What is phorphic hemophilia?

Porphiric hemophilia is a rare inherited bleeding disorder caused by a deficiency of a blood-clotting protein called factor XI (also known as plasma thromboplastin antecedent or PTA). It is associated with a group of disorders called porphyrias, which are characterized by the overproduction of certain chemicals called porphyrins.

Signs and symptoms of porphiric hemophilia can include:

- Easy bruising

- Prolonged bleeding from cuts or injuries

- Nosebleeds

- Heavy menstrual bleeding

- Bleeding from the gums

- Blood in the urine or stool

Porphyrias can also cause a variety of other symptoms, such as:

- Skin sensitivity to sunlight

- Blisters or sores on the skin

- Abdominal pain

- Nausea and vomiting

- Constipation or diarrhea

- Muscle weakness

- Tingling or numbness in the hands or feet

- Headaches

- Seizures

- Mood changes

- Mental confusion

Porphiric hemophilia is inherited in an autosomal dominant manner, which means that only one copy of the affected gene is needed to cause the disorder. However, the severity of the bleeding symptoms can vary widely from person to person.

Treatment for porphiric hemophilia typically involves:

- Avoiding triggers that can cause porphyria attacks, such as sunlight, certain medications, and alcohol

- Taking medications to control porphyria symptoms

- Receiving blood transfusions or clotting factor replacement therapy to treat bleeding episodes

With proper treatment, most people with porphiric hemophilia can live normal, active lives.