647. Epub 2020 Jan 13 doi: 10.1002/ccd.28679. PMID: 31943685
Brinza E, Grabinski V, Durga S, O'Connor S, Yesenko SL, Kim ESH, Gornik HL
Angiology 2017 Sep;68(8):722-727. Epub 2016 Dec 22 doi: 10.1177/0003319716682121. PMID: 28006960
Giavarini A, Savard S, Sapoval M, Plouin PF, Steichen O
J Hypertens 2014 Dec;32(12):2433-8; discussion 2438. doi: 10.1097/HJH.0000000000000349. PMID: 25232754

Recent clinical studies

Etiology

Katz AE, Yang ML, Levin MG, Tcheandjieu C, Mathis M, Hunker K, Blackburn S, Eliason JL, Coleman DM, Fendrikova-Mahlay N, Gornik HL, Karmakar M, Hill H, Xu C, Zawistowski M, Brummett CM, Zoellner S, Zhou X, O'Donnell CJ, Douglas JA, Assimes TL, Tsao PS; VA Million Veteran Program, Li JZ, Damrauer SM, Stanley JC, Ganesh SK
Circ Genom Precis Med 2022 Dec;15(6):e003496. Epub 2022 Nov 14 doi: 10.1161/CIRCGEN.121.003496. PMID: 36374587Free PMC Article
Patil DT, Kissiedu J, Rodriguez ER, Downs-Kelly E, Liu X, Rybicki LA, Tan CD
Am J Surg Pathol 2016 Oct;40(10):1316-25. doi: 10.1097/PAS.0000000000000710. PMID: 27487739
Saw J, Bezerra H, Gornik HL, Machan L, Mancini GB
Circulation 2016 Apr 19;133(16):1548-59. Epub 2016 Mar 8 doi: 10.1161/CIRCULATIONAHA.115.020282. PMID: 26957531
Pasquini M, Trystram D, Nokam G, Gobin-Metteil MP, Oppenheim C, Touzé E
Rev Neurol (Paris) 2015 Sep;171(8-9):616-23. Epub 2015 Apr 7 doi: 10.1016/j.neurol.2015.02.011. PMID: 25857462
Plouin PF, Perdu J, La Batide-Alanore A, Boutouyrie P, Gimenez-Roqueplo AP, Jeunemaitre X
Orphanet J Rare Dis 2007 Jun 7;2:28. doi: 10.1186/1750-1172-2-28. PMID: 17555581Free PMC Article

Diagnosis

Katz AE, Yang ML, Levin MG, Tcheandjieu C, Mathis M, Hunker K, Blackburn S, Eliason JL, Coleman DM, Fendrikova-Mahlay N, Gornik HL, Karmakar M, Hill H, Xu C, Zawistowski M, Brummett CM, Zoellner S, Zhou X, O'Donnell CJ, Douglas JA, Assimes TL, Tsao PS; VA Million Veteran Program, Li JZ, Damrauer SM, Stanley JC, Ganesh SK
Circ Genom Precis Med 2022 Dec;15(6):e003496. Epub 2022 Nov 14 doi: 10.1161/CIRCGEN.121.003496. PMID: 36374587Free PMC Article
van Twist DJL, de Leeuw PW, Spiering W, Rossi GP, Dominiczak AF, Jennings GLR, Barigou M, Persu A, Kroon AA
Hypertension 2019 Jan;73(1):7-12. doi: 10.1161/HYPERTENSIONAHA.118.12004. PMID: 30571541
Pasquini M, Trystram D, Nokam G, Gobin-Metteil MP, Oppenheim C, Touzé E
Rev Neurol (Paris) 2015 Sep;171(8-9):616-23. Epub 2015 Apr 7 doi: 10.1016/j.neurol.2015.02.011. PMID: 25857462
Kirton A, Crone M, Benseler S, Mineyko A, Armstrong D, Wade A, Sebire G, Crous-Tsanaclis AM, deVeber G
Brain 2013 Jun;136(Pt 6):1846-56. Epub 2013 May 28 doi: 10.1093/brain/awt111. PMID: 23715093
Plouin PF, Perdu J, La Batide-Alanore A, Boutouyrie P, Gimenez-Roqueplo AP, Jeunemaitre X
Orphanet J Rare Dis 2007 Jun 7;2:28. doi: 10.1186/1750-1172-2-28. PMID: 17555581Free PMC Article

Therapy

Kang YY, Chen Y, Wu QH, Dong H, Zou YB, Gao PJ, Xu JZ, Jiang XJ, Wang JG
J Hypertens 2023 Apr 1;41(4):638-647. Epub 2023 Jan 31 doi: 10.1097/HJH.0000000000003382. PMID: 36723459Free PMC Article
Bruno RM, Marais L, Khettab H, Lorthioir A, Frank M, Jeunemaitre X, Laurent S, Boutouyrie P, Azizi M
Hypertension 2019 Feb;73(2):371-378. doi: 10.1161/HYPERTENSIONAHA.118.12189. PMID: 30624987
van Twist DJL, de Leeuw PW, Spiering W, Rossi GP, Dominiczak AF, Jennings GLR, Barigou M, Persu A, Kroon AA
Hypertension 2019 Jan;73(1):7-12. doi: 10.1161/HYPERTENSIONAHA.118.12004. PMID: 30571541
Savard S, Azarine A, Jeunemaitre X, Azizi M, Plouin PF, Steichen O
Hypertension 2013 Jun;61(6):1227-32. Epub 2013 Apr 22 doi: 10.1161/HYPERTENSIONAHA.111.00838. PMID: 23608656
Plouin PF, Perdu J, La Batide-Alanore A, Boutouyrie P, Gimenez-Roqueplo AP, Jeunemaitre X
Orphanet J Rare Dis 2007 Jun 7;2:28. doi: 10.1186/1750-1172-2-28. PMID: 17555581Free PMC Article

Prognosis

Pappaccogli M, Di Monaco S, Warchoł-Celińska E, Lorthioir A, Amar L, Aparicio LS, Beauloye C, Bruno RM, Chenu P, de Leeuw P, De Backer T, Delmotte P, Dika Z, Gordin D, Heuten H, Iwashima Y, Krzesinski JM, Kroon AA, Mazzolai L, Poch E, Sarafidis P, Seinturier C, Spiering W, Toubiana L, Van der Niepen P, van Twist D, Visonà A, Wautrecht JC, Witowicz H, Xu J, Prejbisz A, Januszewicz A, Azizi M, Persu A; European/International FMD Registry and Initiative (FEIRI), and the Working Group ‘Hypertension and the Kidney’ of the European Society of Hypertension (ESH)
Cardiovasc Res 2021 Feb 22;117(3):950-959. doi: 10.1093/cvr/cvaa102. PMID: 32282921
Olin JW, Di Narzo AF, d'Escamard V, Kadian-Dodov D, Cheng H, Georges A, King A, Thomas A, Barwari T, Michelis KC, Bouchareb R, Bander E, Anyanwu A, Stelzer P, Filsoufi F, Florman S, Civelek M, Debette S, Jeunemaitre X, Björkegren JLM, Mayr M, Bouatia-Naji N, Hao K, Kovacic JC
Cardiovasc Res 2020 Jan 1;116(1):63-77. doi: 10.1093/cvr/cvz219. PMID: 31424497Free PMC Article
Patil DT, Kissiedu J, Rodriguez ER, Downs-Kelly E, Liu X, Rybicki LA, Tan CD
Am J Surg Pathol 2016 Oct;40(10):1316-25. doi: 10.1097/PAS.0000000000000710. PMID: 27487739
Pasquini M, Trystram D, Nokam G, Gobin-Metteil MP, Oppenheim C, Touzé E
Rev Neurol (Paris) 2015 Sep;171(8-9):616-23. Epub 2015 Apr 7 doi: 10.1016/j.neurol.2015.02.011. PMID: 25857462
Plouin PF, Perdu J, La Batide-Alanore A, Boutouyrie P, Gimenez-Roqueplo AP, Jeunemaitre X
Orphanet J Rare Dis 2007 Jun 7;2:28. doi: 10.1186/1750-1172-2-28. PMID: 17555581Free PMC Article

Clinical prediction guides

Katz AE, Yang ML, Levin MG, Tcheandjieu C, Mathis M, Hunker K, Blackburn S, Eliason JL, Coleman DM, Fendrikova-Mahlay N, Gornik HL, Karmakar M, Hill H, Xu C, Zawistowski M, Brummett CM, Zoellner S, Zhou X, O'Donnell CJ, Douglas JA, Assimes TL, Tsao PS; VA Million Veteran Program, Li JZ, Damrauer SM, Stanley JC, Ganesh SK
Circ Genom Precis Med 2022 Dec;15(6):e003496. Epub 2022 Nov 14 doi: 10.1161/CIRCGEN.121.003496. PMID: 36374587Free PMC Article
Bruno RM, Marais L, Khettab H, Lorthioir A, Frank M, Jeunemaitre X, Laurent S, Boutouyrie P, Azizi M
Hypertension 2019 Feb;73(2):371-378. doi: 10.1161/HYPERTENSIONAHA.118.12189. PMID: 30624987
Patil DT, Kissiedu J, Rodriguez ER, Downs-Kelly E, Liu X, Rybicki LA, Tan CD
Am J Surg Pathol 2016 Oct;40(10):1316-25. doi: 10.1097/PAS.0000000000000710. PMID: 27487739
Saw J, Bezerra H, Gornik HL, Machan L, Mancini GB
Circulation 2016 Apr 19;133(16):1548-59. Epub 2016 Mar 8 doi: 10.1161/CIRCULATIONAHA.115.020282. PMID: 26957531
Plouin PF, Perdu J, La Batide-Alanore A, Boutouyrie P, Gimenez-Roqueplo AP, Jeunemaitre X
Orphanet J Rare Dis 2007 Jun 7;2:28. doi: 10.1186/1750-1172-2-28. PMID: 17555581Free PMC Article

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