대한흉부영상의학회 Korean Society of Thoracic Radiology

Discussion

Diagnosis With Brief Discussion

Diagnosis

Rendu-Osler-Weber Disease (Hereditary hemorrhagic telangiectasia)

Radiologic Findings

There is a sharply defined, lobulated mass in LLL, associated with tortuous feeding artery and draining vein.
A walnut sized nodule is seen in RUL and a few small nodules are noted in RLL.
Rib deformity is noted in left upper thorax, due to the previous thoracic surgery (Figs. 1, 2, 3).
Contrast enhanced chest CT (Fig. 4) shows a nodule in RUL, which is enhanced as same degree as vessel.

Continued CT scan of LLL (below, Fig.5) demonstrates the vascular mass with feeding vessels.
Enhancing tubular or nodular arterio-venous malformations (AVM) are also seen in subpleural portion of RML and RLL. Liver shows wedge shaped enhancement, considered to be arterio-portal shunt.

Left pulmonary artery angiography (Fig.6) confirms feeding artery and draining vein of AVM in LLL.

Right pulmonary artery angiography (Fig.7) shows a round contrast filled nodule in RUL and several tubular or nodular arterio-venous malformations in RLL.

Lung perfusion scan using Tc-MAA (Fig. 8) shows intense radionucleid uptake in brain, liver and both kidneys, due to the arterio-systemic shunt.

Physical examination reveals telangiectasis on tongue and audible bruit in left lower lung zone.
Arterial blood gas analysis shows hypoxemia (pO2=48.3mmHg)

All findings are consistent with Rendu-Osler-Weber disease (Hereditary hemorrhagic telangiectasia).

Brief Review

- Congenital pulmonary arteriovenous fistula (arteriovenous aneurysm, arteriovenous malformation, "angioma", "hemangioma")
- Defect in the terminal capillary loops that result in dilatation and the formation of thin-walled vascular sac
- 40-65% of patients has arteriovenous communication elsewhere, including skin, mucous membranes, and other organs.
- Simple dominant transmission
- Although vascular defects are present at birth, they are seldom manifested clinically until adult life when the vessels have been subjected to pressure over several decades
- Twice as frequently in women as in men
- Clinically asymptomatic, often complain of hemoptysis or dyspnea, cyanosis, finger clubbing, and a continuous murmur or bruit audible
- Extrathoracic manifestations; epistaxis, telangiectasis in skin or mucous membranes, and GI hemorrhage, intracerebral aneurysm, metastatic abscess, hypoxemia, cerebral thrombus, and cerebral thrombosis from secondary polycythemia.
- Vascular masses ranging in diameter from 1mm to several centimeters just beneath the pleura or adjacent to bronchovascular bundles.
- The intervening vessels may be few and markedly ectatic, resembling a cyst, or numerous and more or less uniform in diameter, resulting in a complex branching mass resembling a Medusa's head
- Common in the lower lobes and a single in about two thirds of cases
- Classic appearance; a round or oval homogeneous opacity of uniform density, somewhat lobulated in contour bur sharply defined.
- Calcifications in some cases
- Identification of the feeding and draining vessel is essential to the diagnosis.
- Spiral CT allows accurate assessment of the presence and number of arteriovenous pleural malformation, benign superior to angiography for demonstrating small lesion
- Prognosis is generally good; embolotherapy has been found to be a safe and effective treatment.

References

1. Naidich DP, Webb WR, Muller NL, Krincky GA, Zerhouni EA, Siegelman SS. Computed tomography and magnetic resonance of the thorax. 3rd ed, Philadelphia: Lippincott-Raven Publishers, 1999.
2. Fraser RS, Pare JP, Fraser RG, Pare PD. Synopsis of diseases of the chest. 2nd ed. Philadelphia: W. B. Saunders, 1994.

Keywords

Lung, Vascular, Congenital,