Related articles: Hemophilia
Definition
Hemophilia is a congenital disease due to a deficiency of one of the plasma factors that participate in the coagulation process. This predisposes patients with hemophilia to unusual or excessive bleeding.
Hemophilia is a hereditary disease that derives from mutations, deletions or inversions of the genes coding for factor VIII (hemophilia A; affects about 80% of patients) or by factor IX (hemophilia B) of coagulation.
These genes are located on the X chromosome, therefore the haemophilia is transmitted as a recessive trait and affects almost exclusively the males (note: sometimes, the females that are healthy carriers may present milder symptomatic forms of the disease).
Most common symptoms and signs *
- Anemia
- Articolar pains
- Muscle pains
- Bruising
- Edema
- haemarthrosis
- Gastrointestinal hemorrhage
- Ease of bleeding and bruising
- Joint swelling
- Menorrhagia
- Paresthesia
- petechiae
- Joint stiffness
- Nosebleeds
- Blood in the urine
- Bleeding gums
- Telangiectasia
Further indications
Haemophiliac patients tend to develop spontaneous or post-traumatic haemorrhagic manifestations, such as:
- joints at the level of the joints;
- muscle, subcutaneous and subperiosteal hematomas;
- mucous hemorrhages (eg epistaxis) and bleeding in soft tissues or parenchymal organs.
After the triggering event, blood loss can be immediate or occur slowly within a few hours or a few days.
The extent of coagulation factor VIII or IX deficiency determines the probability and severity of the clinical picture; in particular, considering that the coagulating activity of these components must have levels> 30% in order for hemostasis to be normal, the following forms are distinguished:
- Severe hemophilia : coagulant activity of the deficient factor <1%; frequent and severe spontaneous organ bleeding and prolonged bleeding after minor injuries are observed, generally within the first year of life. In the most severe forms, the manifestations of haemophilia can become evident from birth, with severe cerebral bleeding.
- Moderate hemophilia : coagulant activity of the deficient factor between 1% and 5%; spontaneous bleeding is rare, but abnormal bleeding is possible after minimal trauma.
- Mild hemophilia : coagulant activity of the deficient factor> 5%; spontaneous bleeding is generally absent. Excessive bleeding may occur in these patients after severe trauma, surgery or tooth extractions.
The severity of the disease remains similar within the same family; haemophilia A and B manifest themselves with the same clinical forms (mild, moderate and severe) and with the same hemorrhagic symptoms.
Often, the first symptom that accompanies bleeding is pain. Muscular hematomas manifest themselves as a swelling of hard or wooden consistency, with very intense tenderness; the skin that overhangs the affected area is generally warm, reddened and late, it can show the signs of an outcropping ecchymosis. Furthermore, depending on the district, ischemic phenomena and paresthesia may also occur.
Other patients may have unexplained skin lesions, including petechiae (small intradermal or mucosal hemorrhages), purpura, ecchymoses (bruises) or telangiectasias (small dilated vessels, visible on the skin or mucous membranes). Subcutaneous hematomas are usually very large and dark red in color; the overlying skin is tense.
With regard to the mucous membranes, moreover, there are frequent bleeding of the oral cavity (tongue, cheeks and gums) consequent also to small traumas caused by the toothbrush, the use of dental floss or involuntary biting; less frequent are the bleeding and bleeding of the gastro-intestinal tract.
The menstrual flow can be abundant or prolonged (menorrhagia). Serious and repeated external bleeding (such as epistaxis) can cause anemia.
Hemophilia can predispose to various complications. Chronic or recurrent intra-articular bleeding (hemarthros) can lead to synovitis and arthropathy; these conditions, if neglected or inadequately treated, can cause motor deficits, rigidity, deformation of the joints and functional limitation.
Bleeding at the base of the tongue can cause a potentially fatal breathing difficulty.
The diagnosis is established through the patient's clinical and family history and the performance of some laboratory tests; the outcome of these tests typically reveals an increase in the time taken to coagulate the blood. The type and severity of hemophilia are defined by the specific dosage of factors VIII and IX. Differential diagnosis includes von Willebrand's disease and other coagulation abnormalities.
The treatment of hemophilia involves replacement therapy with the deficient coagulation factor, of plasma origin or obtained with genetic engineering (recombinant) techniques; this factor is administered if acute bleeding is suspected or to prevent a haemorrhagic episode (eg before surgery).
