F.P. Weber-Syndrom

F P Weber syndrome (FPWS) is a traditional eponymous denomination of a certain type of angiodysplasia, that would nowadays rather be called a mixed hemolymphatic congenital vascular malformation (CVM) with arteriovenous (AV) shunting, based on the Hamburg classification of CVMs.

In his original article dating from 1907, long before the advent of vascular imaging, F P Weber described a proportionate hemihypertrophic limb with vascular malformations that, from today's state of knowledge, fulfilled the criteria of arteriovenous shunts.

In the older literature, F P Weber syndrome was often linked or even confused with other syndromic malformations of the vascular and skeletal system such as the Klippel-Trénaunay syndrome or the Servelle-Martorell syndrome. It has become clear in the meantime that many cases of congenital peripheral AV shunts do not include all features of the classical descriptions, so that pure FPWS cases are hard to find. However, the syndrome is still seen as a distinct self-contained entity.

Epidemiology

Incidence is unknown. Sporadic occurrence is the rule. There is evidence that FPWS in some instances is due to mutations in the gene that encodes p120-Ras GTPase-activating protein.

Pathology

Congenital vascular malformation with predominant arteriovenous shunting, combined with capillary, and sometimes lymphatic or venous malformations. In "classical" FPWS, skeletal abnormalities, such as gigantism or hemihypertrophy are present. The vascular components tend to increase in size over time.

Radiographic features

Diagnostic imaging in CVMs is based on a multimodality approach. Color Doppler and thermography can detect arteriovenous shunts.

MRI and MRA have proved helpful in the detection and characterization of arteriovenous dysplasias, especially when time-resolved imaging is used.

Arteriography is required to prepare surgical or endovascular interventions. Diagnostic angiography is almost never performed at the same time with an intervention. The angiographic findings have first to be carefully evaluated, preferentially by a board of specialists.

Selective balloon occlusion arteriography is the traditional gold standard in detecting extensive AV fistulae along the whole axis of an extremity.

Treatment and prognosis

Repeated endovascular embolization or skeletonisation surgery is often required. The disease is nonetheless progressive and may lead to amputation or death from cardiac failure.

History and etymology

Frederick Parkes Weber (1863-1962) was a British physician and dermatologist .

Siehe auch:

• Arteriovenöse Malformation
• Sturge-Weber-Krabbe-Syndrom
• Klippel-Trénaunay-Weber-Syndrom
• PIK3CA-related overgrowth spectrum (PROS)
• Hamburger Klassifikation der Vaskulären Malformationen

und weiter:

• kongenitale vaskuläre Malformationen