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familial chylomicronemia syndrome

ORPHA: 444490

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with familial chylomicronemia syndrome, sourced from HPO and Orphanet clinical annotations.

Failure to thriveNausea and vomitingDecreased body weightDepressionHypertriglyceridemiaHyperlipidemiaIncreased circulating chylomicron concentrationLipemia retinalisHepatosplenomegalyAcute pancreatitisEpisodic abdominal painRecurrent pancreatitisEruptive xanthomasHepatic steatosisDementiaDiabetes mellitusJaundicePulmonary embolismMemory impairmentPerianal abscessAbnormal emotional state

Classification & Codes

Orphanet Code

ORPHA:444490
familial chylomicronemia syndrome
OrphanetORPHA:444490
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO