In this paper we present a five-generation kindred with familial
eosinophilia, associated with valvular heart disease in one of seven members of
the second generation, four of sixteen members of the third generation, four of
thirty-one members of the fourth generation, and two of twenty members of the
fifth generation; the clinical features of the two members of the first
generation are unavailable. Of a total of 48 members, 26 had eosinophilia, with
counts ranging from 1761 to 6045 cells/mm3, with apparent autosomal
dominant propagation; this confirms the experience of the authors of previous
studies on this condition. Genetic analysis on eight members, which we reported
in an earlier paper[1], revealed a pericentric inversion of chromosome 10 in two members. The
entity of Familial Eosinophilia has been generally considered benign. However,
the clinical presentation of this kindred was unusual in that valvular and
endocardial damage, was frequent findings, without apparent involvement of the other organs and
tissues. Mitral valve damage leading to both stenosis and regurgitation and
requiring mitral valve replacement was noted in the index patient. This unique
presentation may suggest that in patients with mitral valve disease, if blood
eosinophilia is noted, it could point to a non-rheumatic etiology, thus a
possible opportunity for treatment to prevent further damage to the heart. This
recommendation may be even more timely, as many effective treatments are now
available to treat even high-grade hypereosinophilia.
References
[1]
Lin, A.Y., Nutman, T.B., Kaslow, D., Mulvihill, J.J., Fontaine, L., White, B.J., Knutsen, T., Theil, K.S., Raghuprasad, P.K., Goldstein, A.M. and Tucker, M.A. (1999) Familial Eosinophilia: Clinical and Laboratory Results on a U.S. Kindred. American Journal of Medical Genetics, 76, 229-237. https://doi.org/10.1002/(SICI)1096-8628(19980319)76:3<229::AID-AJMG6>3.0.CO;2-L
[2]
Gaugain, M. (1909) Un cas déosinophilie familiale. Sports and Exercise Medicine, 29, 329.
Palma, D.M. (1931) Sulla Eosinophilia Famigliare. Policlinico-Sezione Medica, 38, 605-619.
[7]
Naiman, J.L., Oski, F.A., Allen Jr., F.H. and Diamond, L.K. (1964) Hereditary Eosinophila: Report of a Family and Review of the Literature. The American Journal of Human Genetics, 16, 195-203.
[8]
Klion, A.D., Law, M.A., et al. (2004) Familial Eosinophilia: A Benign Disorder? Blood, 103, 4050-4055. https://doi.org/10.1182/blood-2003-11-3850
[9]
Keshavarzian, A., Saverymuthu, S.H., Tai, P.-C., Thompson, M., Barter, S., Spry, C.J.F. and Chadwick, V.S. (1985) Activated Eosinophils in Familial Eosinophilic Gastroenteritis. Gastroenterology, 88, 1041-1049. https://doi.org/10.1016/S0016-5085(85)80026-3
[10]
Hardy, W.R. and Anderson, R.E. (1968) The Hypereosinophilic Syndrome. Annals of Internal Medicine, 68, 1220-1229. https://doi.org/10.7326/0003-4819-68-6-1220
[11]
Chusid, M.J., Dale, D.C., West, B.C. and Wolfe, S.M. (1975) The Hypereosinophilc Syndrome: Analysis of Fourteen Cases with Review of the Literature. Medicine, 54, 1-27. https://doi.org/10.1097/00005792-197501000-00001
[12]
Schooley, E.T., Flaum, M.A., Gralnick, H.R. and Fauci, A.S. (1981) A Clinicopathologic Correlation of the Idiopathic Hypereosinophilic Syndrome. II. Clinical Manifestations. Blood, 58, 1021-1026. https://doi.org/10.1182/blood.V58.5.1021.1021
[13]
Brito-Babapulle, F. (2003) The Eosinophilias, Including the Idiopathic Hypereosinophilic Syndrome. British Journal of Haematology, 121, 203-223. https://doi.org/10.1046/j.1365-2141.2003.04195.x
[14]
Liesveld, J.L. and Abboud, C.N. (1991) State of the Art: The Hypereosinophilic Syndromes. Blood Reviews, 5, 29-37. https://doi.org/10.1016/0268-960X(91)90005-W
[15]
Tefferi, A. (2005) Blood Eosinophilia: A New Paradigm in Disease Classification, Diagnosis and Treatment. Mayo Clinic Proceedings, 80, 75-83. https://doi.org/10.1016/S0025-6196(11)62962-5
[16]
Bogenrieder, T., Griese, D.P., Schiffner, R., Büttner, R., Riegger, G.A.J., Hohenleutner, U. and Landthaler, M. (1997) Well’s Syndrome Associated with Idiopathic Hypereosinophilic Syndrome. British Journal of Dermatology, 137, 978-982.
[17]
Spry, C.J.F., Davies, J., Tai, P.C., Olsen, E.G.J., Oakley, C.M. and Goodwin, J.F. (1983) Clinical Features of Fifteen Patients with the Hypereosinophilic Syndrome. QJM: An International Journal of Medicine, 52, 1-22.
[18]
lakshmi Sundaramurthi, V., Prabhavathy, D., Somasundaram, S.V. and Wahab, A.J. (2011) Hypereosinophilic Syndrome: Cutaneous Involvement as the Sole Manifestation. Indian Journal of Dermatology, 56, 107-109. https://doi.org/10.4103/0019-5154.77570
[19]
Dorfman, L.J., Ransom, B.R., Forno, L.S. and Kelts, A. (1983) Neuropathy in the Hypereosinophilic Syndrome. Muscle & Nerve, 6, 291-298. https://doi.org/10.1002/mus.880060408
[20]
Goffman, T.E., Mulvihill, J.J., Carney, D.N., Trizhe, T.J. and Whang-Peng, J. (1983) Fatal Hypereosinophilia with Chromosome 15q-in a Patient with Multiple Primary and Familial Neoplasms. Cancer Genetics, 8, 197-202. https://doi.org/10.1016/0165-4608(83)90135-8
[21]
Fauci, A.S., Harley, J.B., Roberts, W.C., Ferrans, V.J., Gralnick, H.R. and Bjornson, B.H. (1982) The Idiopathic Hypereosinophilic Syndrome. Clinical, Pathphysiologic, and Therapeutic Considerations. Annals of Internal Medicine, 97, 78-92. https://doi.org/10.7326/0003-4819-97-1-78
[22]
Flaum, M.A., Schooley, R.T., Fauci, A.S. and Gralnick, H.R. (1981) A Clinicopathologic Correlation of the Idiopathic Hypereosinophilic Syndrome. I. Hematologic Manifestations. Blood, 58, 1012-1020.
[23]
Spry, C.J.F. (1980) Eosinophilia and Allergic Reactions to Drugs. Clinics in Haematology, 9, 521-534. https://doi.org/10.1016/S0308-2261(21)00194-6
[24]
Chapman, B.J., Capewell, S., Gibson, R., Greening, A.P. and Crompton, G.K. (1989) Pulmonary Eosinophilia with and without Allergy Bronchopulmonary Aspergillosis. Thorax, 44, 919-924. https://doi.org/10.1136/thx.44.11.919
[25]
Blatt, P.M., Rothstein, G., Miller, H.L. and Cathey, W.J. (1974) Loffler’s Endomyocardial Fibrosis with Eosinophilia in Association with Acute Lymphoblastic Leukemia. Blood, 44, 489-493. https://doi.org/10.1182/blood.V44.4.489.489
[26]
Yam, L.T., Yam, C.F. and Li, C.Y. (1980) Eosinophilia in Systemic Mastocytosis. American Journal of Clinical Pathology, 73, 48-54. https://doi.org/10.1093/ajcp/73.1.48
[27]
Miranda, R.N., Esparza, A.R., Sambandam, S. and Medeiros, L.J. (1994) Systemic Mast Cell Disease Presenting with Peripheral Blood Eosinophilia. Human Pathology, 25, 727-730. https://doi.org/10.1016/0046-8177(94)90308-5
[28]
Sigmund, D.A. and Flessa, H.C. (1995) Hypereosinophilic Syndrome: Successful Allogeneic Bone Marrow Transplantation. Bone Marrow Transplantation, 15, 647-648.
[29]
Pardanani, A., Elliott, M., Reeder, T., Li, C.-Y. and Baxter, N.C.P. (2003) Imatinib for Systemic Mast-Cell Disease. Lancet, 362, 535-536. https://doi.org/10.1016/S0140-6736(03)14115-3
[30]
Pardanani, A. and Tefferi, A. (2004) Imatinib Therapy for Hypereosinophilic Syndrome and Eosinophilia-Associated Myeloproliferative Disorders. Leukemia Research, 28, 47-52. https://doi.org/10.1016/j.leukres.2003.10.006
[31]
Pardanani, A., Reeder, T., Porrata, L.F., Li, C.-Y., Tazelaar, H.D., Baxter, E.J., Witzig, T.E., Cross, N.C.P. and Tefferi, A. (2003) Imatinib Therapy for Hypereosinophilic Syndrome and Other Eosinophilic Disorders. Blood, 101, 3391-3397. https://doi.org/10.1182/blood-2002-10-3103
[32]
Parrillo, J.E., Fauci, A.S. and Wolff, S.M. (1977) The Hypereosinophilic Syndrome: Dramatic Response to Therapeutic Intervention. Transactions of the Association of American Physicians, 90, 135-144.
[33]
Plötz, S.-G., Simon, H.-U., Darsow, U., Simon, D., Vassina, E., Yousefi, S., Hein, R., Smith, T., Behrendt, H. and Ring, J. (2003) Use of an Anti–Interleukin-5 Antibody in the Hypereosinophilic Syndrome with Eosinophilic Dermatitis. New England Journal of Medicine, 349, 2334-2339. https://doi.org/10.1056/NEJMoa031261
[34]
Sefcick, A., Sowter, D., DasGupta, E., Russell, N.H. and Byrne, J.L. (2004) Alemtuzumab Therapy for Refractory Idiopathic Hypereosinophilic Syndrome. British Journal of Haematology, 124, 558-559. https://doi.org/10.1046/j.1365-2141.2003.04801.x
[35]
Norman, P.S. (1983) In Vivo Methods of Study of Allergy. In: Middleton Jr., E., Reed, C. and Ellis, E.F., Eds., Allergy Principles and Practice, CV Mosby Co., Maryland, 295-302.
