TITLE:
Familial Eosinophilia with Cardiac Involvement: A Distinct Subset?
AUTHORS:
Puthalath Koroth Raghuprasad, Sudhir Amaram
KEYWORDS:
Familial Eosinophilia, Autosomal Dominant Propagation, High-Grade Hypereosinophilia
JOURNAL NAME:
Open Journal of Immunology,
Vol.13 No.3,
September
28,
2023
ABSTRACT: 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.