Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

What it is

From: Orphanet

A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormal skin morphology · Very frequent (99-80%)

Any morphological abnormality of the skin.

Gastrointestinal hemorrhage · Very frequent (99-80%)

Hemorrhage affecting the gastrointestinal tract.

Morphological abnormality of the gastrointestinal tract · Very frequent (99-80%)

Abnormal structure of the gastrointestinal tract.

Thrombocytopenia · Very frequent (99-80%)

A reduction in the number of circulating thrombocytes.

Abnormal vascular morphology · Very frequent (99-80%)

Abnormal lung morphology · Frequent (79-30%)

Any structural anomaly of the lung.

Erythematous papule · Frequent (79-30%)

A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.

Erythematous plaque · Frequent (79-30%)

A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.

Generalized abnormality of skin · Frequent (79-30%)

An abnormality of the skin that is not localized to any one particular region.

Intracranial hemorrhage · Frequent (79-30%)

Hemorrhage occurring within the skull.

Abnormal heart morphology · Occasional (29-5%)

Any structural anomaly of the heart.

Abnormal peripheral nervous system morphology · Occasional (29-5%)

A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).

Abnormal renal cortex morphology · Occasional (29-5%)

An abnormality of the cortex of the kidney.

Abnormality of the eye · Occasional (29-5%)

Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

Other findings in the same source

From: Orphanet

Additional reported features include Abnormality of the kidney (Occasional (29-5%)); Abnormality of the liver (Occasional (29-5%)); Cerebral hemorrhage (Occasional (29-5%)); Cough (Occasional (29-5%)); Hematemesis (Occasional (29-5%)); Hematochezia (Occasional (29-5%)); Hemoptysis (Occasional (29-5%)); Hyperbilirubinemia (Occasional (29-5%)); Intestinal perforation (Occasional (29-5%)); Melena (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Point prevalence: Unknown; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome is Oncology, with a oncologist and relevant organ specialist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Relevant organ specialist / Surgical Oncology as indicated.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Has the exact tumour type been confirmed, and is staging relevant?
• What is the goal of each proposed treatment option?
• How will side effects, daily function and supportive care be addressed?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.