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Table 1 Characteristics of patients before and after 1 year of sirolimus treatment

From: Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study

  Sex Age Type and mutation Localisation Previous treatment Symptoms and laboratory findings Duration of sirolimus Improvement
#1 F
11y
Sporadic LM Cervico-facial with laryngeal extension Surgery
Antibiotherapy
- Physical deformation
- Speech trouble
- Infections (3/6 months)
- Poor quality of life
34 months, stopped with non-EBV lymphoma diagnosis - Physical improvement
- Functional improvement (speech)
- Reduction of Infection
- Quality of life moderately improved
- Malformation reduction on MRI
- Not evaluable with ITK-SNAP3–0
#2 F
16y
Sporadic LM
Somatic PIK3CA mutation
Retro-orbitary and nose ala Surgery
Sclerotherapy
Antibiotherapy
- Physical deformation
- Eye opening difficulty
- Continuous pain (VAS 5) with painful crisis (1–2 weekly)
- Infections (1x/3 months)
- Poor quality of life
13 months, stopped due to possibility for sclerotherapy - Physical improvement
- Functional improvement (eye opening)
- Reduction of pain (VAS 4) and painful crisis
- No infection within 13 months
- Quality of life moderately improved
- No malformation reduction on MRI
- 0.6 cm3 (6.7%) volume reduction on ITK-SNAP3–0
#3 M
3y
Sporadic LM Cervico-facial with parotid and tongue invasion Surgery
Antibiotherapy
- Physical deformation (tongue enlargement)
- Speech and mastication trouble
- Infections (1x/3 month)
- Poor quality of life
28 months, ongoing - Physical improvement
- Functional improvement (speech and mastication)
- No infection within 28 months
- Quality of life strongly improved
- Malformation reduction on MRI
- 4 cm3 (2%) volume reduction on ITK-SNAP3–0
#4 F
8y
Sporadic LM Right lower limb, buttock, pelvis, abdomen Surgery
Sclerotherapy
Antibiotherapy
- Physical deformation (limb enlargement)
- Walking, sitting and standing trouble
- Continuous pain (VAS 5) with painful crisis at defecation
- Daily rectal oozing
- Infections (1x/2 months)
- Poor quality of life
15 months, ongoing - Functional improvement (walking and standing)
- Reduction of pain (VAS 1)
- Disappearance of rectal oozing
- No infection within 15 months
- Quality of life strongly improved
- Radiological progression on MRI
- Not evaluable with ITK-SNAP3–0
#5 M
5y
Sporadic LM Diffuse, pulmonary, splenic, vertebral Antibiotherapy - Respiratory insufficiency (continuous oxygenotherapy)
- Daily hemoptysis
- Infections (1x/month)
- Altered growth
- Poor quality of life
41 months, ongoing - Functional improvement (decreased oxygen-dependency)
- Reduction of hemoptysis
- Reduction of infection (2x/year)
- Quality of life moderately improved
- No size reduction on MRI
- Not evaluable with ITK-SNAP3–0
#6 F
10y
Sporadic LM
Somatic PIK3CA mutation
Right lower limb, buttock, pelvis, abdomen Surgery
Sclerotherapy
Antibiotherapy
- Physical deformation (right foot enlargement)
- Walking, sitting and standing trouble
- Continuous pain (VAS 6) with painful crisis (5–10/month)
- Infections (1x/2 months)
- Poor quality of life
32 months, ongoing - Physical improvement
- Functional improvement (walking, sitting and standing)
- Reduction of pain (VAS 1)
- Reduction of infections (2x/year)
- Quality of life strongly improved
- Size reduction on MRI
- Not evaluable with ITK-SNAP3–0
#7 M
4y
GLA
PIK3CA mutation
Right lower limb, lower back, abdomen, buttock LMWH
Antibiotherapy
- Physical deformation (limb enlargement)
- Walking and standing difficulties
- Infection (1x/2 month)
- Poor quality of life
48 months, ongoing - Physical improvement
- Functional improvement (walking and standing)
- Reduction of infection (2x/year)
- Quality of life strongly improved
- Radiological progression on MRI
- Not evaluable with ITK-SNAP3–0
#8 F
9y
GLA
TIE2 mutation
Left lower limb, buttock, bones, uterine, pelvis, abdomen LMWH
Antibiotherapy
- Physical deformation (limb enlargement)
- Sitting and walking difficulties
- Continuous pain (VAS 7) with painful crisis (1–5/month)
- Daily gynecological oozing
- Infections (1x/month)
- Poor quality of life
44 months, ongoing - Physical improvement
- Functional improvement (sitting and walking)
- Disappearance of pain (VAS 0)
- Disappearance of gynaecological oozing
- Disappearance of infection
- Quality of life strongly improved
- Malformation reduction on MRI
- 120 cm3 (7.6%) volume reduction on ITK-SNAP3–0
#9 F
64y
Sporadic VM
Somatic PIK3CA mutation
Left lower limb, buttock, perineum, colon, spleen, liver, vagina Surgery
LMWH
Elastic contention
- Physical deformation (limb enlargement)
- Dressing, standing and walking trouble
- Continuous pain (VAS 10) with painful crisis (10–20/month)
- Daily gynaecological bleeding
- Poor quality of life
- Elevated D-dimer levels (5524 ng/ml)
- Low fibrinogen levels (127 mg/dl)
35 months, ongoing - Physical improvement
- Functional improvement (dressing and walking)
- Disappearance of gynaecological bleeding
- Reduction of pain (VAS 5)
- Quality of life strongly improved
- No malformation reduction on MRI
- 118 cm3 (17.2%) volume reduction on ITK-SNAP3–0
- Decreased D-dimer levels (1799 ng/ml)
- Fibrinogen levels normalization (254 mg/dl)
#10 F
20y
Sporadic VM
Somatic TIE2 mutation
Left upper limb Surgery
Sclerotherapy
LMWH
Elastic contention
- Left upper limb mobilisation difficulties
- Continuous pain (VAS 7) and painful crisis (5–10/month)
- Poor quality of life
- Elevated D-dimer levels (1200 ng/ml)
- Normal fibrinogen levels (274 mg/dl)
1 month, stopped for grade 3 mucositis - No functional improvement
- No pain reduction
- No quality of life improvement
#11 M
18y
Sporadic VM
Somatic TIE2 mutation
Right upper limb Surgery
Sclerotherapy
LMWH
Elastic contention
- Physical deformation (Right hand deformed)
- Wrist and thumb mobility difficulties
- Continuous pain (VAS 3) with daily painful crisis
- Poor quality of life
- Elevated D-dimer levels (2766 ng/ml)
- Normal fibrinogen levels (235 mg/dl)
2 months, stopped for grade 3 mucositis - Functional improvement (wrist and thumb mobilisation)
- Reduction of pain (VAS 2) and painful crisis (1-2x/week)
- Quality of life strongly improved
#12 M
54y
Sporadic VM
Somatic TIE2 mutation
Right lower limb, buttock, lower back Surgery
Sclerotherapy
LMWH
Elastic contention
- Physical deformation (buttock asymmetry)
- Sitting, standing and walking difficulties
- Continuous pain (VAS 3) with painful crisis (5–10/month)
- Poor quality of life
- Elevated D-dimer levels (3174 ng/ml)
- Normal fibrinogen levels (307 mg/dl)
48 months, ongoing - Physical improvement
- Functional improvement (walking, sitting position, no need for elastic contention)
- Reduction of pain (VAS 1)
- Quality of life strongly improved
- No malformation reduction on MRI
- 40 cm3 (2.4%) volume reduction on ITK-SNAP3–0
- - Decreased D-dimer levels (1908 ng/ml)
#13 F
19y
Multifocal sporadic VM
Somatic TIE2 mutation
Thorax, back, 4 limb Surgery
Sclerotherapy
LMWH
Elastic contention
- Muscular weakness, difficulties in walking, writing, doing sport
- Continuous pain (VAS 8) with painful crisis (1–5/month)
- Poor quality of life, severe mood alteration
- Elevated D-dimer levels (7587 ng/ml)
- Normal fibrinogen levels (319 mg/dl)
28 months, ongoing - Functional improvement (walking and writing)
- Reduction of pain (VAS 5)
- Quality of life moderately improved
- Radiological progression on MRI
- 0.1 cm3 (0.5%) volume reduction on ITK-SNAP3–0
- Decreased D-dimer levels (1048 ng/ml)
#14 M
39y
Sporadic VM
Somatic TIE2 mutation
Left parieto-temporal region Surgery
LMWH
- Continuous pain (VAS 8) and frequent headache
- Poor quality of life, severe mood alteration
- Normal D-dimer levels (330 ng/ml)
- Normal fibrinogen levels (382 mg/dl)
1 month, stopped spontaneously Patient not evaluable
#15 F
23y
Sporadic VM
Somatic PIK3CA mutation
Right ankle Surgery
Sclerotherapy
LMWH
Antalgic
Elastic contention
- Physical deformation (Ankle enlargement)
- Ankle mobility and walking difficulties
- Continuous pain (VAS 7) with painful crisis (1–5/month)
- Poor quality of life
- Elevated D-dimer levels (1350 ng/ml)
- Normal fibrinogen levels (315 mg/dl)
32 months, ongoing - Physical improvement
- Functional improvement (walking improvement, no need for elastic contention)
- Reduction of pain (VAS 2)
- Quality of life strongly improved
- Malformation reduction on MRI
- 1.7 cm3 (12.1%) volume reduction on ITK-SNAP3–0
- D-dimer levels normalization (460 ng/ml)
#16 F
9y
CVM
No TIE2 mutation
Pelvis, uterine and rectal extension LMWH
Exacyl
Transfusion
- Physical deformation
- Sitting, standing and walking troubles
- Daily rectorrhagia
- Poor quality of life
- Elevated D-dimer levels (1292 ng/ml)
- Normal fibrinogen levels (356 mg/dl)
13 months, ongoing - Functional improvement
- Decreased rectal bleeding intensity
- Decrease transfusions
- Quality of life strongly improved
- Malformation reduction on MRI
- 37.2 cm3 (34.5%) volume reduction on ITK-SNAP3–0
- Decreased D-dimer levels (968 ng/ml)
#17 F
14y
KTS
Somatic PIK3CA mutation
Right thigh, buttock, abdomen, vagina Surgery
Sclerotherapy
Antalgic
Antibiotherapy
- Physical deformation (thigh enlargement and abdomen asymmetry)
- Muscle weakness, sitting and walking trouble
- Gynaecological bleeding (2x/week)
- Daily abdominal oozing
- Infections (1x/3 month)
- Poor quality of life
- Elevated D-dimer levels (1685 ng/ml)
- Normal fibrinogen levels (371 mg/dl)
26 months, stopped for surgery eligibility - Physical improvement (thigh volume reduction and improved coloration)
- Functional improvement (disappearance of mobility trouble)
- Reduction of bleeding
- Disappearance of oozing
- Disappearance of infections
- Quality of life moderately improved
- Malformation reduction on MRI
- 68 cm3 (18.8%) volume reduction on ITK-SNAP3–0
- Decreased D-dimer levels (800 ng/ml)
#18 F
30y
KTS
No TIE2 or PIK3CA mutation
4 limbs, trunk Surgery
LMWH
Antibiotherapy
Elastic contention
- Physical deformation (left hemi-body hypertrophy)
- Continuous pain (VAS 6) with painful crisis (> 20/month)
- Daily oozing
- Infections (1x/3 month)
- Poor quality of life
- Elevated D-dimer levels (5609 ng/ml)
- Normal fibrinogen levels (414 mg/dl)
16 months, stopped due to pain reappearance - Reduction of pain (VAS 2)
- Reduction of oozing
- Reduction of infections
- Quality of life moderately improved
- No malformation reduction on MRI
- Not evaluable with ITK-SNAP3–0
- Decreased D-dimer levels (951 ng/ml)
#19 M
16y
PHTS
Mutation in PTEN
Right upper limb, shoulder Sclerotherapy - Physical deformation
- Mobility difficulty
- Continuous Pain (VAS 4) with painful crisis (1 monthly)
- Poor quality of life
- Elevated D-dimer levels (889 ng/ml)
- Normal fibrinogen levels (410 mg/dl)
13 months, ongoing - Physical improvement
- Functional improvement (mobility)
- Disappearance of pain (VAS 0)
- Quality of life strongly improved
- No malformation reduction on MRI
- Not evaluable with ITK-SNAP3–0
- D-dimer levels normalization (459 ng/ml)
  1. F female, M male, y years, LM lymphatic Malformation, GLA Generalized Lymphatic Anomaly, VM Venous Malformation, CVM Capillary Venous Malformation, KTS Klippel-Trenaunay Syndrome, PHTS PTEN Hamartoma Tumour Syndrome, LMWH Low Molecular Weight Heparin, VAS Visual Analogue Scale, MRI Magnetic Resonance Imaging