Phospholipidosis
Phospholipidosis
Phospholipidosis (pronunciation: fos-fo-li-pi-do-sis) is a condition characterized by the excessive accumulation of phospholipids in tissues and cells.
Etymology
The term "Phospholipidosis" is derived from the words "phospho" referring to phosphate, "lipid" indicating fat or lipid, and "-osis" a suffix used in medical terminology to denote a disorder or abnormal condition.
Definition
Phospholipidosis is a lysosomal storage disease that occurs when the normal metabolism of phospholipids is disrupted, leading to their abnormal accumulation in various tissues and cells. This can result in cellular dysfunction and, in severe cases, cell death.
Causes
Phospholipidosis can be caused by a variety of factors, including genetic mutations and exposure to certain drugs or toxins. Some drugs known to induce phospholipidosis include amiodarone, chloroquine, and imipramine.
Symptoms
The symptoms of phospholipidosis can vary widely depending on the specific tissues and cells affected. Common symptoms can include organomegaly (enlargement of organs), neurological dysfunction, and in severe cases, failure of the affected organ.
Diagnosis
Diagnosis of phospholipidosis typically involves a combination of clinical examination, histopathology, and biochemical analysis. In some cases, genetic testing may also be used to identify mutations associated with the condition.
Treatment
Treatment for phospholipidosis is largely supportive and aims to manage symptoms and improve quality of life. In some cases, discontinuation of the causative drug can lead to improvement or resolution of the condition.
Related Terms
- Lysosomal storage disease
- Phospholipid
- Phosphate
- Lipid
- Amiodarone
- Chloroquine
- Imipramine
- Histopathology
- Neurological
External links
- Medical encyclopedia article on Phospholipidosis
- Wikipedia's article - Phospholipidosis
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