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Lymphedema praecox(LMPHM5)

MedGen UID:
1648463
Concept ID:
C4746631
Disease or Syndrome
Synonyms: Hereditary Lymphedema II; LMPHM5; LYMPHEDEMA, LATE-ONSET; Meige lymphedema
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0007920
OMIM®: 153200
Orphanet: ORPHA90186

Definition

Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). For a discussion of the genetic heterogeneity of lymphocytic malformation, see 153100. [from OMIM]

Additional description

From MedlinePlus Genetics
Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid builds up abnormally, it causes swelling (lymphedema) in the lower limbs.

Meige disease is classified as a primary lymphedema, which means it is a form of lymphedema that is not caused by other health conditions. In Meige disease, the lymphatic system abnormalities are present from birth (congenital), although the swelling is not usually apparent until puberty. The swelling often begins in the feet and ankles and progresses up the legs to the knees. Some affected individuals develop non-contagious skin infections called cellulitis or erysipelas in the legs, which can further damage the vessels that carry lymphatic fluid.  https://medlineplus.gov/genetics/condition/meige-disease

Clinical features

From HPO
Hypoplasia of lymphatic vessels
MedGen UID:
871105
Concept ID:
C4025570
Congenital Abnormality
Congenital underdevelopment of lymph vessels.
Predominantly lower limb lymphedema
MedGen UID:
320552
Concept ID:
C1835228
Finding
Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.
Facial edema
MedGen UID:
154241
Concept ID:
C0542571
Pathologic Function
Swelling due to an excessive accumulation of fluid in facial tissues.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Yellow nails
MedGen UID:
369197
Concept ID:
C1768507
Sign or Symptom
Yellowish discoloration of the nails.

Professional guidelines

PubMed

GARBER JR, ABRAMS W
J Am Phys Ther Assoc 1962 May;42:323-4. doi: 10.1093/ptj/42.5.323. PMID: 13896757

Recent clinical studies

Etiology

Shah AA, Petrosyan M, Nizam W, Roberson J, Guzzetta P
J Pediatr Surg 2020 Jul;55(7):1363-1365. Epub 2019 Oct 25 doi: 10.1016/j.jpedsurg.2019.09.014. PMID: 31706604
Yoshida S, Koshima I, Imai H, Sasaki A, Fujioka Y, Nagamatsu S, Yokota K, Harima M, Yamashita S, Tashiro K
J Vasc Surg Venous Lymphat Disord 2020 Mar;8(2):251-258. Epub 2019 Jun 21 doi: 10.1016/j.jvsv.2019.03.021. PMID: 31231056
Eswara JR, McDougal WS
J Urol 2013 Dec;190(6):2139-43. Epub 2013 Jun 11 doi: 10.1016/j.juro.2013.05.113. PMID: 23764084
Espinosa-de-Los-Monteros A, Hinojosa CA, Abarca L, Iglesias M
J Vasc Surg 2009 Jan;49(1):222-4. doi: 10.1016/j.jvs.2008.07.073. PMID: 19174259
Mestan MA, Ameen J
J Manipulative Physiol Ther 1998 Sep;21(7):479-83. PMID: 9777548

Diagnosis

Shah AA, Petrosyan M, Nizam W, Roberson J, Guzzetta P
J Pediatr Surg 2020 Jul;55(7):1363-1365. Epub 2019 Oct 25 doi: 10.1016/j.jpedsurg.2019.09.014. PMID: 31706604
Yoshida S, Koshima I, Imai H, Sasaki A, Fujioka Y, Nagamatsu S, Yokota K, Harima M, Yamashita S, Tashiro K
J Vasc Surg Venous Lymphat Disord 2020 Mar;8(2):251-258. Epub 2019 Jun 21 doi: 10.1016/j.jvsv.2019.03.021. PMID: 31231056
Borz C, Muresan M, Jimborean O, Muresan S, Dorobantu D, Parente M, Jimborean G
Ann Ital Chir 2018;89:350-356. PMID: 30337509
Harel L, Amir J, Nussinovitch M, Straussberg R, Varsano I
J Pediatr 1997 Mar;130(3):492-4. doi: 10.1016/s0022-3476(97)70219-1. PMID: 9063433
Lewis JM, Wald ER
J Pediatr 1984 May;104(5):641-8. doi: 10.1016/s0022-3476(84)80937-3. PMID: 6371208

Therapy

Yoshida S, Koshima I, Imai H, Sasaki A, Fujioka Y, Nagamatsu S, Yokota K, Harima M, Yamashita S, Tashiro K
J Vasc Surg Venous Lymphat Disord 2020 Mar;8(2):251-258. Epub 2019 Jun 21 doi: 10.1016/j.jvsv.2019.03.021. PMID: 31231056
Malá J, Malý R, Vršanská V, Doležal J, Popper E, Ettler K
Vasa 2013 May;42(3):218-22. doi: 10.1024/0301-1526/a000270. PMID: 23644374
Lewis JM, Wald ER
J Pediatr 1984 May;104(5):641-8. doi: 10.1016/s0022-3476(84)80937-3. PMID: 6371208
Morton RA
J Am Podiatry Assoc 1973 Dec;63(12):675-6. doi: 10.7547/87507315-63-12-675. PMID: 4764794

Prognosis

Yoshida S, Koshima I, Imai H, Sasaki A, Fujioka Y, Nagamatsu S, Yokota K, Harima M, Yamashita S, Tashiro K
J Vasc Surg Venous Lymphat Disord 2020 Mar;8(2):251-258. Epub 2019 Jun 21 doi: 10.1016/j.jvsv.2019.03.021. PMID: 31231056
Borz C, Muresan M, Jimborean O, Muresan S, Dorobantu D, Parente M, Jimborean G
Ann Ital Chir 2018;89:350-356. PMID: 30337509
Rizzo C, Gruson LM, Wainwright BD
Dermatol Online J 2009 Aug 15;15(8):7. PMID: 19891915
Mestan MA, Ameen J
J Manipulative Physiol Ther 1998 Sep;21(7):479-83. PMID: 9777548
Lewis JM, Wald ER
J Pediatr 1984 May;104(5):641-8. doi: 10.1016/s0022-3476(84)80937-3. PMID: 6371208

Clinical prediction guides

Yoshida S, Koshima I, Imai H, Sasaki A, Fujioka Y, Nagamatsu S, Yokota K, Harima M, Yamashita S, Tashiro K
J Vasc Surg Venous Lymphat Disord 2020 Mar;8(2):251-258. Epub 2019 Jun 21 doi: 10.1016/j.jvsv.2019.03.021. PMID: 31231056
Shelley WB, Wood MG
Cancer 1981 Aug 1;48(3):820-4. doi: 10.1002/1097-0142(19810801)48:3<820::aid-cncr2820480325>3.0.co;2-h. PMID: 7248909
GORMAN JF, NAVARRE JR
Vasc Dis 1965 Jan;2:1-10. PMID: 14252939

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