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Familial hypercholesterolaemia (FH) is an autosomal dominant inherited disorder of lipoprotein metabolism caused by defects in the low-density lipoprotein receptor (LDLR) gene. It is characterized by high low-density lipoprotein (LDL) cholesterol levels, premature cardiovascular disease (CVD), and tendon xanthomas. We present the case of a 26-year-old gentleman who presented with multiple nodular eruptions over the extensor aspects of upper and lower limbs and was diagnosed as FH on the basis of positive family history, typical lipid profile abnormalities, and biopsy of the nodule consistent with tendon xanthomas. The diagnosis and management of this case is deftly feasible at the primary care level., Competing Interests: There are no conflicts of interest., (Copyright: © 2020 Journal of Family Medicine and Primary Care.)

We present the case of a 45-year-old lady with long standing hypothyroidism who was euthyroid on replacement for many years, but stopped responding even to supraphysiological doses of LT4 since the last five years. She complained of abdominal discomfort, bloating, and nausea. She did not have diarrhea or weight loss. Levothyroxine absorption test was done which was suggestive of malabsorption and she was started on triple therapy for H. pylori eradication after confirmation of diagnosis. After 10 days of treatment initiation, she developed symptoms of thyrotoxicosis with her supraphysiological dose of LT4, which was then tapered to a lower dose. Euthyroid state was ultimately achieved with lower doses of LT4 replacement., Competing Interests: There are no conflicts of interest., (Copyright: © 2020 Journal of Family Medicine and Primary Care.)

A diabetic foot ulcer is the leading cause of nontraumatic amputation worldwide. The most important predisposing factor for diabetic foot ulcer is peripheral neuropathy. Rat bites are an uncommon but important cause of ulcer in patients with diabetes, especially in lower socioeconomic strata. A 56-year-old male from southern India, a known patient with type 2 diabetes for the past 15 years with severe peripheral neuropathy, presented to our center with multiple bite marks on bilateral feet and destroyed nails. He was initially managed with local measures and injection tetanus toxoid; however, he rapidly worsened over the next 5 days to develop bilateral cellulitis of the feet and right great toe osteomyelitis. His biochemistry showed uncontrolled diabetes (HbA1c: 9.9) and radiology confirmed right great toe osteomyelitis. He underwent transmetatarsal amputation of the right first toe along with intravenous antibiotics followed by oral antibiotics (amoxicillin with clavulanic acid) for a total duration of 6 weeks and optimization of glycemic control. He improved completely over the next 1 month. Rat bites are a rare but readily preventable cause of foot ulcer in diabetic patients. Primary care and family physician play a vital role in educating patients about preventive aspects such as avoidance of using vegetable oil as a moisturizer that may attract rodents and insects., Competing Interests: There are no conflicts of interest., (Copyright: © 2019 Journal of Family Medicine and Primary Care.)

Tumour induced osteomalacia (TIO) is a paraneoplastic syndrome characterized by renal phosphate wasting and hypophosphatemic osteomalacia, caused by FGF-23 (Fibroblast growth factor-23) producing mesenchymal tumours. Here, we report the case of a 40 year old lady referred by her family physician for multiple joint pains of 2 years duration. There was no evidence of inflammatory arthritis. Biochemical investigations revealed low phosphorus, with raised alkaline phosphatase and high levels of FGF-23. As a TIO was considered likely, functional imaging with a DOTATATE PET scan was done, which revealed a DOTA avid lesion in the right foot. Following surgical excision of the tumour, there was significant relief in symptoms and gradual recovery of phosphate to normal levels. It is relevant and important for family physicians as in subjects with symptom like polyarthralgia, a simple measurement of analytes like phosphate, calcium and alkaline phosphatase in primary care setting will help to arrive at a cause and referral for further evaluation as this condition is potentially treatable., Competing Interests: There are no conflicts of interest.

Exogenous steroid use is the most common cause of Cushing syndrome. With the use of glucocorticoids(GC) for a variety of diseases, the indiscriminate use of this group of drugs has increased. We present a family from which both children were brought with features suggestive of Cushing syndrome. On evaluation, they were found to have suppressed hypothalamic pituitary adrenal (HPA) axis, signifying steroid use from exogenous sources. On further evaluation by a psychiatrist, the mother who was on treatment for chronic depression confessed that she had bought dexamethasone tablets over the counter, and administered the same, mixed with fruit juices to her sons. The family was counselled regarding the consequences of chronic steroid abuse and the children were started on replacement doses of prednisolone. Certain features like posterior subcapsular cataract, glaucoma, avascular necrosis of femur and psychosis are specific to exogenous Cushing syndrome. Despite efforts to understand the effects of long-term steroid treatment on the HPA axis, it is not yet clear as to which patients will have prolonged HPA axis suppression. The time taken for the recovery of HPA axis remains variable. Also, HPA axis suppression due to exogenous steroids may present as acute adrenal crisis. Hence, it is important to start these patients on replacement dose of steroids and also educate them regarding the increased requirement of steroids during stress., Competing Interests: There are no conflicts of interest.

Lingual thyroid is an abnormal mass of ectopic thyroid tissue seen in the base of tongue caused due to aberrant embryological development. It is often asymptomatic but may cause local symptoms, such as dysphagia, dysphonia, and upper airway obstruction. In this case, we report a 13-year-old girl who presented with dysphagia and breathing difficulty. Local examination revealed thyroid tissue in the posterior aspect of the tongue. Thyroid scintigraphy showed abnormal tracer uptake at base of tongue. Hormonal test showed subclinical hypothyroidism. She was treated with Levothyroxine., Competing Interests: There are no conflicts of interest.

Osteoporosis in the younger age group is an important cause of morbidity. Prolactinoma is an uncommon but reversible cause of osteoporosis. The main mechanisms of osteoporosis in prolactinoma are reduced osteoblast activity and hypogonadism. A high index of suspicion is the key in diagnosis and management of this treatable entity., Competing Interests: There are no conflicts of interest.