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

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

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.

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.

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.

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

PEDIGREE ANALYSIS 14 12

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.

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.

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

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 89 105-175 mg/dl APO B 139 191 60-140mg/dl HDL 33 35-55mg/dl LIPOPROTEIN a

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

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.

Microscopic picture (400X)

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

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.

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

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