American Journal of Medicine, internal medicine, medicine, health, healthy lifestyles, cancer, heart disease, drugs

Site-Seeing: Hereditary Hemorrhagic Telangiectasia with Native-Valve Endocarditis

The patient had multiple telangiectasias. (A) These were evident on the fingertips. (B) The oral mucosa was also affected.

The patient had multiple telangiectasias. (A) These were evident on the fingertips. (B) The oral mucosa was also affected.

A 69-year-old Japanese man had 2 disparate illnesses with a comparable sign. The first, an undiagnosed genetic disease, made him more susceptible to the second. He was admitted to our hospital after reporting a 1-month history of chills, malaise, anorexia, pain in the left knee, and blurred vision in the right eye. He denied urinary symptoms and had not recently undergone any dental or surgical procedures. The patient also had diabetes mellitus, but his adherence to therapy was poor. In addition, he had been experiencing recurrent spontaneous episodes of epistaxis over several decades. One year prior to admission, he noticed unusual color changes in his fingertips and oral cavity. He had no family or social history of note.

Assessment

On physical examination, the patient’s temperature was 38.0°C (100.4°F). He had a grade II/VI systolic murmur that was best heard at the lower left sternal border. Splinter hemorrhages were visible under the nail of his right index finger, and 1–2-mm vascular anomalies marked the pulps of his fingertips (Figure 1). These lesions blanched with pressure and regained color with release. The skin on his right middle finger was desquamated. He had facial telangiectasias, and vascular anomalies, like those on his fingertips, marked his oral mucosa and the top and bottom surfaces of his tongue (Figure 1). No dental caries were seen. Despite his complaint of left knee pain, the rest of his physical examination was normal. The results of a digital rectal examination and fecal occult blood test were negative.

Laboratory studies showed the following: neutrophilia (19,180 white blood cells/µL); microcytic anemia (hemoglobin, 12.1 g/dL and mean corpuscular volume, 80.4 fL); C-reactive protein level, 14.3 mg/dL; hemoglobin A1c, 10.5%; blood urea nitrogen level, 33 mg/dL; and creatinine level, 1.23 mg/dL. Contrast-enhanced computed tomography revealed bilobar prostate abscesses, but there was no evidence of visceral arteriovenous malformations. Blood cultures yielded methicillin-sensitive Staphylococcus aureus. The patient’s cardiac murmur, combined with chills and bacteremia, strongly suggested endocarditis. While a transthoracic echocardiogram was nondiagnostic, a transesophageal echocardiogram revealed a 3-mm vegetation on the left coronary cusp of the patient’s aortic valve.

The patient had reduced visual acuity, as demonstrated by his inability to count the examiner’s fingers when using only his left eye. Further evaluation disclosed corneal edema and leukocoria, a white reflection from the retina in reaction to light. A slit-lamp examination identified vitreous exudates that obscured the fundus. B-scan ultrasonography displayed dense vitreous fluid with high opacification. Taken together, the ophthalmic findings indicated endophthalmitis.

Further investigations revealed intranasal, gastric, and duodenal angiodysplasias (Figure 2Figure 3). The gastrointestinal angiodysplasias showed mild hemorrhage. Friable nasal mucosa was also evident.

To read this article in its entirety please visit our website.

- Teiko Kawahigashi, MD, Sho Nishiguchi, MD, Joel Branch, MD, Kazuki Hiramitsu, MD, Takayuki Niitsu, MD, Izumi Kitagawa, MD

This article originally appeared in the April issue of The American Journal of Medicine.

Comments are closed.

UA-42320404-1