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Familial primary pulmonary hypertension: clinical patterns
The American Review of Respiratory Disease
|January 1, 1984
Summary
Familial primary pulmonary hypertension (FPPH) often goes undiagnosed due to incomplete family history. This study reveals autosomal dominant inheritance with variable gene expression, suggesting many nonfamilial cases share the same genetic cause.
Area of Science:
- Genetics
- Pulmonary Medicine
- Epidemiology
Background:
- Primary pulmonary hypertension (PPH) can have a familial component, but its inheritance patterns and prevalence are not fully understood.
- Incomplete family histories can lead to misclassification of familial primary pulmonary hypertension (FPPH) as nonfamilial.
- Previous studies suggest FPPH may be underdiagnosed and underreported.
Observation:
- A family with six deaths across two generations due to PPH was identified, with several cases initially undiagnosed.
- Geographically dispersed family members were unaware of the familial nature of the disease.
- Surveying previously reported FPPH families identified eight new cases in five families, indicating variable disease penetrance.
Findings:
- Familial primary pulmonary hypertension (FPPH) exhibits autosomal dominant inheritance.
- A significant finding is the infrequent and variable expression of the causative gene among affected families.
- The observed 2:1 female-to-male ratio and one instance of male-to-male transmission support autosomal dominant inheritance and exclude X-linkage.
- Survival rates after symptom onset in FPPH are comparable to nonfamilial PPH.
Implications:
- Many cases diagnosed as nonfamilial primary pulmonary hypertension (PPH) may have an underlying genetic etiology similar to FPPH.
- Improved genetic counseling and diagnostic approaches are needed for families with a history of PPH.
- Further research into the genetic factors influencing variable gene expression in FPPH is warranted.