E2270. Disease Severity and Family History in Hereditary Hemorrhagic Telangiectasia: A Retrospective Single Center Experience
  1. Muhammad Latif; Johns Hopkins University Medical Center; Johns Hopkins University School of Public Health
  2. Yingli Fu; Johns Hopkins University Medical Center
  3. Frank Yuan; Johns Hopkins University Medical Center
  4. Omid Shafaat; Johns Hopkins University Medical Center
  5. Prateek Gowda; Johns Hopkins University Medical Center
  6. Clifford Weiss; Johns Hopkins University Medical Center
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease with a highly variable clinical presentation. HHT is diagnosed clinically with Curacao score and genetically with HHT genetic mutation. The family history of HHT is one of the four required clinical criteria to diagnose HHT. The purpose of this study is to determine if disease severity is associated with a family history of HHT.

Materials and Methods:
A single-center retrospective chart review study included the patients that presented to our center of HHT excellence between January 2003 and January 2020. The family history was divided into two groups: 1) positive family history of HHT, or 2) no family history of HHT. The HHT severity score was determined based on chronic bleeding (gastrointestinal bleeding and epistaxis), presence of arteriovenous malformation (pulmonary, brain, and hepatic AVM), and severe organ involvement (symptomatic liver involvement or diffuse pulmonary AVM). Logistic regression was used to examine the association between gastrointestinal bleeding, epistaxis, presence of pulmonary, brain, liver AVMs, diffuse pulmonary AVM, heart failure, diffuse pulmonary AVM and the HHT severity score (mild, moderate, and severe) with a family history of HHT.

Four hundred and nineteen patients with a definite diagnosis of HHT were included. The mean age was 42±20 SD, range <1 to 90 years with 61% of females. In univariate analyses, except for pulmonary AVM (p = 0.01) and Epistaxis (p = 0.03), which are very common in HHT patients. None of the other severity indices including gastrointestinal bleeding (p = 0.54), brain AVM (p = 0.42) , hepatic AVM (p = 0.38), heart failure (p = 0.76), diffuse pulmonary AVM (p = 0.15) and HHT severity score (p = 0.17) had any significant associations with family history. After controlling for age, gender, and BMI, the results were the same and showing no significant associations between severity indices and family history.

The presence or absence of family history is not associated with more severe clinical HHT disease, at least when each marker for severity is considered independently. The results of this analysis are important for genetic studies of HHT in that it will allow the recruitment of HHT patients across all stages of disease severity because it does not influence familial aggregation.