LUGANSK STATE MEDICAL UNIVERSITY. DERPARTMENT OF MEDICAL GENETICS.

HEAD OF DEPARTMENT: Germanov V.T. TEACHER: Agovtonnva Elena Alexandria.

Project: Analyses of pedigree tree of a patient with family history of

Crohns disease.

CURATOR: ADENIYI RACHEAL.A. COURSE: 5TH YEAR GROUP NUMBER: 35

LUGANSK 2010.

PASSPORT PART.
Name: Maria Volosiyenko. Age: 25 yrs. Sex: Female. Address: T. Shevchenko street, House 4, Flat 347, Lugansk state, Ukraine. Occupation: Accountant. Place of work: Privat Bank, Lugansk state. Date of hospitalisation: 22nd December 2010.

Goals for Genetic Counselling:

1. To take correct family history and construct a pedigree, to take the data which can identify the genetic origin. 2. To do a complete careful physical examination of the affected individual and of apparently unaffected individuals in the family. 3. To gather information from hospital records about the affected individual. 4. To fill in the card of probands phenotype. To prescribe the scheme of genetic examining and interpret the data of laboratory analysis. 5. To diagnose the genetic disorder. 6. To calculate the genetic risk for proband or for family members.

Anamnesis Morbi.
The patient has had symptoms for years prior to diagnosis. The onset occurred at the age of about 25yrs old. The symptoms were vague initially but she went through periods of flare-ups and remission. She said abdominal pain started initially which was accompanied by diarrhea in a smaller volume of feces of higher frequency. Later on she had intestinal stenosis and abdominal pain was more severe in areas of the bowel with stenosis. As the year goes by she also suffered from intermittent fever, rectal bleeding, loss of appetite, fatigue, malaise, headaches, diffuse arthralgias and significant weight loss.

Anamnesis Vitae.
Since her birth, she has been relatively normal. The patients mother during her pregnancy had no diseases and she was never admitted to the hospital and also her delivery was without complications. Her postnatal events were normal. She was given breastfeeding for 6months which is normal. She had no previous diseases but the complaints of her back pain resulted in back surgery with negative findings and no relief of symptoms. Also exploratory gallbladder surgery was done in response to abdominal pain and the pathologists report of tissue submitted from the gallbladder surgery was negative for any pathology.

Family History.
Marias great-grandfather and grandmother had a history of Crohns disease. Her father and one of her uncle also has a history of Crohns disease while her other uncle is totally healthy and free of symptoms and so is her mother. Due to screening test for the family, it was revealed that her fathers cousin is a carrier of the disease and so is her daughter, but one of her son has the disease too. Marias brother also has the disease. There is no history of infertility, multiple miscarriages, neonatal death or newborns with other malformations. Drug History: In the patients family, theres no history of drug allergies. She smokes a lot like her father and grandmother, and also shes a social drinker. She does not have any history of drug abuse.

The Card of Phenotype.

Weight: 60kg Height: 165cm Structure: normosthenic. Skin: erythema nodusum, red nodules appearing on the back and on shins. Nails: clubbing of the end of the fingers. Muscles: without change. Skull: the head is of normal form, the position of the hair whorls, forehead, back of the head is normal. Ear: normal without deformation. Eye: eye pain when exposed to light (photophobia). Nose: normal without deformation. Lips and mouth: thin lips. Upper and lower jaws: without changes. Tongue: without changes. Palate: without changes. Teeth: without changes. Neck: without changes. Chest: normal form and circumference. Spinal column: ankylosing spondylitis. Abdomen and pelvis: without changes and no hernias but abdominal pain. Upper and lower extremities: without changes except for joint pain. Heart: without changes. Respiratory tract: without changes. Intestinal: intestinal stenosis that leads to obstruction. Urinary tract: without changes. Genitalia: without changes. Endocrine glands: without changes.

Primary diagnosis: Crohns disease of the intestine.

Risk Factors:
1. 2. 3. 4. Smoking. Genetic predisposition. Immune deficiency. Diet like increase intake of animal protein, milk protein, etc.

Treatment.
1. Lifestyle changes: y Smoking cessation. y Dietary adjustments and also identifying foods that trigger symptoms and also balanced diet. y Proper hydration. y Eating small meals frequently may also help with low appetite. y Regular exercise, healthy diet and enough sleep can help fatigue. 2. Medications: y Antibiotics to treat infections. y Aminosalicylate anti-inflammatory drugs(mesalazine, sulfasalazine) and corticosteroids(prednisone, budesonide) to reduce inflammation. y Immunomodulators(azathioprine, mercaptopurine, methotrexate, infliximab, adalimumab, certolizumab, etc). 3. Surgery is often used to manage complications of Crohn's disease, including fistulae, small bowel obstruction, colon cancer, small intestine cancer and fibrostenotic strictures, when strictureplasty (expansion of the stricture) is sometimes performed. Otherwise, and for other complications, resection and anastomosis is the surgery usually performed for Crohn's disease (e.g., ileocolonic resection). Neither type of surgery cures Crohn's disease, as recurrence often reappears in previously unaffected areas of the intestine. Small intestine transplants are experimental as of yet, and are usually only done when there is a risk of short bowel syndrome due to repeated resection surgeries.

Prognosis.
Crohn's disease is a chronic condition for which there is currently no cure. It is characterised by periods of improvement followed by episodes when symptoms flare up. With treatment, most people achieve a healthy height and weight, and the mortality rate for the disease is relatively low. However, Crohn's disease is associated with an increased risk of small bowel and colorectal carcinoma, including bowel cancer.