Fig. 64.—Genealogical Tree of a Hæmophilic Family.
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The term hæmophilia is applied to an inherited disease which renders the patient liable to serious hæmorrhage from even the most trivial injuries; and the subjects of it are popularly known as “bleeders.”
The cause of the disease and its true nature are as yet unknown. There is no proof of any structural defect in the blood vessels, and beyond the fact that there is a diminution in the number of blood-plates, it has not been demonstrated that there is any alteration in the composition of the blood.
The affection is in a marked degree hereditary, all the branches of an affected family being liable to suffer. Its mode of transmission to individuals, moreover, is characteristic: the male members of the stock alone suffer from the affection in its typical form, while the tendency is transmitted through the female line. Thus the daughters of a father who is a bleeder, whilst they do not themselves suffer from the disease, transmit the tendency to their male offspring. The sons, on the other hand, neither suffer themselves nor transmit the disease to their children (Fig. 64). The female members of a hæmophilic stock are often very prolific, and there is usually a predominance of daughters in their families.
The disease is met with in boys who are otherwise healthy, and usually manifests itself during the first few years of life. In rare instances profuse hæmorrhage takes place when the umbilical cord separates. As a rule the first evidence is the occurrence of long-continued and uncontrollable bleeding from a comparatively slight injury, such as the scratch of a pin, the extraction of a tooth, or after the operation of circumcision. The blood oozes slowly from the capillaries; at first it appears normal, but after flowing for some days, or it may be weeks, it becomes pale, thin, and watery, and shows less and less tendency to coagulate.
Female members of hæmophilia families sometimes show a tendency to excessive hæmorrhage, but they seldom manifest the characteristic features met with in the male members.
Sometimes the hæmorrhage takes place apparently spontaneously from the gums, the nasal or the intestinal mucous membrane. In other cases the bleeding occurs into the cellular tissue under the skin or mucous membrane, producing large areas of ecchymosis and discoloration. One of the commonest manifestations of the disease is the occurrence of hæmorrhage into the cavities of the large joints, especially the knee, elbow, or hip. The patient suffers repeatedly from such hæmorrhages, the determining injury being often so slight as to have passed unobserved.
There is evidence that the tendency to bleed is greater at certain times than at others—in some cases showing almost a cyclical character—although nothing is known as to the cause of the variation.
After a severe hæmorrhage into the cellular tissue or into a joint, the patient becomes pale and anæmic, the temperature may rise to 102° or 103° F., the pulse become small and rapid, and hæmic murmurs are sometimes developed over the heart and large arteries. The swelling is tense, fluctuating, and hot, and there is considerable pain and tenderness.
In exceptional cases, blisters form over the seat of the effusion, or the skin may even slough, and the clinical features may therefore come to simulate closely those of an acute suppurative condition. When the skin sloughs, an ulcer is formed with altered blood-clot in its floor like that seen in scurvy, and there is a remarkable absence of any attempt at healing.
The acute symptoms gradually subside, and the blood is slowly absorbed, the discoloration of the skin passing through the same series of changes as occur after an ordinary bruise. The patients seldom manifest the symptoms of the bloodless state, and the blood is rapidly regenerated.
The diagnosis is easy if the patient or his friends are aware of the family tendency to hæmorrhage and inform the doctor of it, but they are often sensitive and reticent regarding the fact, and it may only be elicited after close investigation. From the history it is usually easy to exclude scurvy and purpura. Repeated hæmorrhages into a joint may result in appearances which closely simulate those of tuberculous disease. Recent hæmorrhages into the cellular tissue often present clinical features closely resembling those of acute cellulitis or osteomyelitis. A careful examination, however, may reveal ecchymoses on other parts of the body which give a clue to the nature of the condition, and may prevent the disastrous consequences that may follow incision.
These patients usually succumb sooner or later to hæmorrhage, although they often survive several severe attacks. After middle life the tendency to bleed appears to diminish.
Treatment.—As a rule the ordinary means of arresting hæmorrhage are of little avail. From among the numerous means suggested, the following may be mentioned: The application to the bleeding point of gauze soaked in a 1 in 1000 solution of adrenalin; prolonged inhalation of oxygen; freezing the part with a spray of ethyl-chloride; one or more subcutaneous injections of gelatin—5 ounces of a 2½ per cent. solution of white gelatin in normal salt solution being injected at a temperature of about 100° F.; the injection of pituitary extract. The application of a pad of gauze soaked in the blood of a normal person sometimes arrests the bleeding.
To prevent bleeding in hæmophilics, intra-venous or subcutaneous injections of fresh blood serum, taken from the human subject, the sheep, the dog, or the horse, have proved useful. If fresh serum is not available, anti-diphtheritic or anti-tetanic serum or trade preparations, such as hemoplastin, may be employed. We have removed the appendix and amputated through the thigh in hæmophilic subjects without excessive loss of blood after a course of fresh sheep's serum given by the mouth over a period of several weeks.
The chloride and lactate of calcium, and extract of thymus gland have been employed to increase the coagulability of the blood. The patient should drink large quantities of milk, which also increases the coagulability of the blood. Monro has observed remarkable results from the hypodermic injection of emetin hydrochloride in ½-grain doses.