Living with Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
A rare inherited clotting condition with a tendency to form blood clots, caused by low levels of a blood protein.
Understanding Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
It is caused by low plasma levels of histidine-rich glycoprotein (HRG). Symptoms depend on where a clot forms and can include headaches, double vision, progressive pain, limb swelling, itching or ulcers, and brownish skin discoloration.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Abnormal blood clots (thrombosis)
- Greater tendency to clot
- Repeated blood clots
- Low HRG level in the blood
- Limb swelling
- Skin ulcers or brown skin color
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, blood and bone marrow specialists, bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in HRG are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Blood and bone marrow specialists (hematologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Blood Clot Alliance
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the HRG gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: hereditary thrombophilia due to congenital hrg deficiency; thrombophilia 11 due to hrg deficiency; thrombophilia due to histidine-rich glycoprotein deficiency; thrombophilia due to hrg deficiency
Patient organizations
- National Blood Clot AllianceHereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency · United States
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