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Dr. Edoardo Cervi
Dr. Maurizio Ronconi
Clinica Chirurgica - Spedali Civili di Brescia
Recurrence of Klippel-Trenaunay syndrome
symptoms after surgery: a single case
treated with foam sclerotherapy
HISTORY
In 1900 the French physicians Maurice Klippel and Paul Trenaunay described 2
patients with a port-wine stain and varicosoties of an extemity associated with
soft issue and bone hypertrophy and coined the term “naevus vasculosus
osteohypertrophicus”
In 1907 the eminent London physician F. Parkers Weber described
a patient with 3 aforerementioned symptoms as well as an
arteriovenous malformation of the affected extremity. He termed
the process hemangiectatic hypertrophy
Thus 1918 is became know Klippel-Trenaunay-Weber syndrome
Today, conflicting opinion exist in the literature as whether to
separately designate the original triad as Klippel Trenaunay and the
triad with arteriovenous malformation as Parkes Weber syndrome
Definition
congenital mixed vascular malformation
•
with anomalous vascular elements: veins capillaries
lymphatics
•
with abnormal bone growth
•
also called “angio-osteo-hypertrophic syndrome”
(AOH)
1. www.orpha.net
2. Klippel-Trenaunay syndrome: current management. P. Gloviczi, D J Driscoll; Phlebology 2007; 22:
291-2983.
Epidemiology
●
Rare (prevalence 1-9 :1 000 000)
●
About 1000 cases
●
No difference about sex
●
No difference about race
1. www.orpha.net
Etiology
●
Unknown
●
Some familiar cases with autosomal dominant
inheritance
●
Intrauterine damage to the sympathetic ganglia
1. www.orpha.net
2. Klippel-Trenaunay syndrome: current management. P. Gloviczi, D J Driscoll; Phlebology 2007; 22:
291-2983.
4. Spinal arteriovenous malformations associated with Klippel-Trenaunay-Weber syndrome: a literature
search and report of two cases. M Rohany, A Shabani, O Arafat et al; AJNR 2007; 28: 584-589
5. Klippel-Trenaunay syndrome: diagnostic criteria and hypotesis on etiology. C E Oduber, C M van der
Horst, R C Hennekam; Ann Plast Surg 2008; 60(2): 217-223
Etiology
Hypotesis:
●
Heterozygous inactivating RASA1 mutations (locus CMC1,
chromosome 5q)
●
Mosaic gene abnormality
●
Chromosome translocation (5;11)
●
Mutation E113K
●
Mutated angiogenic factor VSG5
●
Altered level of angiopoietin-2, antagonist of VEGF
It belongs to arteriovenous malformations
ISSVA – International Society for the Study of Vascular Anomalies- classification
(Rome, 1996) 3
Vascular
malformations
simple complex
Capillary (C) A-V fistula
Venous (V) A-V malformations
Lymphatics (L) CVLM
Arterious (A) CVM
LVM
CAVM
CLAMV
KTS is the most frequent type of complex
malformation seen at Vascular Malformation
Classification
Clinical features
Classical triad of:
1- capillary malformations (port wine stain)
2- soft tissue and bone hypertrophy, or, occasionally,
hypotrophy (1 or more limbs)
3- atypical, mostly lateral, varicosity
... but wide spectrum of presentation!
(also incomplete forms)
Clinical features
Main symptoms:
●
hemangiomas, lymphangiomas, varicosity
●
different length of the limbs (up to 10 cm)
●
haemorrhage ( rectal bledding, intracerebral or
intraspinal, hematuria )
Clinical features
2. Klippel-Trenaunay syndrome: current management. P.
Gloviczi, D J Driscoll; Phlebology 2007; 22: 291-2983.
4. Spinal arteriovenous malformations associated with
Klippel-Trenaunay-Weber syndrome: a literature search
and report of two cases. M Rohany, A Shabani, O Arafat et
al; AJNR 2007; 28: 584-589
6. Klippel-Trenaunay syndrome: incidence and treatment
of genitourinary sequelae. D A Husmann, S R Rathburn, D J
Driscoll; J Urol 2007; 177(4): 1244-1249
7. Lower gastrointestinal bleeding, hematuria and splenic
hemangiomas in Klkippel-Trenaunay syndrome: a case
report and literature review. O Kocaman, A Alponat, C
Aygun et al; Turk J Gastroenterol 2009; 20(1): 62-66
8. Urogenital involvement in the Klippel-Trenaunay-Weber
syndrome. Treatment options and results. F C Vicentini, F
T Denes, C M Gomes; International Braz J Urol 2006; 32(6);
697-704
9. The Klippel-Trenaunay syndrom associated with
multiple visceral arteries aneurysms. S Pourhassan, D
Grotemeyer, V Klar et al; Vasa 2007; 36(2): 124-129.
Diagnosis
Differential diagnosis:
●
Parkes-Weber syndrome (high-flow, high-shunt
arteriovenous malformations)
●
vein dysplasia
●
lymphedema
●
bone tumours
Diagnosis
Prenatal diagnosis: US

cutaneous/subcutaneous cystic or multicystic lesions

asymmetric limb hypertrophy

limb edema

cardiomegaly

hydrops
Diagnosis
●
Clinical examination of the limbs
●
X- rays of the long bones
●
Duplex scanning
●
MRI
●
CT
●
Venography
1. www.orpha.net
2. Klippel-Trenaunay syndrome: current management. P. Gloviczi, D J Driscoll; Phlebology 2007; 22: 291-2983.
7. Lower gastrointestinal bleeding, hematuria and splenic hemangiomas in Klkippel-Trenaunay syndrome: a case
report and literature review. O Kocaman, A Alponat, C Aygun et al; Turk J Gastroenterol 2009; 20(1): 62-66
10. Prenatal diagnosis and hemodynamic evaluation of Klippel-Trenaunay-Weber syndrome. D Paladini, A Lamberti,
A Teodoro et al; Ultrasound Obstet Gynecol 1998; 12: 215-217
11. Klippel-Trenaunay syndrome. M Samimi, G Lorette; Presse Med 2010
Clinical features
Venous malformations due to persistence of embryonic
veins
lateral marginal vein or vein of Servelle
sciatic vein
Management
• Compression (is the hallmark of conservative management)
• Surgical treatment
• Subfascial endoscopic perforator surgery (SEPS)
• Selective endovenous thermal ablation
• Sclerotherapy with foam
• Deep vein reconstructions (rare cases)
Treatment of Venous Malformations
With Sclerosant in Microfoam Form
Juan Cabrera, MD; Juan Cabrera, Jr, MPharm; Ma
Antonia Garcıa-Olmedo, DPharm; Pedro Redondo, MD,
PhD
Vascular Surgery Clinic, Granada, Spain
Arch Dermatol. 2003 Nov;139(11):1494-6
Efficacy and safety of microfoam sclerotherapy in a patient
with Klippel-Trenaunay syndrome and a patent foramen
ovale.
Redondo P, Bastarrika G, Sierra A, Martínez-Cuesta A, Cabrera
J.
Unit of Vascular Malformations, Department of Dermatology,
University Clinic of Navarra, 31008 Pamplona, Spain.
predondo@unav.es
Arch Dermatol. 2009 Oct;145(10):1147-51
Venous angiomata: treatment with sclerosant foam.
Pascarella L, Bergan JJ, Yamada C, Mekenas L.
Department of Bioengineering, University of California San
Diego, La Jolla, CA, USA.
Ann Vasc Surg. 2005 Jul;19(4):457-64
Case report
• Inferior limb varix at birth
• 2 years old arthrocentesis right knee
• 4 years old arthrocentesis left knee
• 7 years old impair of function and left inferior limb pain;
– angiography (1982): small angiodysplasia new formation nourrished by a
muscular tract of deep femoral artery at its middle third; second new
formation in the soft tissue of the knee nourrished by genicolar lateral
inferior a. and by genicolar lateral superior a.;
• The patient is underwent a multiple surgical excisions of
angiodysplasias
Case report
• A 20 years old the patient presented with large varicosities,
swelling and pain
• Treated between June 2006 and June 2008 with ultrasound-
guided foam sclerotherapy (USFS)
• Sclerosant agent: Polidocanol 3%
• Foam produced by Tessari’s tecnique
• Number of sessions: 20,
• Dose utilized for each session: 4 - 8cc
Case report
No major complications were encountered
The patient reported improvement in signs and
symptoms
The patient was very satisfied with the cosmetic
results
Conclusion 1
1. KTS is a mixed malformation with a vascular component
2. The management is complex and involves:
• predictionprediction of the disease (genetic evaluation)
• evaluationevaluation with diagnostic studies
• preventionprevention of vascular and orthopaedic compliacations,
• treatmenttreatment of clinical manifestations
3. Sclerosant foam is a satisfactory tool to use in treating venous
angiomata including the Klippel-Trenaunay syndrome
4. Use of foam sclerotherapy in this experience has proven the tecnique
to be effective, pain free and durable in the short term
Conclusion 2

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Recurrence of Klippel-Trenaunay syndrome symptoms after surgery: a single case treated with foam sclerotherapy

  • 1. Dr. Edoardo Cervi Dr. Maurizio Ronconi Clinica Chirurgica - Spedali Civili di Brescia Recurrence of Klippel-Trenaunay syndrome symptoms after surgery: a single case treated with foam sclerotherapy
  • 2. HISTORY In 1900 the French physicians Maurice Klippel and Paul Trenaunay described 2 patients with a port-wine stain and varicosoties of an extemity associated with soft issue and bone hypertrophy and coined the term “naevus vasculosus osteohypertrophicus” In 1907 the eminent London physician F. Parkers Weber described a patient with 3 aforerementioned symptoms as well as an arteriovenous malformation of the affected extremity. He termed the process hemangiectatic hypertrophy Thus 1918 is became know Klippel-Trenaunay-Weber syndrome Today, conflicting opinion exist in the literature as whether to separately designate the original triad as Klippel Trenaunay and the triad with arteriovenous malformation as Parkes Weber syndrome
  • 3. Definition congenital mixed vascular malformation • with anomalous vascular elements: veins capillaries lymphatics • with abnormal bone growth • also called “angio-osteo-hypertrophic syndrome” (AOH) 1. www.orpha.net 2. Klippel-Trenaunay syndrome: current management. P. Gloviczi, D J Driscoll; Phlebology 2007; 22: 291-2983.
  • 4. Epidemiology ● Rare (prevalence 1-9 :1 000 000) ● About 1000 cases ● No difference about sex ● No difference about race 1. www.orpha.net
  • 5. Etiology ● Unknown ● Some familiar cases with autosomal dominant inheritance ● Intrauterine damage to the sympathetic ganglia 1. www.orpha.net 2. Klippel-Trenaunay syndrome: current management. P. Gloviczi, D J Driscoll; Phlebology 2007; 22: 291-2983. 4. Spinal arteriovenous malformations associated with Klippel-Trenaunay-Weber syndrome: a literature search and report of two cases. M Rohany, A Shabani, O Arafat et al; AJNR 2007; 28: 584-589 5. Klippel-Trenaunay syndrome: diagnostic criteria and hypotesis on etiology. C E Oduber, C M van der Horst, R C Hennekam; Ann Plast Surg 2008; 60(2): 217-223
  • 6. Etiology Hypotesis: ● Heterozygous inactivating RASA1 mutations (locus CMC1, chromosome 5q) ● Mosaic gene abnormality ● Chromosome translocation (5;11) ● Mutation E113K ● Mutated angiogenic factor VSG5 ● Altered level of angiopoietin-2, antagonist of VEGF
  • 7. It belongs to arteriovenous malformations ISSVA – International Society for the Study of Vascular Anomalies- classification (Rome, 1996) 3 Vascular malformations simple complex Capillary (C) A-V fistula Venous (V) A-V malformations Lymphatics (L) CVLM Arterious (A) CVM LVM CAVM CLAMV KTS is the most frequent type of complex malformation seen at Vascular Malformation Classification
  • 8. Clinical features Classical triad of: 1- capillary malformations (port wine stain) 2- soft tissue and bone hypertrophy, or, occasionally, hypotrophy (1 or more limbs) 3- atypical, mostly lateral, varicosity ... but wide spectrum of presentation! (also incomplete forms)
  • 9. Clinical features Main symptoms: ● hemangiomas, lymphangiomas, varicosity ● different length of the limbs (up to 10 cm) ● haemorrhage ( rectal bledding, intracerebral or intraspinal, hematuria )
  • 10. Clinical features 2. Klippel-Trenaunay syndrome: current management. P. Gloviczi, D J Driscoll; Phlebology 2007; 22: 291-2983. 4. Spinal arteriovenous malformations associated with Klippel-Trenaunay-Weber syndrome: a literature search and report of two cases. M Rohany, A Shabani, O Arafat et al; AJNR 2007; 28: 584-589 6. Klippel-Trenaunay syndrome: incidence and treatment of genitourinary sequelae. D A Husmann, S R Rathburn, D J Driscoll; J Urol 2007; 177(4): 1244-1249 7. Lower gastrointestinal bleeding, hematuria and splenic hemangiomas in Klkippel-Trenaunay syndrome: a case report and literature review. O Kocaman, A Alponat, C Aygun et al; Turk J Gastroenterol 2009; 20(1): 62-66 8. Urogenital involvement in the Klippel-Trenaunay-Weber syndrome. Treatment options and results. F C Vicentini, F T Denes, C M Gomes; International Braz J Urol 2006; 32(6); 697-704 9. The Klippel-Trenaunay syndrom associated with multiple visceral arteries aneurysms. S Pourhassan, D Grotemeyer, V Klar et al; Vasa 2007; 36(2): 124-129.
  • 11. Diagnosis Differential diagnosis: ● Parkes-Weber syndrome (high-flow, high-shunt arteriovenous malformations) ● vein dysplasia ● lymphedema ● bone tumours
  • 12. Diagnosis Prenatal diagnosis: US  cutaneous/subcutaneous cystic or multicystic lesions  asymmetric limb hypertrophy  limb edema  cardiomegaly  hydrops
  • 13. Diagnosis ● Clinical examination of the limbs ● X- rays of the long bones ● Duplex scanning ● MRI ● CT ● Venography 1. www.orpha.net 2. Klippel-Trenaunay syndrome: current management. P. Gloviczi, D J Driscoll; Phlebology 2007; 22: 291-2983. 7. Lower gastrointestinal bleeding, hematuria and splenic hemangiomas in Klkippel-Trenaunay syndrome: a case report and literature review. O Kocaman, A Alponat, C Aygun et al; Turk J Gastroenterol 2009; 20(1): 62-66 10. Prenatal diagnosis and hemodynamic evaluation of Klippel-Trenaunay-Weber syndrome. D Paladini, A Lamberti, A Teodoro et al; Ultrasound Obstet Gynecol 1998; 12: 215-217 11. Klippel-Trenaunay syndrome. M Samimi, G Lorette; Presse Med 2010
  • 14. Clinical features Venous malformations due to persistence of embryonic veins lateral marginal vein or vein of Servelle sciatic vein
  • 15. Management • Compression (is the hallmark of conservative management) • Surgical treatment • Subfascial endoscopic perforator surgery (SEPS) • Selective endovenous thermal ablation • Sclerotherapy with foam • Deep vein reconstructions (rare cases)
  • 16. Treatment of Venous Malformations With Sclerosant in Microfoam Form Juan Cabrera, MD; Juan Cabrera, Jr, MPharm; Ma Antonia Garcıa-Olmedo, DPharm; Pedro Redondo, MD, PhD Vascular Surgery Clinic, Granada, Spain Arch Dermatol. 2003 Nov;139(11):1494-6 Efficacy and safety of microfoam sclerotherapy in a patient with Klippel-Trenaunay syndrome and a patent foramen ovale. Redondo P, Bastarrika G, Sierra A, Martínez-Cuesta A, Cabrera J. Unit of Vascular Malformations, Department of Dermatology, University Clinic of Navarra, 31008 Pamplona, Spain. predondo@unav.es Arch Dermatol. 2009 Oct;145(10):1147-51 Venous angiomata: treatment with sclerosant foam. Pascarella L, Bergan JJ, Yamada C, Mekenas L. Department of Bioengineering, University of California San Diego, La Jolla, CA, USA. Ann Vasc Surg. 2005 Jul;19(4):457-64
  • 17. Case report • Inferior limb varix at birth • 2 years old arthrocentesis right knee • 4 years old arthrocentesis left knee • 7 years old impair of function and left inferior limb pain; – angiography (1982): small angiodysplasia new formation nourrished by a muscular tract of deep femoral artery at its middle third; second new formation in the soft tissue of the knee nourrished by genicolar lateral inferior a. and by genicolar lateral superior a.; • The patient is underwent a multiple surgical excisions of angiodysplasias
  • 18. Case report • A 20 years old the patient presented with large varicosities, swelling and pain • Treated between June 2006 and June 2008 with ultrasound- guided foam sclerotherapy (USFS) • Sclerosant agent: Polidocanol 3% • Foam produced by Tessari’s tecnique • Number of sessions: 20, • Dose utilized for each session: 4 - 8cc
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  • 26. Case report No major complications were encountered The patient reported improvement in signs and symptoms The patient was very satisfied with the cosmetic results
  • 27. Conclusion 1 1. KTS is a mixed malformation with a vascular component 2. The management is complex and involves: • predictionprediction of the disease (genetic evaluation) • evaluationevaluation with diagnostic studies • preventionprevention of vascular and orthopaedic compliacations, • treatmenttreatment of clinical manifestations
  • 28. 3. Sclerosant foam is a satisfactory tool to use in treating venous angiomata including the Klippel-Trenaunay syndrome 4. Use of foam sclerotherapy in this experience has proven the tecnique to be effective, pain free and durable in the short term Conclusion 2

Editor's Notes

  1. Ang