What is the clinical evidence from this study?

Study design: Case Report. Population: Familial hypercholesterolemia.

What question did this study set out to answer?

To explore the characteristics and implications of familial homozygous hypercholesterolemia in a Kashmir family.

April 13, 2026

Familial hypercholesterolemia

Key Result

In a family with familial hypercholesterolemia, the appearance and severity of cutaneous xanthomas were age-related, suggesting a role for the duration of hypercholesterolemia.

Key Points

To explore the characteristics and implications of familial homozygous hypercholesterolemia in a Kashmir family.
Case report detailing a family affected by familial hypercholesterolemia.
Observation of cholesterol levels and cutaneous xanthomas in relation to age.
Evaluation of coronary artery disease occurrences and outcomes.
Family members exhibited high cholesterol levels and severe xanthomas.
Xanthoma severity was age-related, indicating the impact of prolonged hypercholesterolemia.
Early onset of coronary artery disease was noted, including myocardial infarctions.

Study Design

Type

Case Report

Structured PICO

Population

A family with familial hypercholesterolemia from the Kashmir valley of the Indian subcontinent.

Outcome

Appearance and severity of cutaneous xanthomas

Highlights the relationship between age (duration of hypercholesterolemia) and the severity of cutaneous xanthomas in familial hypercholesterolemia.

Abstract

Familial homozygous hypercholesterolemia is a rare autosomal disorder characterized by high levels of cholesterol, extensive tendon xanthomatosis and premature development of atherosclerotic disease. Early coronary artery disease with myocardial infarctions and sudden deaths are common. We reported a family of familial hypercholesterolemia from the Kashmir valley of the Indian subcontinent. The appearance and the severity of the cutaneous xanthomas was found to be age related suggesting a role for the duration of hypercholesterolemia in the development of xanthomatosis.

Connected Papers

Building similarity graph...

Analyzing shared references across papers

Discussion

Authors

Parvaiz A Koul

Sher-i-Kashmir Institute of Medical Sciences

Rafi A Jan

Sher-i-Kashmir Institute of Medical Sciences

Abdul B. Wahid

Sher-i-Kashmir Institute of Medical Sciences

Journals

Saudi Medical Journal

Actions

Institutions

Sher-i-Kashmir Institute of Medical Sciences

References and Citations

Connected Papers

Building similarity graph...

Analyzing shared references across papers

Familial hypercholesterolemia

Key Result

Key Points

Study Design

Structured PICO

Abstract

Citation Network

Connected Papers

Discussion

Authors

Journals

Actions

Institutions

References and Citations

Citation Network

Connected Papers

Discussion

Cite this study

Also consider

Also consider