DEFINITION.—An hereditary or congenital fault of constitution, characterized by a tendency to bleeding, spontaneous or traumatic, and often associated with swelling of the joints.
SYNONYMS.—Hæmatophilia; Hereditary hæmorrhage; Hæmorrhagic diathesis; Idiosyncrasia hæmorrhagica. Ger. Bluterkrankheit, Blutsucht; Fr. Hémophilie. The term bleeder is applied to a patient.
CLASSIFICATION.—In this article the congenital or hereditary disease will alone be considered, to the exclusion of cases of transient hemorrhagic diathesis, the hemorrhages of scurvy, fevers, anæmia, purpura simplex, and purpura hæmorrhagica.
HISTORY.—So far as is known, the classical writers make no mention of the disease, though in the Pharsalia of Lucan there is a passage, quoted by Legg,157 which well describes the hemorrhagic diathesis. The first positive reference is in the writings of Alzaharvi, a physician of Cordova who died in 1107 A.D. A doubtful case is mentioned by Benedictus in 1539, who relates the history of a barber who bled to death from slight wounds of the nose caused by clipping the hairs. Hochstetter described a case in 1674 to which Virchow has called attention.158 Legg159 found a well-recorded case by Banyer in the Philosophical Transactions (1743). Fordyce in 1784 described a Northamptonshire family the members of which suffered from hemorrhages.160 With brief references to the disease by two German writers in 1793 and 1798, these scanty materials comprise the facts known at the beginning of this century.
157 Hæmophilia, London, 1872.
158 Virchow's Archiv, Bd. xxviii.
159 Loc. cit.
160 Fragmenta Chirurgica et Medica, London, 1784.
To American physicians belongs the credit of the full recognition and description of the disease and the discovery of its remarkable hereditary nature.
Otto161 gave an account of a New England family members of which had been bleeders for several generations. He also referred to a Maryland family observed by Rush. Otto appears to have been the first to note the immunity of females in bleeder families, and their tendency to transmit the disposition. In the Philadelphia Medical Museum, vol. i., 1805, a letter of E. H. Smith is published, written in 1794, in which he gives an account of a boy affected with the disease. Hay162 reported the Appleton-Swain families of Reading—one of the most remarkable histories ever published of the disease. In 1817 the Buel Brothers described the Collins family,163 and Coates164 a family in Delaware county, Pa. Hughes165 and Gould166 also described notable examples. Holton, Harris, and Dunn have studied other American bleeder families, and a brief record of the local literature of the subject will be found at the end of this article.