Hemophilia history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]
Overview
Symptoms of hemophilia include excessive bleeding and easy bruising.
History
Most patients present with bleeding during the neonatal period or with bleeding / large haematoma following minor trauma as a toddler.In the worst cases, bleeding occurs for no reason. Internal bleeding may occur anywhere and bleeding into joints is common.The severity of symptoms vary. Bleeding is the main symptom of the disease. It is often first seen when an infant is circumcised. Other bleeding problems are seen when the infant starts crawling and walking. Mild cases may go unnoticed until later in life. Symptoms may first occur after surgery or injury. Internal bleeding may occur anywhere. Around 70% of patients have the severe form of the disease characterized by spontaneous haemorrhage or haemorrhage following minor trauma.
- Characteristic symptoms vary with severity. In general symptoms are internal or external bleeding episodes, which are called "bleeds". People with more severe haemophilia suffer more severe and more frequent bleeds, while people with mild haemophilia usually suffer more minor symptoms except after surgery or serious trauma. Moderate haemophiliacs have variable symptoms which manifest along a spectrum between severe and mild forms. Internal bleeding is common in people with severe haemophilia and some individuals with moderate haemophilia. The most characteristic type of internal bleed is a joint bleed where blood enters into the joint spaces. This is most common with severe haemophiliacs and can occur spontaneously (without evident trauma). If not treated promptly, joint bleeds can lead to permanent joint damage and disfigurement. Bleeding into soft tissues such as muscles and subcutaneous tissues is less severe but can lead to damage and requires treatment.
- Children with mild to moderate haemophilia may not have any signs or symptoms at birth especially if they do not undergo circumcision. Their first symptoms are often frequent and large bruises and haematomas from frequent bumps and falls as they learn to walk. Swelling and bruising from bleeding in the joints, soft tissue, and muscles may also occur. Children with mild haemophilia may not have noticeable symptoms for many years. Often, the first sign in very mild haemophiliacs is heavy bleeding from a dental procedure, an accident, or surgery. Females who are carriers usually have enough clotting factors from their one normal gene to prevent serious bleeding problems, though some may present as mild haemophiliacs.
Symptoms of Haemophilia A and B
The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.
Excessive Bleeding
The extent of bleeding depends on how severe the hemophilia is. Children who have mild hemophilia may not have signs unless they have excessive bleeding from a dental procedure, an accident, or surgery. Males who have severe hemophilia may bleed heavily after circumcision. Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding). Signs of external bleeding may include:
- Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
- Nosebleeds for no obvious reason
- Heavy bleeding from a minor cut
- Bleeding from a cut that resumes after stopping for a short time
Signs of internal bleeding may include:
- Blood in the urine (from bleeding in the kidneys or bladder)
- Blood in the stool (from bleeding in the intestines or stomach)
- Large bruises (from bleeding into the large muscles of the body)
Bleeding in the Joints
Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. This bleeding can occur without obvious injury.
At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend.
Swelling continues as bleeding continues. Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn't treated quickly can damage the joint.
Bleeding in the Brain
Internal bleeding in the brain is a very serious complication of hemophilia. It can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include:
- Long-lasting, painful headaches or neck pain or stiffness
- Repeated vomiting
- Sleepiness or changes in behavior
- Sudden weakness or clumsiness of the arms or legs or problems walking
- Double vision
- Convulsions or seizures
Prognosis
Like most aspects of the disorder, life expectancy varies with severity and adequate treatment. People with severe haemophilia who don't receive adequate, modern treatment have greatly shortened lifespans and often do not reach maturity. Prior to the 1960s when effective treatment became available, average life expectancy was only 11 years.[6] By the 1980s the life span of the average haemophiliac receiving appropriate treatment was 50–60 years. Today with appropriate treatment, males with haemophilia typically have a near normal quality of life with an average lifespan approximately 10 years shorter than an unaffected male.Since the 1980s the primary leading cause of death of people with severe haemophilia has shifted from haemorrhage to HIV/AIDS acquired through treatment with contaminated blood products. The second leading cause of death related to severe haemophilia complications is intracranial haemorrhage which today accounts for one third of all deaths of people with haemophilia. Two other major causes of death include hepatitis infections causing cirrhosis and obstruction of air or blood flow due to soft tissue haemorrhage.
Haemophilia C
The symptoms of Haemophilia C are the same as those for other forms of haemophilia, mainly:
- Prolonged bleeding from injuries.
- Frequent or heavy nosebleeds.
- Traces of blood in the urine.
- Heavy menstrual bleeding in females.