Family History
A patient’s family history may identify genetically inherited diseases transmitted in an autosomal dominant, recessive or X-linked manner. You may also identify familial diseases that run in families but are multifactorial and strongly influenced by environmental factors. Mental health disorders and cardiovascular disease are common examples.
Occasionally you’ll identify current illnesses in the household that affect your differential diagnosis. If you learn that a family member has influenza or carbon monoxide poisoning, the likelihood that your patient has the same diagnosis rises. How much you ask depends on your patients presenting illness, and should be tailored to the situation. The family history may be shorter in the Emergency Department but longer in a Pediatrics or Oncology or Genetics Clinic.
Approach #1
You can ask if any illnesses are common in the family:
- “Are there any illnesses that run in your family?”
- “Has anyone in your family been seriously ill?”
- “Does anyone in your family have diabetes? Heart problems? Cancer?”
- “Has anyone in the family had a similar problem to yours?”
Approach #2
You can ask specifically what illnesses parents, grandparents, children, and siblings have or died from.
Age for all relatives is important. Age of death is useful – especially if unusually young or old. For example, coronary artery or heart attacks are not typically seen in 30-year-olds and may indicate a familial underlying condition which predisposes your patient to increased risk.
This gives you information on first degree relatives – the most strongly associated and some second-degree relatives. Some of the screening criteria recommendations are based on illnesses in first-degree relatives e.g. colon cancer screening recommendations change if you have a first degree relative with colon cancer diagnosed.
Be aware that patients may not know what illnesses family members had or may not be in contact with family members – “unknown” is an acceptable answer.
Documenting the family history
Family history can be presented in one of two formats: listed by relative or listed by disease state.
By relative (can also be in genogram format)
- Mother – living – 79 years – rheumatoid arthritis, hypertension
- Father – deceased – 57 years – colon cancer
- Maternal Grandmother – deceased -79 – rheumatoid arthritis, “stroke”
- Maternal Grandfather – deceased – 45 – “cancer”
- Paternal Grandmother – deceased -89 –” stroke”, diabetes
- Paternal Grandfather – deceased -45 – “stroke”
By disease state
- Cancer – Father deceased 57 colon, Maternal grandfather deceased 45 “cancer”
- Hypertension – Mother 79 living
- Stroke – Maternal & Paternal grandmothers deceased 79 & 89, Paternal grandfather 45
- Rheumatoid arthritis -Mother 79 living, Maternal grandmother deceased 79
- Diabetes -Paternal grandmother deceased 89
Example: Family History
As our patient with headache shares her family history, she shares a diagnosis she’s worried about because it affected her aunt. This is useful in two ways. First, there ARE genetic causes of brain aneurysms. Second, even if an aneurysm is not the diagnosis, it’s helpful for the physician to know that is something the patient is concerned about, so she can address it specifically.