Factor V Leiden - A silent killer

My journey started in 1992, and it took around seven years (and three miscarriages) to receive a proper diagnosis.

During my first pregnancy in 1992, my gynaecologist suggested that I take half a Disprin under my tongue each morning to prevent high blood pressure, so I did. My baby was born three weeks prematurely by C‑section after going into distress. They managed to save her, but we both developed a severe infection. The doctor said they could not determine the cause and reassured me that it would not happen again.

Two years later, I fell pregnant again. At my 12‑week appointment, I started bleeding in the doctor’s rooms and was admitted to hospital. After three days everything seemed fine, and I was discharged. My husband played cricket and rugby in his spare time, so the Friday after my discharge we went to a cricket match. When we returned home around 11:30 p.m., I felt exhausted and fell asleep on the couch. When my husband woke me to go to bed, I stood up and there was an explosion of blood. Back to the hospital we went, and the next morning an ultrasound showed that the baby no longer had a heartbeat. It also revealed a large amount of blood around the baby. I had a D&C and was discharged the same day.

On Monday, my husband didn’t want me to stay alone at home, so I went to my parents’ house. Around 11 a.m. I felt a strange sensation and went to the bathroom. As I walked in, it felt like a bomb exploded — blood everywhere. My dad phoned the gynaecologist, who instructed us to return to hospital, where they drained the blood. Again, they said it was unexplainable and reassured me it would not happen again.

Three years later, while standing in the banking hall just after closing (I worked in a bank), I had the same explosion of blood. My boss phoned my husband, who fetched me. When the bleeding slowed, the gynaecologist told us to come in the next morning. An ultrasound showed some growths in my uterus. I was booked into a day clinic for the next day. Tests revealed the growths were actually the remains of a baby at approximately four months gestation.

In 1999, my period skipped, and a pregnancy test was positive. I scheduled an appointment with a new gynaecologist, as the previous one had relocated. He performed an ultrasound but saw no sign of a pregnancy. He offered a blood test to ease my mind but said he didn’t believe I was pregnant. Later that afternoon his office called to confirm that I was. We booked an appointment for two weeks later.

A week later, I was involved in a minor car crash. There were no injuries, but two days afterward I experienced spotting. My husband phoned the gynaecologist, who said that if it was a miscarriage, nothing could stop it, but asked me to come in the next morning. The spotting stopped, and I went to see him as requested. Because of my miscarriage history, he decided to see me every two weeks.

In week 22 of the pregnancy, at the end of September, I woke up with strange pains that felt like period cramps. By 3 p.m. the pain was severe. We phoned the gynaecologist, who asked me to go to the hospital. They performed tests and an ultrasound. The baby seemed fine. The radiologist showed me the baby urinating, then having hiccups, and finally lifting a tiny arm. “Look, Mommy, baby is saying bye,” she said.

The gynaecologist diagnosed a bladder infection and kept me overnight. At 9 p.m. I got up to go to the bathroom and wet myself. Embarrassed, I cleaned it up with paper towels, but it happened again as soon as I climbed back into bed. I rang the bell, and the nurse kindly changed the bed. I had barely settled when the gynaecologist walked in, his expression serious. He sat at my bedside and told me, “Your water broke. The baby won’t survive. I’m so sorry.” He promised he would find out why this kept happening and left to phone my husband, who came immediately. Together we went through labour, and in the early morning our beautiful baby girl, who looked exactly like her big sister, was stillborn. They took her away in a kidney tray. I never held her — my biggest regret. I began bleeding heavily and was rushed to theatre, where they managed to stop the bleeding. I was discharged the next day.

On 13 December, the gynaecologist phoned and asked us to come in. On 14 December, he told me I had Factor V Leiden, an inherited genetic mutation that causes blood to clot too easily.

On the night of Thursday, 16 December, I felt muscle pain in my left leg. We had played a longer squash match than usual the night before, so I assumed it was from that. On Friday at work, the pain worsened, and I booked an appointment with my GP. He sent me for blood tests. At 6 a.m. the next morning, he phoned asking me to go to hospital — the tests showed a blood clot. At the hospital, the attending doctor insisted I was too young to have a clot and said it was probably a sports injury. After a venogram, it was confirmed as a clot, and I was placed on Warfarin. After struggling to lower my INR, the same haematologist who diagnosed the Factor V Leiden determined that I was Warfarin‑resistant. Most people need 2.5 to 5 mg to maintain stable INR levels. I ended up needing up to 37.5 mg a day.

What does “equity” mean in my story?

Treatment in the early years was extremely difficult. Medical personnel, medical aid staff, and pharmacies did not know what Factor V Leiden was. My parents decided they did not want to know who had passed the gene on, and I respected their wishes. Dr Emma Wypkema, my haematologist, helped me immensely. My daughter also inherited the gene and had her first clot at age 24. I was finally taken off Warfarin in 2020 and now take Rivaroxaban and Cardio Disprin.

Day‑to‑day life:

Warfarin changed my life in many ways. My eyesight deteriorated. I had to stop playing squash because injuries could lead to dangerous bleeding. I had to change my diet, especially limiting leafy green vegetables, which caused anaemia and required iron supplements. I cannot take hormone treatments, as they increase clotting risk — something my daughter struggles with deeply.

Hope and strength:

I want to donate my body to science. It gives me hope that someday there will be better understanding and better treatment. My daughter does not want children, knowing they would inherit the same gene, and I understand her decision. We have a number of exotic pets, and they bring me great comfort.

What I want others to understand about rare diseases:

I believe there are many people in South Africa who remain undiagnosed. One of the leading contributors to blood clots is the use of contraceptive pills. I wish doctors would test women for clotting disorders before prescribing them.