Wat is het Klippel-Trénaunay Syndroom - Een Inzicht in Huidziekten

Aussicht & Prognose

Beim Klippel-Trenaunay-Weber-Syndrom sollte in erster Linie eine frühzeitige Diagnose der Krankheit erfolgen, damit es nicht zu einer weiteren Verschlechterung der Beschwerden kommt. Eine frühe Diagnose wirkt sich dabei in der Regel immer sehr positiv auf den weiteren Verlauf aus, sodass der Betroffene schon bei den ersten Anzeichen der Krankheit einen Arzt aufsuchen sollte.

Da es sich bei diesem Syndrom um eine genetisch bedingte Krankheit handelt, sollte bei einem Kinderwunsch eine genetische Untersuchung und Beratung erfolgen, um das erneute Auftreten des Syndroms zu verhindern. Die meisten Betroffenen sind dabei auf die Maßnahmen einer Krankengymnastik und einer Physiotherapie angewiesen. Dabei können einige der Übungen aus diesen Therapien auch im eigenen Zuhause wiederholt werden, wodurch die Heilung beschleunigt wird.

Ebenso ist die Unterstützung und die Hilfe von anderen Menschen oder den Eltern im Alltag des Betroffenen sehr wichtig. Dadurch können auch mögliche psychische Beschwerden oder Depressionen verhindert werden. Beim Klippel-Trenaunay-Weber-Syndrom sind weiterhin regelmäßige Untersuchungen bei einem Arzt sehr wichtig, damit weitere Schäden an den Gefäßen früh erkannt werden können. In der Regel verringert diese Krankheit nicht die Lebenserwartung der Betroffenen.

Epidemiology

The estimated incidence is between 2 and 5 in 100,000 and is found equally in both sexes.[5]

Klippel Trenaunay syndrome primarily involves the capillary, venous and lymphatic systems to varying degrees with tissue and bone hypertrophy. This condition predominantly affects the lower limbs and unilaterally affects the right and left sides equally. In rare cases, upper extremity, head and neck area, and bilateral involvement may be seen.[6] Capillary manifestations are flat, red, or purple capillary port-wine stains and are seen in 90 to 100% of cases. This is usually the first clinical finding present at birth and enlarges as the child grows.[5]

Venous malformations are seen in 70 to 100% of patients and consist of varicosities in the superficial and deep venous systems, persistent embryonic veins, and aplasia/hypoplasia with valvular incompetence. The embryonic veins, which usually regress prior to birth, are persistent and are functionally incompetent leading to venous stasis and chronic thrombosis. Venous malformations can occur in the GI tract, especially in the colon, and can present with GI bleeds. On exam, dilated tortuous veins can be seen in the affected limb with swelling and discoloration. Patients can also present with recurrent deep vein thrombosis, leading to pulmonary embolism.[5][7][8]

Lymphatic malformations are seen in 15 to 50% of cases and consist of lymphedema and cystic lymphatic collections.[9] Musculoskeletal findings include soft tissue and bone hypertrophy in an extremity leading to the limb-length discrepancy. Rare physical findings include syndactyly, polydactyly, and clinodactyly. Other uncommon symptoms include seizures, developmental delay, and genitourinary abnormalities presenting as hematuria.[9][10]

Introduction

Cutaneous haemangioma seen on left thigh of a patient with Klippel-Trénaunay syndrome (limit of edges outlined by blue arrows).

Lateral marginal vein (blue arrows) and gluteal vein (yellow arrow) seen in patient with Klippel-Trénaunay syndrome. The lateral marginal vein is considered pathognomonic of the disease.

MRI showing lateral marginal vein (yellow arrow), perforator vein (blue arrow) and an isolated segment of a vestigial or hypoplastic femoral vein (red arrow).

Lymphatic malformations, which are more common than expected, occur in 11% of KTS patients. They consist of dilated vessels filled with clear protinaceous fluid, but they do not connect to normal lymphatic vessels lying in cutaneous and subcutaneous tissue. 8 The lymphatic system has a very close developmental, structural and functional relationship with the venous system, 9–11 and plays an important role in the symptomatology and progress of these patients. It is best imaged by MRI- lymphangiography. 9

Limb hypertrophy occurs in 67% of KTS patients, with 88% involving the lower limb 2 and 71.5% involving a single limb 6 [ Figure 4 ]. Though bilateral and truncal involvement are rare, extensive venous networks extend to spread across viscera of the pelvis and spinal cord. 12 Visceral vascular malformations can be seen in the liver, bladder, rectum, retropeitoneum and pericardium. 4 Patients can therefore present with a variety of symptoms including internal haemorrhage and rectal bleeding. 13