2.1 Diagnosis
In the past, the term “hemangioma” was used to represent all benign
vascular lesions regardless of etiology, disease course or pathology.
Based on clinical characteristics, radiologic imaging and pathologic
findings, the International Society for the Study of Vascular Anomalies
(ISSVA) created a standardized classification system in 1996 which
broadly categorized vascular anomalies as tumors and vascular
malformations. The ISSVA classification system was most recently updated
in 2018 and can be accessed atwww.issva.org/classification.
As we will illustrate in the following 3 cases, initial presentation of
CLA is variable, and the provider needs to have a high index of
suspicion for and familiarity with these conditions in order to provide
timely diagnosis and appropriate management.
Radiologic evaluation should include imaging of the chest, abdomen,
pelvis and total spine with CT and/or MRI. If suspicion for GSD, skull
imaging is indicated. Skeletal bone survey may be used to focus imaging
needs. MR lymphangiogram can also be helpful in certain situations
[14].
Laboratory investigation should include complete blood count with
differential, D-dimer, fibrinogen, prothrombin time (PT), partial
thromboplastin time (PTT), albumin and total protein, immunoglobulins,
liver and renal function tests, electrolytes and bone turn-over markers
(alkaline phosphatase, C-telopeptide, etc.).
The extent and characteristics of the bony lesions, distribution of
viscera involvement, laboratory findings generally will provide criteria
for final diagnosis, frequently without a biopsy. In situations in which
the diagnosis is unclear despite medical history, imaging and laboratory
findings, biopsy of a soft tissue lesion is recommended over bone
biopsy. Biopsy of ribs and vertebrae should be avoided as these can
result in pleural effusions and CSF leaks [15, 16]. In patients with
KLA, biopsy may result in significant bleeding and worsen the underlying
coagulopathy. Because mutations in CLA are somatic, genetic testing of
the affected tissue, not peripheral blood, should be considered to guide
therapy.