Xanthoma and xanthelasma — SAQ

Stem

A 38-year-old man is referred by his optician after noticing firm yellow nodules on both Achilles tendons. On examination there are also yellow-orange nodules over the extensor surfaces of his elbows and knuckles, and a corneal arcus. His father died of a myocardial infarction at 45 years of age. His fasting lipid profile shows total cholesterol 9.8 mmol/L, LDL-C 7.4 mmol/L, HDL-C 1.0 mmol/L and triglycerides 1.6 mmol/L. A separate 50-year-old woman with poorly controlled type 2 diabetes and alcohol excess has developed sudden crops of tender yellow papules with an erythematous base on her buttocks and thighs, and is now complaining of severe epigastric pain.

Questions

a) What is the diagnosis in each patient, and which underlying lipid disorder does each signpost? (2 marks)

^[2][4]b) What investigations would you arrange, and why? (3 marks)

c) Outline your stepwise management for both patients, including any urgent measures. (3 marks)

d) What are the key complications, prognostic factors, and the single most important public-health action arising from the first patient's diagnosis? (2 marks)

Model answer

a) Diagnosis (2 marks). Patient 1: tendinous and tuberous xanthomas in familial hypercholesterolaemia (FH) — isolated high LDL-C with tendon xanthomas and a premature-CAD family history is highly suggestive (Fredrickson type IIa pattern). Patient 2: eruptive xanthoma in severe hypertriglyceridaemia, now complicated by probable acute pancreatitis. One mark for each correct pairing of lesion type with lipid disorder.^[2][3]

^[3]b) Investigations (3 marks). For both: a fasting lipid panel, glucose and HbA1c, TSH, U&E/eGFR, LFTs and urinalysis to characterise the lipid disorder and exclude secondary causes. For Patient 1: apply the Dutch Lipid Clinic Network or Simon Broome criteria, arrange genetic testing for LDLR, APOB, PCSK9, and measure lipoprotein(a). For Patient 2: check serum amylase and lipase urgently, a fasting triglyceride level, and a CT abdomen if pancreatitis is confirmed. Credit biopsy only where the diagnosis is genuinely in doubt (foam cells are identical across types).

^[2]c) Management (3 marks). Patient 1 (outpatient): high-intensity statin (atorvastatin 80 mg or rosuvastatin 20 to 40 mg) plus ezetimibe 10 mg, add a PCSK9 inhibitor if LDL-C remains above target; cosmetic removal not needed as the lesions will shrink slowly. Patient 2 (urgent/inpatient): admit, nil by mouth, IV fluids, analgesia; insulin infusion to drive triglyceride clearance; consider therapeutic plasma exchange for refractory severe hypertriglyceridaemic pancreatitis; then fibrate plus omega-3, alcohol cessation, glycaemic control and removal of triggers. One mark each for the FH ladder, the emergency measures, and the long-term triglyceride strategy.

^[1]d) Complications, prognosis and public health (2 marks). Dominant complications are atherosclerotic cardiovascular disease (Patient 1; substantially reduced by early sustained statin) and pancreatitis (Patient 2; eruptive lesions resolve within weeks once triglycerides fall). The single most important public-health action is cascade screening of Patient 1's first-degree relatives, each of whom has a one-in-two chance of carrying the FH mutation and benefits from early treatment.

References4ShowHide

1. [1]Uyar S, Harmandar F, Kök M, et al. Management of hypertriglyceridemia induced acute pancreatitis and therapeutic plasmapheresis: Report of nine cases and review of literature Acta Gastroenterol Belg, 2017.PMID 29364102
2. [2]Tada H, Nohara A, Kawashiri MA, et al. Impact of Achilles tendon on diagnosis and phenotypes of familial hypercholesterolemia Curr Opin Lipidol, 2025.PMID 40277332
3. [3]Shrestha A, Bam PK, Pandit A, et al. Eruptive xanthoma as a warning sign of uncontrolled hypertriglyceridemia presenting with acute pancreatitis and uncontrolled type II diabetes mellitus: A case report Clin Case Rep, 2024.PMID 38799544
4. [4]Tada H, Nohara A, Kawashiri MA, et al. Impact of Achilles tendon on diagnosis and phenotypes of familial hypercholesterolemia Curr Opin Lipidol, 2025.PMID 40277332