1. AN INTERESTING CASE OF MULTIPLE SWELLINGS OVER THE BODY
Department of Medicine, Maulana Azad Medical College and Lok Nayak Hospital

2. CASE HISTORY
A 14 year old female patient had presented in the OPD with complaints of multiple swellings over the body.

4. HISTORY OF PRESENTING ILLNESS
The patient was apparently well 7 years back when she developed multiple swellings over the body.
Insidious onset.
Gradually progressive.
No h/o fever, pain, discharge, movement limitation, skin alteration.

5. No h/o trauma, allergy, joint disfigurement.
No h/o fever, wt. loss.
No h/o pain, tingling, sensory alteration.
No h/o limb weakness, limb swelling.
No h/o bowel/bladder involvement.
No h/o abdominal pain.
No h/o breathlessness, chest pain.
No h/o jaundice, multiple blood transfusions.
No h/o dysphagia, visual abnormality.
No h/o skin lesions.

6. Past history : non contributory.
Personal history : non contributory.
Family history :
No h/o HTN, metabolic disorders.
No h/o of recurrent episodes of abdominal pain.
H/o death of grandfather after chest pain in his 7th decade.

7. Her brother had similar complaints of multiple swellings over the body for the last 5 years.

8. PEDIGREE ANALYSIS 14 12

9. GENERAL PHYSICAL EXAMINATION
Thin built, Afebrile
Heart rate – 72/ min
BP- 110/70 mm Hg
Pallor, icterus, Cyanosis, clubbing, lymphadenopathy, edema - absent.
JVP not raised.
Rash - absent.

10. LOCAL EXAMINATION Multiple non tender swellings of variable size.
Mostly involving extensor surface of joints.
Firm consistency, movable and compressible.
No e/o discharge, sinus, hair, cavity, ulceration.

16. SYSTEMIC EXAMINATION
CHEST – WNL
CVS – WNL
ABDOMEN – WNL
CNS – WNL

17. 14 / F
12 / M
REFERENCE
CHOLESTEROL
337
486
<200 mg/dl
TRIGLYCERIDES
132
108
<150 mg/dl
HDL CHOLESTEROL 49 26
40-60 mg/dl
VLDL 29
21.6
<30 mg/dl
LDL
253.6
438.4
<100mg/dl
LDL/ HDL RATIO
5.18
16.86
0-3
CHOLESTEROL/HDL RATIO
6.88
18.69
4.0
APO A-1
176 89
mg/dl
APO B
139
191
60-140mg/dl
HDL 33
35-55mg/dl
LIPOPROTEIN a

18. Other investigations Hemogram with ESR: WNL
ECG, 2D Echo, Bilateral carotid artery Doppler :WNL
KFT, LFT, TSH : WNL
USG abdomen : NO e/o oraganomegaly, lymphadenopathy, grossly WNL.
CXR and skeletal survey : NAD

19. Special Investigations
FNAC:
Fatty background with scattered round cells having multivacuolated cytoplasm. No granuloma/ atypical cells seen. S/O xanthomatous lesions.
EXCISIONAL BIOPSY:
Fibroadipose tissue with prominent infiltrate of foamy histiocytes indicative of xanthoma.

20. Microscopic picture (400X)

21. Lipid profile of family members
MOTHER
45/F
FATHER
55/F
DAUGHTER 14/F
SON
12/M
CHOLESTROL
207
375
337
486
TRIGLYCERIDE
130
152
132
108
HDL 53 47 49 26
LDL
190
310
253
438

22. The Simon-Broome Criteria
Definite FH is defined as:
Total cholesterol higher than 6.7 mmol/L (~260 mg/dl) or LDL-C greater than 4.0 mmol/L (~155mg/dl) in a child whose aged under 16 years
Total cholesterol greater than 7.5 mmol/L or LDL-C higher than 4.9 mmol/L in an adult (levels either pre-treatment or highest on treatment).
plus
tendon xanthomas in the patient, or in a first-degree relative (parent, sibling or child), or in a second-degree relative (grandparent, uncle or aunt) or
DNA-based confirmation of an LDLR mutation, familial defective ApoB-100, or a mutation in the PCSK9 gene.

24. FINAL DIAGNOSIS
HYPERLIPIDEMIA (HYPERCHOLESTEROLEMIA) WITH MULTIPLE TENDON XANTHOMAS
Etiology:- familial
AUTOSOMAL DOMINANT FREDRICKSON CLASS IIa HYPERLIPOPROTEINEMIA

25. TREATMENT
Both patients and their father were started on Atorvastatin 40 mg OD HS.
They are on regular follow up.