You might not think much about it when you get a small cut and it stops bleeding. For most people, it’s an automatic process. But for those living with a rare blood disease, this vital function, blood clotting, doesn’t work as it should. These conditions, often overlooked or misdiagnosed, can turn everyday life into a challenge.
In Pakistan, where awareness about such disorders is growing but still limited, understanding the signs can be life-changing. This article sheds light on two of the most common rare bleeding disorders: Haemophilia and Von Willebrand Disease.
What Are Rare Bleeding Disorders?
Rare bleeding disorders are conditions where the blood doesn’t clot properly due to a lack or malfunction of specific proteins, called clotting factors. They are usually inherited bleeding disorders, meaning they are passed down through families. Because the symptoms of bleeding disorders can be subtle or mistaken for other issues, many people go undiagnosed for years.
Two Sides of the Same Coin: Haemophilia & Von Willebrand
While both are platelet disorders at their core, they affect the clotting process differently.
Haemophilia: A Clotting Factor Deficiency
Haemophilia is perhaps the more widely known condition. It’s primarily caused by a severe clotting factor deficiency, most commonly Factor VIII (Haemophilia A) or Factor IX (Haemophilia B). This means a person’s blood cannot form a stable clot.
Key Haemophilia Symptoms:
- Frequent and large bruises from minor bumps.
- Prolonged bleeding from cuts, dental work, or surgery.
- Spontaneous bleeding into joints (like knees and elbows), causing pain, swelling, and, over time, joint damage.
- Unexplained nosebleeds that are hard to stop.
- Blood in urine or stool.
Von Willebrand Disease (VWD): The Most Common You’ve Never Heard of!
VWD is actually the most common of all rare bleeding disorders, but it’s often milder and harder to spot. Here, the problem is with von Willebrand factor, a protein that helps platelets stick together and carries clotting factor VIII.
Signs of von Willebrand Disease often include:
- Easy bruising and frequent nosebleeds.
- Heavy, prolonged menstrual bleeding (a major sign in women).
- Excessive bleeding after surgery, tooth extraction, or childbirth.
- Bleeding from the gums.
What Causes These Disorders & How Are They Diagnosed?
The primary causes of bleeding disorders like Haemophilia and VWD are almost always genetic, meaning they are written into a person’s DNA. They are classic examples of inherited bleeding disorders.
Understanding the Genetic Causes:
- Haemophilia is an X-linked recessive disorder. The genes responsible for making clotting Factor VIII or IX are located on the X chromosome. Since males have one X and one Y chromosome, a single faulty gene on their X chromosome will cause the disease. Females have two X chromosomes; they are typically carriers (possessing one faulty gene) and may have mild symptoms, but they can pass the gene to their children. A son born to a carrier mother has a 50% chance of having hemophilia; a daughter has a 50% chance of being a carrier. In about one-third of cases, there is no family history, resulting from a new, spontaneous mutation.
- Von Willebrand Disease is usually inherited in an autosomal dominant pattern. This means a child needs to inherit the faulty gene from just one parent to be affected. It can also be recessive or arise from a new mutation. The genetic defect affects the production, structure, or function of von Willebrand factor.
Getting a proper diagnosis of bleeding disorders is crucial to prevent complications and guide treatment. If you or a family member show early signs of bleeding disorders, the first step is to consult a physician or a haematologist (a blood disorder specialist).
The Diagnostic Pathway:
- Detailed History: The doctor will take a thorough personal and family medical history, a key clue for inherited conditions. They will ask about bleeding episodes after surgeries, dental work, childbirth, or injuries, as well as menstrual history.
- Physical Examination: Checking for signs like unexplained bruises or joint swelling.
- Specialized Blood Tests: This is how diagnosis is confirmed. Initial “screening tests” like a Complete Blood Count (CBC), Prothrombin Time (PT), and Activated Partial Thromboplastin Time (aPTT) check overall clotting function. If these are abnormal, specific “factor assays” are done to measure the exact levels of clotting factors (like VIII or IX) and von Willebrand factor activity and antigen. Platelet function tests may also be used.
In Pakistan, major diagnostic centers and hospitals in cities like Karachi (Aga Khan University Hospital, National Institute of Blood Diseases (NIBD)), Lahore (Shaukat Khanum Memorial Hospital, Punjab Institute of Cardiology), and Islamabad (Pakistan Institute of Medical Sciences – PIMS, Shifa International Hospital) have dedicated haematology departments that can perform these specialized tests. Consulting a hematologist (a blood disorder specialist) is recommended for accurate diagnosis and management.
Living Well with a Bleeding Disorder: It’s About Management, Not Limitation
A diagnosis can be overwhelming, but with proper care, individuals can lead full, active lives. Management focuses on preventing and treating bleeding episodes.
1. Proactive Medical Care:
- Establish care with a hematologist. Regular check-ups are essential.
- Carry a medical alert card stating your condition.
- Avoid medications that can worsen bleeding, like aspirin or ibuprofen, unless approved by your doctor.
2. Treatment Options:
- Haemophilia is often managed with regular infusions of the missing clotting factor (replacement therapy).
- Von Willebrand Disease may be treated with medications that boost von Willebrand factor or with factor concentrates. For women with heavy periods, hormonal treatments can help.
3. Daily Life and Quality of Life:
- Stay active safely. Exercises like swimming and walking strengthen muscles and protect joints without high impact.
- Maintain dental hygiene to prevent extractions.
- Educate your family, friends, and workplace about your condition and what to do in an emergency.
- Connect with support groups. In Pakistan, organizations like the Haemophilia Patients Welfare Society provide invaluable community support, advocacy, and information.
What You Can Do: Be Informed, Be Proactive
If this information resonates, take these steps:
- Listen to your body. Do you bruise excessively? Do minor cuts bleed for a long time? Don’t dismiss it as “just being clumsy.”
- Trace your family history. Ask relatives if there’s a pattern of unexplained bleeding issues, complications during surgery, or deaths related to bleeding.
- Seek expert advice. Talk to a doctor about your concerns. A simple blood test can start the journey to an answer.
Conclusion: Knowledge is the First Step to Care
Haemophilia and von Willebrand Disease are lifelong rare blood diseases, but they are manageable. The journey begins with recognition. By understanding the symptoms of bleeding disorders, we can break the cycle of missed diagnoses and ensure individuals get the care and support they need to thrive. Whether in Pakistan or elsewhere, increased awareness leads to earlier diagnosis, better treatment, and a vastly improved quality of life.
Disclaimer: This article is for educational purposes only and is not a substitute for professional medical advice. Always consult a qualified healthcare provider for diagnosis and treatment.
