P-33 A rare form of diabetes: MELAS

Abstract

Abstract Introduction MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) is a fatal multisystemic condition caused by a mitochondrial DNA mutation, the most prevalent is m.3243AAG. Diagnosis is common at a young age,and individuals with late diagnosis due to comorbidities have a shorter life expectancy. It causes dementia, epilepsy, myopathy, hearing loss, diabetes, and growth retardation. We present a patient with MELAS who was diagnosed late since it is a rare manifestation of diabetes with a different treatment than regular diabetes. Clinical Case A fifty-year-old female patient requested regulation of her blood sugar. She had type 2 diabetes for 20 years and hypertension, hyperlipidemia; she had a coronary bypass surgery three years ago and had been using a hearing implant for one year. She is under insulin treatment since 2018. Her 13-year-old daughter was just diagnosed with MELAS due to growth and development delays, and the m.3243AG mutation was discovered. She also screened for MELAS and found heteroplasmic m.3243A<G mutation. Her height was 143 cm, weight was 38 kg and BMI was 18.5 kg/m2. The patient was oriented and cooperative, but reluctant to answer questions. Her speech was slow, she was partial numbness, and she was not open to communication due to hearing loss, questions were always answered by her daughter. She exhibited a poor memory and calculation functions. She had muscle weakness in both extremities with a proximal muscles strength level of 3 and also described exercise intolerance. The patient did not have any seizures. She described a loss of hearing in the left ear and very poor hearing in the right ear. She had attacks of a migraine-like headache in left side of head and palpitation. Her medications included insulin glargine 1×22 units, insulin glulisine 3×8 units, coenzyme Q10 2×100 mg, arginine 3×2.5 grams, ranolazine 375 mg, perindopril 5 mg, sprinolactone 25 mg, metoprolol 50 mg, and rosuvastatin 20 mg. While Hba1c was 10.4 µg/dl, there were postprandial hyperglycemias with the highest 372 mg/dl and fasting hypoglycemias with the lowest 55 mg/dl in blood sugar follow-ups. The patient's treatment was arranged as 2×15 units of insulin degludec aspart and 1×8 units of insulin glulisine before lunch. Linagliptin was preferred instead of the weight-loss GLP-1 agonist to reduce mitochondrial stress in the patient with low BMI. Diabetic oral nutrition therapy was recommended to the malnourished patient. For cardiac evaluation, echocardiography and rhythm holter were requested. The patient was referred to the dementia outpatient clinic for memory and poor higher neurological function. Our patient had late diagnosis of MELAS with multiple complications including sensorineural deafness, a short stature and neurologic manifestations. Considering MELAS in diabetic patients with hearing loss, neurodegenerative findings, low body mass index and intolerant of metformin will significantly reduce the morbidity of the disease by enabling early diagnosis and treatment.