Catastrophic antiphospholipid syndrome

What it is

From: Orphanet

A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition is often precipitated by infection, trauma, or surgery.

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 thrombosis · Very frequent (99-80%)

Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).

Antiphospholipid antibody positivity · Obligate (100%)

The presence of circulating autoantibodies to phospholipids.

Abnormality of serum cytokine level · Frequent (79-30%)

Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.

Anti-beta 2 glycoprotein I antibody positivity · Frequent (79-30%)

Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).

Anticardiolipin IgG antibody positivity · Frequent (79-30%)

The presence of circulating IgG autoantibodies to cardiolipin.

Arterial thrombosis · Frequent (79-30%)

The formation of a blood clot inside an artery.

Arthralgia · Frequent (79-30%)

Joint pain.

Coombs-positive hemolytic anemia · Frequent (79-30%)

A type of hemolytic anemia in which the Coombs test is positive.

Deep venous thrombosis · Frequent (79-30%)

Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.

Spontaneous abortion · Frequent (79-30%)

A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy.

Venous thrombosis · Frequent (79-30%)

Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.

Microangiopathic hemolytic anemia · Frequent (79-30%)

Peripheral thrombosis · Frequent (79-30%)

Abnormal heart valve morphology · Occasional (29-5%)

Any structural abnormality of a cardiac valve.

Other findings in the same source

From: Orphanet

Additional reported features include Abnormal heart valve physiology (Occasional (29-5%)); Abnormality of the nervous system (Occasional (29-5%)); Amaurosis fugax (Occasional (29-5%)); Anti-annexin-V antibody positivity (Occasional (29-5%)); Anti-phosphatidyl choline antibody positivity (Occasional (29-5%)); Anti-phosphatidyl ethanolamine antibody positivity (Occasional (29-5%)); Anti-phosphatidyl glycerol antibody positivity (Occasional (29-5%)); Anti-phosphatidyl inositol antibody positivity (Occasional (29-5%)); Anti-phosphatidyl serine antibody positivity (Occasional (29-5%)); Anticardiolipin IgM antibody positivity (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adult

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 Catastrophic antiphospholipid syndrome is Rheumatology, with a rheumatologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

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.

• Are the findings inflammatory, structural or due to another mechanism?
• Is there evidence that other organs need assessment?
• How will function and any treatment-related risks be monitored?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Catastrophic antiphospholipid 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.