Angiohemophilia

Description:

Angiohemophilia — the hereditary disease of blood which is characterized by developing of incidental spontaneous bleedings which are similar to bleedings at hemophilia. The disease is inherited by the principle of autosomal domination.
For the first time this disease was studied in 1926 by the scientist Villebrand who on the Aland Islands described a family with peculiar autosomal is prepotent the inherited hemorrhagic diathesis similar both with a trombotsitovazopatiya, and with hemophilia. It was noted that members of this family suffer from a classical form of the disease belonging to the I type. Dominant inheritance with a different proyavlyaemost of a pathological gene is confirmed. The angiohemophilia differs in it from hemophilia which is rigidly inherited and at which at all ill family members in different generations the same expressiveness of deficit of a factor of VIII is noted.

On prevalence among all hereditary hemorrhagic diathesis the angiohemophilia takes the 3rd place after trombotsitopatiya and hemophilia And.

Angiohemophilia symptoms:

Expressiveness of a hemorrhagic syndrome at an angiohemophilia varies from very easy forms with seldom observed nasal bleedings and small hemorrhages in skin to extremely heavy options with very frequent, long and plentiful bleedings of the most various localization, formation of hematomas and big hemorrhages in soft tissues and in internals. Sometimes there are hemorrhages in joints.

The hemorrhagic syndrome at the I type is much heavier, than at IIA and IIB disease types.

It should be noted that intensity of bleedings of the most various localization (gastrointestinal, uterine, nasal) often does not correspond to disturbance of koagulyatsioiny and vascular and platelet hemostases.

In particular, against the background of moderate disturbances in these links of a hemostasis catastrophic bleedings of any one localization persistently repeat. In similar cases it is necessary to think of some additional local vascular or stromal displaziya provoking bleedings. Their identification requires a careful additional research of mucous membranes of a nose, pharynx and throat, an oral cavity, a stomach and intestines (a rinoskopiya, a laringoskopiya, a fibroduodenogastroskopiya, a kolonoskopiya). On mucous membranes vascular educations in the form of superficially located expanded and gyrose vessels with a diameter of 1-2 mm which are easily giving the plentiful, difficult stopped bleedings quite often are found.

It is known that such vascular educations, are more often - an arteriovenous anastomosis, serve as the reason of the repeating gastrointestinal bleedings. This anastomosis is most dangerous at an angiohemophilia when the main mechanisms of stopping of bleedings are broken.

It should be noted that the angiohemophilia combination to angiodysplasias and other defects of connecting fabric cannot be considered accidental. At patients with this disease the prolapse of shutters mitral and other valves of heart, mistakenly diagnosed without echocardiography as rheumatic mitral heart disease often comes to light.

In the same light it is necessary to consider angiohemophilia combinations to a skin hyperelastosis, a relaxation of ligaments (frequent and habitual dislocations, looseness of joints, are more rare - Marfan's syndrome).

Intensity of bleeding has direct dependence on level of a factor of VIII in plasma that should be considered both at injuries, and at surgical interventions.

At diagnosis of a disease of Villebrand are based on set of the following signs: autosomal and dominant inheritance of a disease, bleeding, considerable lengthening of a bleeding time.

A number of the important functional characteristics facilitating recognition of the reduced angiohemophilia options is added to the main diagnostic characters.

At an angiohemophilia gradual, but not immediate increase of activity of a factor of VIII in plasma patients after a transfusion of anti-hemophilic plasma comes to light.

The correctional effect of a transfusion much more surpasses quantity of the entered factor of VIII.

It is remarkable considerably big, than at hemophilia, duration of effect of single transfusion - about 36 h that is characterized by bigger life expectancy in circulation of the recipient of a factor of VIII.

The most informatively quantitative definition of a factor of Villebrand in the patient's plasma.

The listed diagnostic characters allow to reason in most cases accurately the diagnosis of an angiohemophilia, to define its weight and a form.

Kapillyaroskopichesky changes (irregularity and twist of loops of capillaries, their club-shaped expansions) in diagnosis of an angiohemophilia do not use as they come to light less than at a half of patients and not a patognomonichna, however together with it they are very demonstrative and promote the correct diagnosis.

The autosomal and recessive form of an angiohemophilia is an independent disease. At heterozygotes the disease proceeds absolutely or almost asymptomatically whereas at homozygotes extremely heavy bleeding at almost total absence of a factor of VIII in plasma is observed. However damage of joints and other parts of a musculoskeletal system, despite such major deficit of a factor of VIII, nevertheless is much easier, than at hemophilia.

Villebrand etiologies:

Disturbance of synthesis of the main krupnomolekulyarny component of the factor of VIII called also by Villebrand's factor is the cornerstone of pathogenetic mechanisms of an angiohemophilia.

According to above-mentioned characteristics distinguish "classical" type of an angiohemophilia (type I) at which there is more or less expressed paresis of synthesis of the considered factor with concordant decrease in plasma of all its components and the corresponding lack or reduction of contents in a vascular endothelium.

Alternative forms of a disease (type II) at which there are qualitative anomalies of multimeasured structure and properties of components of a factor VIII differ from this type.

The disease on domination of deficit of components of a factor of VIII is ranked as plasma defects of a hemostasis. By more profound consideration with not smaller right it can be carried to primary vascular diseases as easing or a perversion of synthesis of a factor of Villebrand in an endothelium of blood vessels - the only place of its education in an organism is the cornerstone of a disease.

The old name of a disease "angiogemophilia" very close to the correct understanding of its essence though now it is seldom used.

Treatment of the Angiohemophilia:

The most important pathogenetic point in therapy contributing to normalization (often only time) all broken haemo static functions, is transfusion therapy – administration of the haemo drugs containing a complex of a factor VIII, including Villebrand's factor.

For this purpose most often use anti-hemophilic plasma and cryoprecipitate.

Besides, under the influence of Villebrand's factor entered from the outside own products of a factor of VIII therefore replacement therapy of an angiohemophilia demands much more rare transfusions and smaller doses of haemo drugs, than treatment of hemophilia raise And. Single transfusions of anti-hemophilic plasma or cryoprecipitate increase level of a factor of VIII by the end of the first days honor concentration of the factor of Villebrand decreases to 100% then its concentration higher than 50% is maintained independently during 36 h However, earlier owing to what the platelet and vascular hemostasis is broken at even high VIIIk level in plasma again. The fact that at an angiohemophilia transfusion therapy more with firmness and reliably supports level of a factor of VIII and warns postoperative bleedings is explained by it, than stops microcirculator bleedings (uterine and nasal). In this regard administration of haemo drugs (anti-hemophilic plasma, cryoprecipitate) at least 1 time in 2 days and in a single dose not less than 15 PIECES/kg is the most reasonable.

Correction develops gradually therefore before surgical interventions of a transfusion begin in 2-4 days prior to operation, and at childbirth – at the very beginning of patrimonial activity.

As the indication to replacement therapy serve plentiful and long bleedings of any localization though at uterine bleedings such treatment is not always effective.

Transfusions of trombotsitny weight at an angiohemophilia are inefficient as dysfunction of thrombocytes at this disease is secondary. For the same reason at an angiohemophilia there were ineffective also many pharmacological drugs which are applied at trombotsitopatiya - ATP, magnesium salts, serotonin, etc.

Use in treatment of an angiohemophilia arginine - a terminal synthetic analog of vasopressin is essentially new.

At slight and medium-weight diseases efficiency of aminocapronic acid in doses to 0,2 g/(kg/days) which is applied at all bleedings of microcirculator type, including at uterine bleedings from the first day of a menstrual cycle before the termination of periods is proved.

It is necessary to avoid combined use of aminocapronic acid, contraceptive drugs and cryoprecipitate as such treatment can be complicated by the disseminated intravascular blood coagulation or fibrinferments. Nasal bleedings stop the same as at hemophilia.