Congenital fibrinogen deficiency

What it is

From: Orphanet

A group of rare inherited coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be rarely combined (hypodysfibrinogenemia).

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.

Abdominal pain · Very frequent (99-80%)

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.

Abnormal bleeding · Very frequent (99-80%)

An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.

Abnormal cardiovascular system morphology · Very frequent (99-80%)

Any structural anomaly of the heart and blood vessels.

Abnormal umbilical stump bleeding · Very frequent (99-80%)

Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.

Abnormality of the subungual region · Very frequent (99-80%)

A lesion located beneath a fingernail or toenail.

Anaphylactic shock · Very frequent (99-80%)

An acute hypersensitivity reaction due to exposure to a previously encountered antigen.

Bruising susceptibility · Very frequent (99-80%)

An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Clubbing of fingers · Very frequent (99-80%)

Terminal broadening of the fingers (distal phalanges of the fingers).

Cyanosis · Very frequent (99-80%)

Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.

Decreased testicular size · Very frequent (99-80%)

Reduced volume of the testicle (the male gonad).

Developmental cataract · Very frequent (99-80%)

A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.

Fever · Very frequent (99-80%)

Body temperature elevated above the normal range.

Gingival bleeding · Very frequent (99-80%)

Hemorrhage affecting the gingiva.

Hemorrhagic ovarian cyst · Very frequent (99-80%)

An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.

Other findings in the same source

From: Orphanet

Additional reported features include Internal hemorrhage (Very frequent (99-80%)); Left ventricular hypertrophy (Very frequent (99-80%)); Loss of consciousness (Very frequent (99-80%)); Micropenis (Very frequent (99-80%)); Microphthalmia (Very frequent (99-80%)); Opisthotonus (Very frequent (99-80%)); Prolonged prothrombin time (Very frequent (99-80%)); Right ventricular hypertrophy (Very frequent (99-80%)); Splenic rupture (Very frequent (99-80%)); Subcutaneous hemorrhage (Very frequent (99-80%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

All ages

Inheritance in the source

From: Orphanet

Autosomal dominant; Autosomal recessive

Which doctor should you see?

The suggested department for discussing Congenital fibrinogen deficiency is Haematology, with a haematologist 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.

• Which blood-cell, marrow, bleeding or clotting finding matters most?
• Does the diagnosis need confirmation or a more precise subtype?
• Which symptoms or laboratory changes should trigger earlier review?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Congenital fibrinogen deficiency. 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.