Table 1. Clinical findings in the four living affected individuals.
| Clinical Characteristics | IV-2 | V-1 * | V-2 | VI-1 |
|---|---|---|---|---|
| Head & Neck | ||||
| Nose | ||||
| Spontaneous, recurrent epistaxis (onset childhood) | Yes | Yes | Yes | Yes |
| Nasal mucosa telangiectases | Yes | Yes | Yes | Yes |
| Mouth | ||||
| Lip telangiectases | ||||
| Tongue telangiectases | Yes | Yes | ||
| Palate telangiectases | Yes | |||
| Cardiovascular | ||||
| Vascular | ||||
| Venous varicosities | Yes | Yes | ||
| Respiratory | ||||
| Dyspnea | Yes | Yes | Yes | |
| Cyanosis | Yes | Yes | ||
| Abdomen | ||||
| Gastrointestinal | ||||
| GI hemorrhage (onset usually in 5th -6th decade) | Yes | |||
| Angiodysplasia | Yes | |||
| Telangiectases (stomach, duodenum small bowel and colon) | Yes | |||
| Melena | Yes | |||
| Hematochezia | Yes | |||
| Hematemesis | Yes | |||
| Skeletal | ||||
| Hands | ||||
| Finger pad telangiectases | Yes | |||
| Clubbing | Yes | Yes | ||
| Skin, Nails, & Hair | ||||
| Skin | ||||
| Telangiectases (specially on tongue, lips, palate, fingers, conjunctiva, trunk, nail beds, and fingerprints) | Yes | Yes | ||
| Neurologic | ||||
| Migraine headache | Yes | Yes | Yes | |
| Seizures | Yes | |||
| Brain Abscess | Yes | Yes | ||
| Hematology | ||||
| Anemia | Yes | |||
| Polycythemia | Yes |
*
Patient died after clinical history was retrieved and blood sample given.