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Hello, Doctor! My dad died at the age of 48 of lung cancer, from an early age he had anal itching for which he was treated from his youth and until the end of his days doctors could not diagnose it. I have been struggling with this problem for several years and I cannot cope (hemorrhoids were excluded). I did a colonoscopy and it showed nothing, just gases, which I have just like he had. I'm already wondering if it's not a genetic disease?

Anal pruritusis a relatively common medical problem, in some cases it is impossible to identify itscause . As I understand it, itching occurs only in the area of ​​the anus and you have already consulted many specialists. Certainly, in the differential diagnosis it is worth considering rarer causes, e.g. anemia caused by iron deficiency, celiac disease, cutaneous amyloidosis or fungal infection in this area (occurring mostly in people with diabetes) - this is a task for an experienced internist. There are of course genetically determined diseases in which itching is one of the many symptoms. The medical literature also includes descriptions of families with pruritus in various parts of the body as an isolated symptom. At present, it is not possible to perform a genetic test in this area yet.

Remember that our expert's answer is informative and will not replace a visit to the doctor.

Krystyna Spodar

Krystyna Spodar - specialist in the field of clinical genetics at NZOZ Genomed, ul. Ponczowa 12, 02-971 Warsaw, www.nzoz.genomed.pl, e-mail: [email protected]

The expert answers questions about genetic diseases and congenital malformations, inheritance, and prenatal diagnosis.

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