Table I: Summary of CLAs
| GLA | GSD | KLA | CCLA | |
|---|---|---|---|---|
| Older terminology | Lymphangiomatosis, Diffuse Lymphatic Malformation | Vanishing bone disease | Lymphangiomatosis | Lymphangiectasia, channel type, Lymphatic anomaly |
| Distinguishing feature | Disease affecting multiple parts of the body | Progressive bone loss | Spindled LEC, low platelets, hemorrhages, High Ang2 | Abnormal structure and function of central lymphatic vessels |
| Genetics | Somatic PIK3CA | Somatic KRAS | Somatic NRAS; Somatic CBL; Somatic HRAS | Somatic ARAF; Somatic BRAF; Somatic KRAS; Germline EPHB4; Germline MDFIC |
| Pathway | PI3K/AKT/mTOR and RAS/MAPK | RAS/MAPK pathway | RAS/MAPK pathway | RAS/MAPK pathway |
Figure 12: Overview of CLA
Symptoms of CLAs
While symptoms vary between conditions and individuals, the following is a list of symptoms most commonly reported by CLA patients:
- Persistent/progressive Coughing, wheezing, shortness of breath
- Persistent/progressive pain and swelling of affected areas.
- Bone fractures (spontaneous or after minor trauma)
- Recurring infection or respiratory disease
- Abdominal or pelvic pain
- Skin lesions
- Internal bleeding
