Hemochromatosis is one of the most common heritable genetic conditions in people of northern European extraction with a prevalence of 1 in 200. The disease has a variable penetration and about 1 in 10 people of this demographic carry a mutation in one of the genes regulating iron metabolism, the most common allele being the C282Y allele in the HFE gene. Despite the increased awareness of Hemochromatosis, the disease is commonly under diagnosed. Symptoms of hemochromatosis can be non-specific and are related to iron deposition within various body organs. Clinical findings seen in fully established disease include liver cirrhosis, cardiomyopathy, hypogonadism, diabetes mellitus and skin pigmentation (bronze diabetes). In early stages, the disease is either asymptomatic or could present with weakness, fatigue and joint pains. Other rare manifestations include night sweats, movement disorders, including chorea and parkinsonism, as well as non-specific GI symptoms.

We present a case of a 35-year-old gentleman who was following in the outpatient clinic with the complaints of fatigue, dry eyes, dry mouth and throat for the past several years. He also reported hand tremors, occasional low back, knee and ankle pain without stiffness, since childhood. He had a medical history of Raynaud syndrome treated with Nifedipine. Physical examination was consistent with dry mucus membranes and dry mouth. Patient workup revealed positive ANA, borderline low level of C3 and C4, normal ESR, CRP, TSH and negative serologies for Sjogren's A and B antibodies. Patient's excessive dryness was clinically diagnosed as Sicca syndrome and was treated with artificial tears and hydroxychloroquine which helped with the dryness, however the fatigue persisted.

Few years later, he developed worsening of his hand tremors and developed transient unsteadiness with no focal weakness or sensory symptoms. He also developed right upper quadrant pain with tenderness. U/s abdomen and Ct scan were unremarkable. Further work up revealed slight elevation of liver enzymes with normal bilirubin. He had no history of alcohol use and hepatitis serologies were negative. Iron studies were ordered, which showed marked elevation of ferritin and iron saturation was found to be 61%. Genetic analysis showed that he was a carrier of a hemochromatosis-associated alleles C282Y/H63D. A diagnosis of hemochromatosis was confirmed by liver biopsy which showed heavy iron deposition. Patient received treatment with maintenance phlebotomies and has remained well without evidence of disease progression.

Our patient had a long standing constellation of nonspecific symptoms including hand tremors, arthralgia, sicca like symptoms, which were misdiagnosed as Sicca syndrome. On review of the literature, only a handful of cases have been reported describing the initial presentation of idiopathic hemochromatosis as Sicca syndrome. Our case emphasizes the importance of early recognition of rare presenting features of this disease. It also underlines whether there is an association between these two distinct diseases, which needs to be further explored.

Disclosures

No relevant conflicts of interest to declare.

Author notes

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Asterisk with author names denotes non-ASH members.

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