Familial hypercholesterolemia mimicking juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA) seen in children is a diagnosis of exclusion, as many systemic and metabolic diseases have similar presentation. Here, we present a case of a 14-year-old female girl who presented with polyarthralgia, fever, and nodules over body. She was diagnosed as JIA initiall...

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Main Authors: Pooja Dhaon, Utkarsh Bansal, Dileep Jain
Format: Article
Language:English
Published: SAGE Publishing 2022-01-01
Series:Indian Journal of Rheumatology
Subjects:
Online Access:http://www.indianjrheumatol.com/article.asp?issn=0973-3698;year=2022;volume=17;issue=1;spage=78;epage=81;aulast=Dhaon
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author Pooja Dhaon
Utkarsh Bansal
Dileep Jain
author_facet Pooja Dhaon
Utkarsh Bansal
Dileep Jain
author_sort Pooja Dhaon
collection DOAJ
description Juvenile idiopathic arthritis (JIA) seen in children is a diagnosis of exclusion, as many systemic and metabolic diseases have similar presentation. Here, we present a case of a 14-year-old female girl who presented with polyarthralgia, fever, and nodules over body. She was diagnosed as JIA initially without any response to treatment. On further assessment, she had xanthelasma on eyelids, and a very high and low-density lipoprotein-cholesterol, a second-degree relative also with similar findings. The histopathology of the nodule was suggestive of xanthoma. Thus, she was diagnosed as familial hypercholesterolemia (FH) and was given statins. Articular manifestations are not very uncommon in patients of FH, and sometimes, they are the presenting symptoms in these patients. There are number of causes of arthritis with subcutaneous nodules in children apart from JIA which have been enumerated. Thus, FH must also be considered as a differential diagnosis in such patients.
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spelling doaj-art-c2d938b15e3243e3ae4cdfecbdabf5c82025-01-02T04:57:27ZengSAGE PublishingIndian Journal of Rheumatology0973-36980973-37012022-01-01171788110.4103/injr.injr_22_21Familial hypercholesterolemia mimicking juvenile idiopathic arthritisPooja DhaonUtkarsh BansalDileep JainJuvenile idiopathic arthritis (JIA) seen in children is a diagnosis of exclusion, as many systemic and metabolic diseases have similar presentation. Here, we present a case of a 14-year-old female girl who presented with polyarthralgia, fever, and nodules over body. She was diagnosed as JIA initially without any response to treatment. On further assessment, she had xanthelasma on eyelids, and a very high and low-density lipoprotein-cholesterol, a second-degree relative also with similar findings. The histopathology of the nodule was suggestive of xanthoma. Thus, she was diagnosed as familial hypercholesterolemia (FH) and was given statins. Articular manifestations are not very uncommon in patients of FH, and sometimes, they are the presenting symptoms in these patients. There are number of causes of arthritis with subcutaneous nodules in children apart from JIA which have been enumerated. Thus, FH must also be considered as a differential diagnosis in such patients.http://www.indianjrheumatol.com/article.asp?issn=0973-3698;year=2022;volume=17;issue=1;spage=78;epage=81;aulast=Dhaonfamilial hypercholesterolemiajuvenile idiopathic arthritisxanthelasmaxanthoma
spellingShingle Pooja Dhaon
Utkarsh Bansal
Dileep Jain
Familial hypercholesterolemia mimicking juvenile idiopathic arthritis
Indian Journal of Rheumatology
familial hypercholesterolemia
juvenile idiopathic arthritis
xanthelasma
xanthoma
title Familial hypercholesterolemia mimicking juvenile idiopathic arthritis
title_full Familial hypercholesterolemia mimicking juvenile idiopathic arthritis
title_fullStr Familial hypercholesterolemia mimicking juvenile idiopathic arthritis
title_full_unstemmed Familial hypercholesterolemia mimicking juvenile idiopathic arthritis
title_short Familial hypercholesterolemia mimicking juvenile idiopathic arthritis
title_sort familial hypercholesterolemia mimicking juvenile idiopathic arthritis
topic familial hypercholesterolemia
juvenile idiopathic arthritis
xanthelasma
xanthoma
url http://www.indianjrheumatol.com/article.asp?issn=0973-3698;year=2022;volume=17;issue=1;spage=78;epage=81;aulast=Dhaon
work_keys_str_mv AT poojadhaon familialhypercholesterolemiamimickingjuvenileidiopathicarthritis
AT utkarshbansal familialhypercholesterolemiamimickingjuvenileidiopathicarthritis
AT dileepjain familialhypercholesterolemiamimickingjuvenileidiopathicarthritis