FAMILIAL HYPERCHOLESTEROL...

A 14-year-old female patient was brought to the clinic by her paternal aunt due to a six-year history of on-and-off fever, joint pains affecting small and large joints, and rash on the trunk. The fever spiked daily but was not associated with chills or rigors. The patient had severe joint pain but did not exhibit early morning stiffness or any features of connective tissue disease. General examination revealed tenderness in multiple joints, without any swelling, and multiple nodular swelling in the hand, elbow, and foot. The patient also had xanthelasma on both eyelids. Laboratory investigations showed abnormal lipid profile, positive CRP, and lipid-laden macrophages in the biopsy of the nodule from the foot. X-rays of both hands and feet showed radiolucent opacities but no erosions. The patient's family history was negative for connective tissue disease, but her father passed away two years ago with the cause unknown. Based on the Dutch Lipid Clinic Network Diagnostic Criteria, the patient was diagnosed with definite familial hypercholesterolemia due to elevated cholesterol, the presence of tendon xanthoma, and LDL cholesterol >330mg/dL.

The patient and her aunt were advised to make lifestyle modifications and were prescribed statins, resulting in an improvement in symptoms. While genetic testing is the gold standard for the diagnosis of familial hypercholesterolemia, it was not done due to non-availability.