**Is it all in the family?**

Many diseases can be traced back to our genetic makeup, but autoimmune diseases are usually a combination of genes and environmental factors.

Meditation (photo credit: INGIMAGE / ASAP)
(photo credit: INGIMAGE / ASAP)
I am 84 years old and in good health. My only relevant illness was thyroid cancer 15 years ago; the only treatment required was surgical removal of two-thirds of the gland.
I had five children; my oldest son, who would now be 60, died at 39 due to systemic lupus erythematosus (SLE) from age 14. Two of my daughters, now in their 50s, have fibromyalgia; one daughter, also in her 50s, has Sjogren’s syndrome; my son, in his 40s, has a form of rheumatoid arthritis. All of these are autoimmune diseases, in which the body attacks itself.
I would like to know whether autoimmune diseases are inherited. Also, what genetic information is pertinent to my grandchildren and great-grandchildren, and do they have to worry about getting autoimmune diseases? R.S., via email
Prof. Ephrat Levy-Lahad, head of the medical genetics department at Jerusalem’s Shaare Zedek Medical Center, replies:
Autoimmune diseases are generally considered complex diseases, meaning they are the result of a combination of both genetic and environmental factors. In this situation, the exact genetic basis is mostly unknown at this time.
There are rare cases in which autoimmune diseases are genetic, in the sense they are caused by mutations in a single gene.
For example, there is a condition called autoimmune polyendocrine syndrome which can manifest in various hormonal insufficiencies and is caused by mutations in a single gene called AIRE. This syndrome is more common in Jews of Persian origin; there are also very rare cases of families that inherit SLE.
Most single-gene autoimmune diseases are inherited in an autosomal recessive manner, meaning both parents are carriers (of the two copies of the gene, they have one with a mutation). Carriers generally do not manifest the disease, but their children are affected if they inherit the mutated copy from both parents. In this type of inheritance, unless there is marriage to relatives, future generations are not likely to be affected. However, among recessive inheritance, the risk of an affected child is one out of four in each pregnancy, so the presence of multiple cases in the same generation (as in your family) may indicate other modes of inheritance, and in some of these there is a risk for future generations.
New genetic technologies now enable the search for genetic mutations at an unprecedented scope. I would suggest that your children go for genetic counseling and inquire about the possibility of a comprehensive genetic analysis for the entire family.
I am a 70-year-old woman and have been suffering for a long time from pain in my left knee, especially at night; over the last two months, it has spread to my hip and up my leg. I had a back operation – a laminectomy – 30 years ago, and have been lucky since not to suffer from backache.
However, now the pain in my leg wakes me up, and I never sleep properly. During the past week, I have slept with a heating pad under my leg, and it does help somewhat. I also took some ibuprofen but my blood pressure went up, so now I avoid taking it and instead take paracetamol when really necessary. I have stopped my daily walk, as I am not comfortable walking long distances.
I went to an orthopedist last week through my health fund, but he had no answers and suggested physiotherapy; he could not tell if the pain originated from my back. What else can I do? N.S., Jerusalem
Prof. Meir Leibergall, head of orthopedic surgery at Hadassah University Medical Center in Jerusalem’s Ein Kerem, comments: One can’t give a diagnosis without examining the patient, but it seems the source of the problem is the back, with radiating pain to the leg or hip. I think the problem is orthopedic and not rheumatological; go to an expert orthopedist, though a rheumatologist might also be able to help.
Rx for Readers welcomes queries from readers about medical problems. Experts will answer those we find most interesting. Write Rx for Readers, The Jerusalem Post, POB 81, Jerusalem 91000, fax your question to Judy Siegel-Itzkovich at (02) 538-9527, or e-mail it to [email protected], giving your initials, age and place of residence.