Malformation vascular (overview) Q28.88

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 09.06.2021

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Synonym(s)

Angiodysplasia; congenital malformations; malformations; Malformation vascular; vascular malformation; vascular malformations; Vascular malformations; vascular malformations (e)

Definition
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Frequent, syndromal or non-syndromal, benign, mono- or polytopic vascular malformations as a result of abnormal embryonic tissue development. The clinical pictures summarized under the term "vascular malformation" can include vascular malformations in different tissues (skin, muscle, bone) or in different organs (e.g. skin and CNS).

In contrast to the infant's hemangioma, vascular malformations are always present in an established form at the time of birth, even though they may initially manifest themselves only discreetly over a period of years or remain completely unnoticed clinically.

Vascular malformations initially show a growth in size proportional to the growth of the body, do not regress and may show an autonomous proliferation in the course of life (see also Naevus flammeus - Port-wine stain).

Classification
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The sometimes confusing morphological variety of vascular tumors and malformations (which vascular area is affected: capillary, vein, artery, mixed?), their localization in different parts of the skin-subcutaneous-muscle compartment, their often difficult etiological assignment (malformation or true neoplasia?) makes a universally satisfactory classification difficult, but inevitable. In the difficult systematic classification of vascular malformations one can proceed according to the following aspects:

Aetiological classification:

  • malformation
  • true neoplasia

Histopathological classification:

  • capillary (capillary malformation, KM - port-wine stain - nevus flammeus)
  • venous (venous malformation or mixed, VM - or KM/VM - e.g. angiokeratoma circumscriptum)
  • arterial (AM or mixed KM/VM/AM/AVM)
  • lymphatic (LM or mixed KM/VM/AM/LM)

Hemodynamic/ functional assignment:

  • low-flow
  • high-flow

Classification of vascular malformations according to pathological-anatomical aspects:

Lymphatic (partly syn. with lymphangioma - see below Malformation lymphatic)

Other:

Classification according to haemodynamic criteria (low-flow and high-flow lesions):

  • High-flow: AV fistulas, arterial and arteriovenous malformations.
  • Low-flow: Capillary (e.g., nevus flammeus) and lymphatic malformations(lymphangiomas) show low or no flow velocities.

Occurrence/Epidemiology
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There are no exact figures for the number of affected people worldwide. In Germany itself, less than 0.5% of people suffer from this rare disease. According to estimates, this affects about 450,000 people.

Etiopathogenesis
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In sporadic nonfamilial patients with venous malformations, somatic mutations in the TEK gene associated with the presence of activating PIK3ca (phosphatidylinositol 3-kinase) mutations are detected in about half of the cases (Castillo P et al. 2016).

Diagnostics
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People with vascular anomalies often go through many stages before their condition is correctly diagnosed and treated due to its rarity and diversity.

The care of patients with vascular anomalies should take place in specialized centers. It should be ensured that the necessary experts from different specialist groups work closely and interactively with each other across their specialist boundaries and that clinical and scientific knowledge is exchanged at regular intervals.

Therapy
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Therapy depends on the individual type and severity of the vascular anomaly, which must be successfully eliminated either minimally invasively or surgically. Symptomatic treatment of vascular malformations includes, among other things, compression therapy as well as orthopedic and physical measures in addition to individual pain therapy.

The majority of vascular anomalies can be treated minimally invasively with sclerotherapy or catheter procedures. Surgical interventions alone are less common, but are possible and useful, especially in combination with minimally invasive techniques.

Note(s)
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The clinical subclassification of vascular malformations can be based on the patient's medical history, clinical course and clinical examination.

Venous and lymphatic malformations are soft and compressible; "high-flow" lesions appear solid. While lymphangiomas show a sudden growth in size during infection, venous malformations increase in volume when pressure is increased (pressing, bending forward). "High-flow lesions can be accompanied by an increase in temperature above the affected area and a palpable pulsation.

In the case of capillary/post-capillary malformations, the group of so-called angiokeratomas is listed. The diseases listed under 1-5 are based on metabolic diseases which appear dermatologically under the clinical picture of "Angiokeratoma corporis diffusum".

Literature
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  1. Baumann NM et al (1997) Treatment of massive or life-threatening hemangiomas with recombinant alfa-2a interferon. Otolaryngol Head Neck Surg 117: 99-110
  2. Castel P et al(2016) Somatic PIK3CA mutations as a driver of sporadic venous malformations. Sci Transl Med 8(332):332ra42.
  3. Mulliken JB, Glowacki J (1982) Hemangiomas and vascular malformations of infants and children: A classification based on endothelial characteristics. Plast reconstruction surgery 69: 412-422
  4. Mulliken JB (1988) Diagnosis and natural history of hemangiomas. In: Vascular birthmarks: Hemangiomas and vascular malformations. Saunders, Philadelphia
  5. Seyberth HW et al (2002) Advanced extracranial hemangiomas and vascular malformations. Dtsch Ärztebl 99: A-188 / B-153 / C-149

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 09.06.2021