One Rare Disease – 4 Sisters

[Defined from Mayo Clinic]

A paraganglioma is an abnormal growth of cells that forms from a specific type of nerve cell (chromaffin) that’s found throughout the body.

Paragangliomas are usually noncancerous (benign). But some paragangliomas can become cancerous (malignant) and spread (metastasize) to other parts of the body.

Paraganglioma cells commonly secrete hormones known as catecholamines or adrenaline, which is the fight-or-flight hormone. This can cause episodes of high blood pressure, a rapid heartbeat, sweating, headache and tremors.

[Sourced from Cancer Genetics]

SDHD (succinate dehydrogenase complex subunit D) is a gene that encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate.

The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane.

Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma.

Metastatic Paraganglioma Cancer is when paragangliomas grow outside of the original origin. Jenn had “benign” paraganglioma starting in 2005 in her ear and around her neck. In 2021, new scans below the head and neck area showed many occurrences of paraganglioma in a variety of places including her liver, lymph nodes, bones. This is an example of metastatic paraganglioma because of the spread of the disease.