Living with Corticosteroid-binding globulin deficiency
A condition with subtle signs, mainly tiredness and sometimes low blood pressure, that can run in families.
Understanding Corticosteroid-binding globulin deficiency
Many people have low blood pressure (hypotension). Some have a fatty liver or long-term pain, especially in the muscles. Features vary, even within one family. Many people have only one or two features, and some have none and are only diagnosed after a relative is found to have it. Some people also have myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). It usually shows up in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extreme tiredness (fatigue)
- Low blood pressure (hypotension)
- Lack of energy and strength (asthenia)
- Muscles that tire easily
- Low blood cortisol level
- Anemia
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 genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in SERPINA6 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
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 rare disease patient organizations for support
- 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 SERPINA6 gene. It can be inherited in an autosomal dominant way (one changed copy is enough) or an autosomal recessive way (a changed copy from each parent).
Also known as: cbg deficiency; transcortin deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Corticosteroid-binding globulin deficiency.
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