Hepatic veno-occlusive disease-immunodeficiency syndrome

What it is

From: Orphanet

A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.

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 circulating interleukin concentration · Very frequent (99-80%)

The concentration of an interleukin (a class of cytokines) is outside the limits of normal.

Abnormal lymphocyte count · Very frequent (99-80%)

Any abnormality in the total number of lymphocytes in the blood.

Abnormal serum interferon-gamma level · Very frequent (99-80%)

Abnormal levels of interferon gamma measured in the blood circulation.

Panhypogammaglobulinemia · Very frequent (99-80%)

A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.

Absence of lymph node germinal center · Frequent (79-30%)

Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.

Cough · Frequent (79-30%)

A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.

Decreased proportion of memory B cells · Frequent (79-30%)

A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).

Decreased total T cell count · Frequent (79-30%)

Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells.

Hepatomegaly · Frequent (79-30%)

Abnormally increased size of the liver.

Hepatosplenomegaly · Frequent (79-30%)

Simultaneous enlargement of the liver and spleen.

Recurrent enteroviral infections · Frequent (79-30%)

Increased susceptibility to enteroviral infections as manifested by recurrent episodes of enteroviral infection.

Recurrent gastroenteritis · Frequent (79-30%)

Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.

Recurrent respiratory infections · Frequent (79-30%)

An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.

Recurrent viral infections · Frequent (79-30%)

Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection.

Other findings in the same source

From: Orphanet

Additional reported features include Failure to thrive in infancy (Frequent (79-30%)); Anemia (Occasional (29-5%)); Ascites (Occasional (29-5%)); Bilateral tonic-clonic seizure (Occasional (29-5%)); Chronic mucocutaneous candidiasis (Occasional (29-5%)); Diarrhea (Occasional (29-5%)); Elevated circulating hepatic transaminase concentration (Occasional (29-5%)); Hemiparesis (Occasional (29-5%)); Inappropriate antidiuretic hormone secretion (Occasional (29-5%)); Jaundice (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy

Inheritance in the source

From: Orphanet

Autosomal recessive

Frequency and the population described

From: Orphanet

Reported case(s): 28.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Hepatic veno-occlusive disease-immunodeficiency syndrome is Allergy and Immunology, with a allergist / clinical immunologist 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: Clinical Genetics.

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.

• Does the history suggest an allergy, an immune problem or another explanation?
• How would any proposed allergy or immune test change care?
• Is an individual emergency plan needed, and who should understand it?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Hepatic veno-occlusive disease-immunodeficiency 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.