Living with Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
A rare inherited bleeding disorder that causes bruises and bleeding of varying severity, starting in the teen years.
Understanding Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
It is caused by one amino acid swap in the alpha-1-antitrypsin protein. How easily people bleed varies. They can have hematomas (pools of blood under the skin or in tissue) that appear on their own, or after minor injury or surgery. Women can have ovarian hematomas after ovulation. It starts in the teen years.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on the summary, it can include:
- Hematomas with no clear cause
- Hematomas after minor injury or surgery
- Ovarian hematomas after ovulation in women
- Bleeding that varies in severity
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 blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in SERPINA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Alpha-1 Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Alpha-1 Foundation
- 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 Alpha-1 Foundation
- 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 SERPINA1 gene (a methionine 358 to arginine swap). It is autosomal dominant, so one changed copy of the gene is enough to cause it.
Also known as: 'antithrombin' pittsburgh; pi pittsburgh
Patient organizations
- Alpha-1 FoundationHemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation · United States
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