Metabolicdiseases

Case 1. Diabetes mellitus – acute complications. A 56 year old, obese (BMI – 33 kg/m2), dyslipidemic woman with a 8-year history of diabetes presented to the hospital emergency department with a 5-day history of vomiting, fever, pain and pressure in the face along with greenish discharge from her nose. Leaning forward or moving her head increased facial pain and pressure. Patient report and chart review confirmed that 3 years before this presentation, her diabetes had been managed by diet alone. In the past year, glipizide GITS (20 mg/day) and 1 injection of isophanic insulin (14 units given in the evening) were added because of poor glycemic control. On examination, her temperature was 37.4oC, blood pressure was 98/64 mmHg, pulse was 136 and respiration was 36/min. There was a strong smell of ketones in the exam room. The patient was drowsy but cogent. Her lung sounds were clear without wheezing or rhonchi. Her heart sounds were normal. The abdominal exam revealed mild epigastric tenderness to deep palpation but no rebound tenderness or guarding. Extremities were well perfused with a symmetric pulse. Laboratory results were remarkable for a room air arterial blood gas with pH of 7.12, pCO2 of 17 mmHg and bicarbonate of 5.6 mEq/l. Urinalysis revealed 4+ glucose and 3+ ketones. Chemistry panel revealed glucose of 24 mmol/l, BUN of 18mmol/l, creatinine of 112 umol/l, sodium of 139 mEq/l, chloride of 112 mEq/l, CO2 of 11.2 mmol/l and potassium of 5.0 mEq/l. Chest X-ray revealed no infiltrate. 1. What kind of acute diabetic complication does this patient have? 2. What is the etiology of this complication? 3. What is the rationale for inpatient treatment? What are the expectations for future out patient treatment? Should any changes be implemented? Case 2. Diabetes mellitus - classification . 18 year old man with a two week history of fatigue, polydypsia, poliuria and weight lost presented to Outpatient Clinic. Patient gives history of polydypsia 6-7 l in last two days. Weight lost was 8 kg in last two weeks. No other changes were reported. On examination, height 182 cm, weight 72 kg, temperature 37.0oC, blood pressure was 115/70 mmHg, pulse was 85 and respiration was 14. There was a strong smell of ketones in the exam room. The patient was drowsy but cogent. Patient lung sounds were clear. His heart sounds were normal. An abdominal exam revealed mild epigastric tenderness to deep palpation but no rebound tenderness or guarding. No history of other disease. No significant history of family disease. Clinical examinations which have to be performed in Outpatient Clinic? Time of diagnosis and treatment? Manner of transportation? Where should this patient be treated? Clinical examination which has to be performed in hospital? Method of treatment? Clinical examinations which have to be performed during hospitalization? Case 3. Familial hypercholesterolemia A 49 year old man was referred to the Lipid Clinic of the CM UJJ for dyslipidemia management. His baseline levels of total and LDL-cholesterol were 9.6 and 8.4 mmol/l. At the age of 46, the patient experienced an acute myocardial infarction. His family history included premature CAD: his father and his brother had elevated plasma levels of LDL-C and died of MI before 50 years of age (brother at 34). On examination, his weight was 78 kg, height 168 cm, body mass index 27.6 kg/m2 and blood pressure 125/80 mmHg. His plasma total cholesterol level was 8.36 mmol/l, LDL-cholesterol 6.05 mmol.l, HDL 1.63 mmol/l and triglycerides 1.81 mmol/l on lovastatin 20 mg daily. He had bilateral corneal arcus, xanthelasmas and bilateral xanthomas of Achilles tendons and the extensor tendons of his hands. Angiography showed widespread CAD that required the placement of 2 stents. Daily oral drug therapy for secondary prevention included: Atorvastatin, ramipril, bisoprolol, asa. After 8 and 16 weeks, his serum TC and LDLC concentrations were On Atorvastatin 20 mg daily and 40 mg daily TC 5.62, 4.72, mmol/l Tg 1.56, 1.40 mmol/l LDLC 2.95 mmol/l ALAT 76 U/L ( n < 40U/L) Questions: 1. Please write a differential diagnosis for the chief problem. 2. Write a plan for a diagnostic test for this patient. 3. Write a problem list for this patient. Case 4. Osteoporosis Women: age 56, height: 165 cm, weight 61 kg. Because of back pain, an X-ray of the spine was performed which revealed osteofites at the wedge of the vertebrae and signs of osteoporosis-attenuation of the end plates of the vertebrae. There was no evidence of vertebrae fracture. She was referred to our unit for diagnosis of the osteopenia. Questions to the patient: first menses: 13 years of age last menses: 52 years of age in the past history: no fractures any other diseases: stabile angina, hypertension, no kidney or gastrointestinal tract disorders Physical examination: impaired sensation of pain. Any other complaints: weakness. Laboratory test: densitometry: lumbar spine: L1: (-3.45), L2: (-4.05), L3: (-3.77), L4: (-4.11) SD T-score Young Adult femoral: neck (-3.46) SD T-score Young Adult • serum: calcium: 2.17 mmol/l, phosphorus: 0.8 mmol/l, potassium: 3.89 • calcium excretion in urine in 24-hour sample: 2.7 mmol/24 h (normal • morphology: RBC: 3 850 000, WBC: 5 400, Hgb: 11.2 g/dl, Hct: 30% PLT: • liver enzymes and kidney parameters: within normal limits The performed test revealed signs of malabsorption. To confirm or exclude celiac disease, we took a blood sample for antibodies against γglutamylpeptydase as a screening test: the result: positive ++. To establish the diagnosis, we performed an endoscopy of the gastrointestinal tract with a specimen taken from the mucose of the dudenum. The histopathology result: lack of mucosae villi. Based on this, we can diagnose celiac disease. Conclusion: secondary osteoporosis due to celiac disease and partially due to menopause. Treatment: • diet with exclusion of all products containing gluten • calcitriol (total active form of vitamin D3) 2 x 0.25 µg daily • bisfosfonate slow releasing form once weekly (osteoporosis is partially due to menopause, and the value of bone density is relatively low) 1. Please write a differential diagnosis for the main problem 2. Please write a plan of treatment for this patient CASE 5. Diabete mellitus and chronic complications 40 year old male HISTORY Diabetes mellitus type 1 for 24 years, treated with insulin since onset. Nowadays he takes Humalog 12, 10, 8 before meals and 1 injection of Humulin N as basal insulin before sleeping. In the last 5 years, he has noticed a worsening of glucose control with high excursions of glycaemia, frequent hypoglycemia and dawn phenomenon. Actual serum glucose profile taken from self-control diary is: 284, 254, 125, 30, 180, 54, 120, 180, 126 mg/dl. The patient cannot detect approaching hypoglycemia; frequently the first symptom of hypoglycaemia is loss of consciousness. For 10 years, the patient has been complaining of numbness and burning of the skin of the feet. The intensity of these complaints is mild: 2 points in a 20-degree visual scale during daytime and 4 during nighttime (0 = no symptoms, 20 = the strongest possible pain). Patient reports a feeling of tiredness during average physical effort, vertigo after rapid change of body position from supine to standing. These complaints have worsened for 2 years. After a meal, he feels fullness in the abdomen, and after large meals, nausea and vomiting occurs. Periodically, every month, a few day episode of diarrhea arises with consecutive constipation that last for many days. Patient complains of disturbances in urination that has lasted for one year; for 8 years he suffers from erectile dysfunction. Other diseases: hypothyroidism for 15 years, treated with levothyroxine 125 once daily . PHYSICAL EXAMINATION height: 174 cm, weight 64 kg, BMI = 21.1 kg/m2. Ophthalmologic examination: proliferative retinopathy, scars after previous laser therapy. On the feet there is dry, peeling skin with hyperkeratosis and breaks of epithelium in the region of the heel. Moreover, the distortion called hammer-like toes was observed. The temperature, color and warmth of the skin was normal. The pulse wave was detectable over both arteries of both feet. The ankle-blachial index (ABI) at the left was 0.95 and 1.10 at the right side. Examination with Semmes-Weinstein monofilament showed a lack of light touch sensation in the plantar and dorsal region of both feet. This kind of sensation was preserved proximally to the ankles. Similar distribution of pain sensation abnormalities was also observed. The patient could not detect vibration sensation over big toes on both sides using either tuning-fork 128 Hz or neurothesiometer at the maximal possible amplitude (0/8 and 50 V respectively). During examination of medial ankle, patient could not detect vibration threshold using tuning-fork. Examination with neurothesiometer in this location showed a significantly elevated vibration perception threshold: 48 V on the right and 44 V on the left. Temperature perception was also impaired. We couldn’t evoke knee and ankle deep tendon reflexes. LAB TESTS HbA1c level - 6.5 %. TSH = 1.23 U/ml. Cholesterol - 4.23 mmol/l; HDL-cholesterol - 1.43 mmol/l; LDL-cholesterol - 2.15 mmol/l; triglycerydes - 1.42 mmol/l. Urine tests – negative for presence of glucose, ketones, no cells. Protein concentration in urine: 0.15 %, 24 hour collection: proteinuria: 2.28 g, albuminuria: 1.31 g. ECG: sinus tachycardia 105/min, no change in heart rate during deep breaths. Moreover, the ECG is in the range of norm. Chest X-ray was normal. X-ray of digestive system revealed delayed gastric emptying and a large amount of contrast remained in the stomach 3 hours after swallowing. USG of urinary bladder revealed a remaining 200 ml of urine after urination. No more pathology during this examination. DIAGNOSIS The symptoms and signs are typical for advanced autonomic and peripheral neuropathy. QUESTIONS 1. Is the glucose control acceptable? What changes in treatment of diabetes can you propose to improve this situation? What drugs can you use to treat symptoms of autonomic neuropathy? 2. What kind of foot care can you advice for a patient with such a problem? 3. What changes in lifestyle are appropriate for the patient? A 41 year old man was diagnosed with diabetes 15 months ago. His history revealed a blood glucose level of 24 mmol/l at the time of diagnosis with negative ketones. His BMI was 25 kg/m2. He reports that he was on glimepiride (Amaryl) during the first year of diabetes, but then it was discontinued when he was started on metformin. His current diabetes medication is metformin, 500 mg with breakfast, 500 with lunch and 1 000 with dinner. From the time of diagnosis, he lost 6 kg, and his current BMI is 23 kg/m2 without any special calorie-restriction diet. His HbA1c measured 14 months ago was 5.9%, and the last measurement done 2 months ago was 6.5%. His mean fasting blood sugar on home self-glucose monitoring was between 5.4 6.3mmol/l a year ago and between 6.1 and 7.2 during the last month. He takes no other medications, denies smoking and alcohol and drug use and knows of no health problems other than diabetes. Family history for diabetes is negative, but his mother suffered from autoimmune thyroiditis. On examination, his temperature was 36.6oC, blood pressure was 115/75 mmHg, pulse was 64/min. His lung sounds were clear without wheezing or rhonchi. His heart sounds were normal. Other findings on physical examination were unremarkable. Laboratory tests, ECG, chest X-ray showed no major abnormalities. 1. Why is this patient losing weight? 2. Does this patient have type 1 or type 2 diabetes or other type? What tests should 3. Does this patient require a change in the treatment of diabetes? If yes, what for? 4. What method of treatment would you suggest for this patient?

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