Low phospholipid-associated cholelithiasis

What it is

From: Orphanet

A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.

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 colic · Very frequent (99-80%)

A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.

Intrahepatic cholestasis · Very frequent (99-80%)

Impairment of bile flow due to obstruction in the small bile ducts within the liver.

Cholelithiasis · Frequent (79-30%)

Hard, pebble-like deposits that form within the gallbladder.

Elevated circulating hepatic transaminase concentration · Frequent (79-30%)

Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

Elevated gamma-glutamyltransferase level · Frequent (79-30%)

Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.

Overweight · Frequent (79-30%)

Increased body weight with a body mass index of 25-29.9 kg per square meter.

Biliary tract obstruction · Occasional (29-5%)

Obstruction affecting the biliary tree.

Cholangitis · Occasional (29-5%)

Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.

Cholecystitis · Occasional (29-5%)

The presence of inflammatory changes in the gallbladder.

Hepatocellular carcinoma · Occasional (29-5%)

A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.

Hypercholesterolemia · Occasional (29-5%)

An increased concentration of cholesterol in the blood.

Hypertension · Occasional (29-5%)

The presence of chronic increased pressure in the systemic arterial system.

Neoplasm of the liver · Occasional (29-5%)

A tumor (abnormal growth of tissue) of the liver.

Obesity · Occasional (29-5%)

Accumulation of substantial excess body fat.

Other findings in the same source

From: Orphanet

Additional reported features include Pancreatitis (Occasional (29-5%)); Biliary cirrhosis (Very rare (<4-1%)); Diabetes mellitus (Very rare (<4-1%)); Liver abscess (Very rare (<4-1%)); Sclerosing cholangitis (Very rare (<4-1%)). 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

Autosomal dominant; Autosomal recessive

Which doctor should you see?

The suggested department for discussing Low phospholipid-associated cholelithiasis is Hepatology, with a hepatologist / gastroenterologist 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.

• What is known about the cause and extent of liver involvement?
• Which medicines, supplements or exposures should be reviewed?
• What follow-up is appropriate for the specific diagnosis and stage?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Low phospholipid-associated cholelithiasis. 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.