hrvatski

Poteškoće u ranom prepoznavanju i praćenju monoklonske gamapatije neodređenog značenja (MGUS) u ordinaciji obiteljske medicine

Background and Aim: Monoclonal gammopathy of undetermined significance (MGUS) presents a rare premalignant clonal plasma cell disorder, associated with a rate of progression to multiple myeloma. Etiology and prevalence of MGUS has not been accurately determined. Iti s characterized by the presence of a monoclonal (M) protein, less than 10% of clonal plasma cells in the bone marrow, but without damage to the target organs and classic symptoms according to the "CRAB" criteria. The current practice guidelines do not recommend routine screening for MGUS in the general population because of the lack of proven benefit and absence of curative or preventive therapy. The aim of this case presentation is to pay attention to a rare haematological disorder, in order to increase awareness and pay attention in those with positive family history or abnormal laboratory findings, as well as regular outpatient monitoring, with the aim of preventing disease progression. Case presentation: A male, 60-year-old patient, married, high educated, living with his wife, with no smoking or alcohol consuming in anamnesis, with a history of Diabetes mellitus type two for one year ago. Due to the intolerance of Metformin, an Sodium-glucose co-transporter 2 inhibitors (SGLT) was used at a dose of 10 mg under way, with good glycemic control and without other chronic diseases. He was adiposed ( BMI 31), in a good general condition, with out any health major problem. He was presented to family medicine doctor with the results of systematic examination, which were in normal laboratory range, except for the findings of ultrasound of the neck. Due to hyperechogenous formation finding in the area of the right thyroid lobe, further diagnostics were performed with the aim of additional evaluation of the ultrasound findings. Ambulatory, physical examination of the the thyroid gland was performed, and was not palpated enlarged. Also, lymph nodes of the neck, armpits and groin were not enlarged. Family history was negative for haematological diseases and malignancies. Further laboratory diagnostics were performed, with normal range of thyroid hormones, elevated PTH, elevated serum vitamin D, normal serum values of calcium and phosphorus, with an increase of IgG (M - component) in serum protein electrophoresis. Complex thinking was performed, and haematologist was consulted. A craniogram and a lumbosacral spine X-effect were normal, an immunofixation electrophoresis of serum protein confirmed the monoclonal type of IgG type of caps, with an elevated value of free light chains. CT scan of neck, toracic region, abdomen and pelvis was performed and were in normal range. In order to exclude smoldering multiple myeloma, bone biopsy was performed. Further processing confirmed isolated monoclonal type of IgG type of caps, with an elevated value of free light chains with no other pathological substrate and the patient continues to be monitored by a family doctor with regular check-ups of the haematologist. Discussion: MGUS presents a challenge to family doctor in outpatient work, due to atypical clinical presentation, rare prevalence, and it is classified as a ‘hard to suspect’ premalignat lesion. There is important role of family medicine doctor in educating patients to report any new worrisome symptom (bone pain, fatigue, neuropathy, weight loss, night sweats ) with previous detected MGUS, cause these could be a significant as predictor of disease progression and appropiate staging All these steps, may minimaze major complications and initate proper timely treatment. Conclusion: There is needs to provide more education from rare haematological diseases in primary health care, and requires a multidisciplinary approach. Patients with more comorbidities may present severe difficulities in early detection due to overlapping of symtomps. Follow-up is needed to identify those patients at risk of progression.

Monoklonska gamapatija, M- protein, Komorbiditet, Smjernice

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